DIFFERENTIAL DIAGNOSIS OF COMMON ABNORMAL PHYSICAL SIGNS

Most developmental defects and chromosomal disorders are seen during childhood. A large member of childhood diseases can be diagnosed by identification of typical facies. By virtue of constant efforts and practice, the pediatrician should sharpen his observational faculties to identify subtle abnormalities of head and face. Front and profile views of face should be examined to identify facial dysmorphism. Look for size and alignment of eyes, distance between two eyes, shape of nasal tip and bridge, size of philtrum, size and and position of ears, size of chin and forehead etc. Data is available to make an objective assessment of dysmorphism in different ethnic groups and populations.

1. interpupillary distance
2. inner canthal distance
3. outer canthal distance
4. interalar distance.
5. philtrum length
6. upper lip thickness
7. lower lip thickness
8. intercommissural distance

 

1. skull height
2. upper face height
3. midface height
4. lower face height SHP, superior head point G, glabella N, nasion NT, nose tip SN, subnasion C, cheilion M, menton

The Dysmorphic Child

The child with developmental defects or congenital structural anomaly is called a dysmorphic child. Dysmorphism is manifest during childhood and every pediatrician should be conversant with the clinical approach to such a child.

The congenital structural anomalies may be classified as follows:

1. Structural or normal variants.

These are normal developmental or anatomical variations without any therapeutic implications. The examples include simian crease, clinodactyly (medial or lateral deviation of finger), camptodactyly (claw-like fingers), abnormal dermatoglyphics, wide anterior fontanel, wide forehead, sacral dimple, beaked or bulbous nose ctc. These variants may or may not be of any clinical relevance.

2. Minor anomalies.

They are true anomalies and are primarily of cosmetic concern. Isolated minor anomaly may be present in over 10 per cent of normal newborn babies. Examples include preauricular skin tags, supernumerary nipple, various nevi and pigmentary disorders etc. Children with three or more minor anomalies are likely to have a dysmorphic syndrome.

3. Major anomalies.

The major developmental defect produces functional disability and may compromise normal life expectancy. Around 2 to 3 per cent of newborn babies may have major anomalies. The anomaly may be detectable at birth or manifest any time during childhood.

4. Isolated versus multiple anomalies.

The majority of birth defects (almost two-third) are isolated involving a single organ or system. The common examples are cleft lip, cleft palate, congenital heart disease etc. The cause of isolated major anomalies is usually multifactorial or polygenic. Less commonly, congenital anomalies may affect several organs or body systems producing multiple congenital defects. The common patterns of multiple structural anomalies include associations, sequences, field defects and syndromes.

Association ” refers to non-random combination of anomalies wherein the individual components occur together more frequently than would be expected by chance. The clinical picture may vary from case to case but is consistent enough for recognition as a syndrome. For example VACTERL association comprises of vertebral anomalies, anal atresia, cardiac defects, tracheo-esophageal atresia, renal and radial anomalies and limb defects. The recognition of two or three cardinal features should prompt a search for other occult anomalies. The recurrence risk of association anomalies is low and this information is useful for genetic counselling. CHARGE association is characterised by coloboma of eye, heart anomalies (tetralogy of Fallot, PDA, VSD, ASD), atresia of choanae, retardation (mental & physical), genital hypoplasia (cryptorchidism and micropenis), ear anomalies and deafness. VATER association is characterised by vertebral (hemivertebrae or sacral deformity) or vascular anomalies, anal malformations, tracheo-esophageal fistula, radial or renal defects.

The “sequence anomalies” is a pattern of multiple congenital malformations that cannot be explained on developmental and embryologic groups and occur as a result of a cascade of seemingly unrelated consequences. The typical example of sequence anomaly is “Potter oligohydramnios” due to renal agenesis. Oligohydramnios due to renal agensis leads to intrauterine compression of fetus with limb deformities, flattened or compressed facial appearance and pulmonary hypoplasia which is usually the cause of death.

The “field defects” refer to anomalies of different body organs which differentiate together during embryogenesis due to anatomical proximity. Some adverse uterine factors may interfere with the normal development of the structures differentiating during the critical phase of development. They are often caused by an adverse vascular event and the recurrence risk is low. The examples include Poland anomaly and Moebius syndrome.

The “syndrome ” is defined as a unique constellation of multiple anomalies that repeatedly occur in a consistent pattern. The presence of multiple dysmorphic features in a child is suggestive of a chromosomal defect. In patients with multiple malformations, there are no confirmatory laboratory tests and diagnosis is based on identification of a typical pattern of anomalies. Based on the major anomalies present, these dysmorphic syndromes can be clinically divided into ten broad groups. The major diagnostic features of common dysmorphic syndromes are listed in this Table.  At times, the constellation of anomalies in a patient may not conform to any recognised syndrome. A number of computerised dysmorphology databases are available to assist the clinician to make a reliable diagnosis of a child with multiple malformations. The popular computerised databases or software include LDDB (London dysmorphology database), LNDB (London neurogenetic database), POSSUM and SYNDROC etc. These databases can be screened on a personal computer. If a data base search does not suggest a definitive diagnosis, the combination of anomalies may be a new, hitherto, unreported syndrome. It is recommended to perform a prometaphase chromosomal analysis to rule out a rare chromosomal anomaly (usually interstitial deletions or translations) as a cause of syndrome.

 
List of common dysmorphic syndromes with their cardinal clinical features
 Chromosomal syndromes

• Down syndrome (Trisomy-21)
Brachycephaly, flat facies, hypertelorism with mongoloid slant (upwards and outwards) of eyes with epicanthal folds, open mouth with protruding tongue, low set small ears, Brushfield spots in iris, simian crease, small incurved little finger, clinodactyly, hypotonia, mental subnormality etc.

• Edward syndrome (Trisomy-18)
Microcephaly with prominent occiput, low-set malformed ears, microphthalmia, clenched hands with index finger overlapping third finger and fifth finger overlapping fourth finger, short dorsiflexed first toe, short sternum, rocker bottom feet, congenital heart dcfccts (VSD, PDA, ASD), severe neuromotor retardation.

• Patau syndrome (Trisomy-13)
Microcephaly with localised scalp defects, cleft lip/palate or both, broad flat nose, hypotelorism, low-set ears, microphthalmia, coloboma of iris, postaxial polydaclyly of hands and feet, congenital heart dcfects (VSD, ASD, PDA), neuromotor retardation.

• Cri-du-chat syndrome (5 p-)
Cat-like cry in infancy, microcephaly, hypertelorism, epicanthal folds, failure to thrive, antimongoloid slant of eyes.

• Turner syndrome (Monosomy X)
Short webbed neck, low posterior hairline, lymphedema of dorsa of hands and feet, cubitus valgus, shield like chest with widely spaced nipples, short stature, primary amenorrhea.

 Syndromes with extremely short stature

• Cornelia de Lange syndrome
Microbracliycephaly, hirsutism, long curly eyelashes, thin downtumcd upper lip, long philtrum, bushy eyebrows with synophrys (eyebrows merge in the midline), micromelia, mental retardation.

• Rubinstein- Taybi syndrome
Microcephaly, hypoplastic maxilla with narrow palate, low set ears, anti mongoloid slant of palpebral fissures, beaked nose with nasal septum extending below the level of nares, hypertrichosis, broad thumbs and toes, mental retardation, tendency to form keloids.

• Russel- Silver syndrome
Triangular facies with down turning of corners of mouth, skeletal asymmetry (facial or limb), clinodactyly, cafe-au-lait spots.

• Seckel syndrome (Bird-headed dwarf syndrome)
Microcephaly, facial hypoplasia with prominent nose, prominent eyes, low-set malformed ears, mental retardation.

• Hallermann-Streiff syndrome
Brachycephaly with frontal and parietal bossing, bird-like facies, hypotrichosis of scalp, eyelashes, bilateral microphthalmos with cataracts, small pinched nose, micrognathia with double chin.

• Laron syndrome
Marked dwarfism (resistance or insensitivity to HGH). frontal bossing, saddle nose, “setting sun” sign, obesity, small genitalia, high pitched voice.

 Syndromes with moderate short stature, facial and/or genital defects

• Rothmund-Thomson syndrome
Photosensitivity, alopecia, cataracts, hypogonadism, short stature.

• Smith-Lemli-Opitz syndrome
Ptosis, epicanthal folds, antevcrted nostrils, low-set ears, micrognathia, syndactyly of second or third toes, hypospadias and cryptorchidism in males, failure to thrive, mental retardation.

• Laurence-Moon-Beidle syndrome
Obesity, retinitis pigmentosa (night blindness), mental retardation, hypogenitalism, and polydactyly.

• Williams syndrome
Elfin facies, long philtrum, anteverled nostrils, depressed nasal bridge, thick lips with drooping lower lip, wide smile, hypotelorism, periorbital fullness, strabismus, blue eyes, hoarse voice, supravalvular aortic stenosis, peripheral pulmonary stenosis, friendly “cocktail party-” personality, hypercalcemia during infancy, mental retardation with relative sparing of language, oldish look due to wrinkling of skin and graying of hair.

• Noonan syndrome
Turner-like phenotype, webbed-neck, hypertelorism with antimongoloid slant of eyes, broad forehead, ptosis, low-set posteriority rotated or folded ears, pectum excavatum, carinatum or both, pulmonary valve stenosis or ASD, cryptorchidism.

• Aarskog syndrome
Round face, small broad nose with anteverted nostrils, long philtrum with clinodactyly of 5lh finger, shawl scrotum (scrotal skin fold encircles base of phallus), short stature.

 Syndromes with Physical over growth and associated defects

• Fragile X syndrome
Long face, prominent ears, large chin, hyperextensible distal interphalangeal joints, post pubertal macro-orchidism, mental subnormality, hyperkinetic, autistic or aggressive behaviour.

• Sotos syndrome
Large dolichocephalic head, course-looking facies, slant of palpebral fissures, prominent chin (macrognathia), large hands and feet, mental retardation.

• Beckwith – Wiedemann syndrome
Exomphalos, macroglassia, nevus flammcus over the forehead, prominent eyes, typical creases or cleft in ear lobes, visceromegaly, hypoglycemia, hemihypertrophy.

• Berardinelli lipodystrophy syndrome
Muscular body habitus without subcutaneous fat, large hands and feet, acanthosis nigricans, phlebomegaly, hepatomegaly, large phallus.

• Marshall -Smith syndrome
Large-for-dates, prominent forehead, upturned nose, blue sclerae, microngnathia, advanced physical and skeletal growth, mental retardation.

• Weaver-Smith syndrome
Large baby at birth, macrocephaly, wide forehead, hypertelorism, antimongoloid slant of eyes, elongated philtrum, large ears, small chin, camptodactyly, broad thumbs, hypertonia with contractures.

 Syndromes with unusual CNS or neuromuscular findings and associated  defects

• Arthrogryposis multiplex congenita
Multiple contratures of major joints, bilateral club feet, policeman-tip position of arms and hands, decreased muscle mass.

• Meckel-Griiber syndrome
Occipital encephalocele, microccphaly, cleftlip/palate, abnormal genitalia, poslaxial polydactyly, enlarged palpable kidneys due to multicystic dysplasia.

• Sjogren- Larsson syndrome
Ichthyosis, spastic diplegia, retinal degeneration, mental retardation.

• Ataxia-telangiectasia
Telangiectasia of bulbar conjunctiva, auricles and nasal bridge, progressive cerebellar ataxia, recurrent respiratory infections and sinusitis.

• Prader-Willi syndrome
Obesity, fish-like mouth, hypotonia, micromelia, almond-shaped pelpebral fissures, hypogonadism in males, mental retardation.

• Zellweger syndrome
Long flat facies, high forehead, epicanthic folds, large fontanel, micrognathia, abnormal ears, hepatomegaly, hypotonia, hepatic and renal cysts.

• Myotonic dystrophy syndrome
Myopathic facies with atrophy of temporalis muscle, ptosis, cataracts (usually on slit- lamp examination), hypotonia during infancy and myotonia during childhood, testicular atrophy in pubertal boys.

 Syndromes with facial dysmorphism as a major feature

• Moebius sequence
Ptosis, bilateral 6th nerve palsy, bilateral facial nerve palsy with mask like facies, micrognathia.

• Pierre-Robin sequence
Micrognathia and retrognathia, glossoptosis, U-shaped cleft of soft palate.

• Frontonasal dysplasia sequence
Broad-notched nasal tip or bifid nostrils, ocular hypertelorism, telecanthus, midline deficit of frontal bone.

• Waadenburg syndrome
Telecanthus, outer displacement of inferior lacrimal puncti, partial albinism (white forelock of hair), heterochromia of iris, sensorineural deafness.

• Treacher-Collins syndrome
Malar hypoplasia, antimongoloid slant of palpebral fissures, coloboma of lower eyelids, malfomations of external ears, micrognathia.

• Goldenhar syndrome
Facial asymmetry, microtia (small, crumpled or complete absence of ears), preauricular skin tags, dermoid, lateral cleft-like extension of corner of the mouth, cervical vertebral anomaly.

 Syndromes with facial and limb defects

• Langer-Giedion syndrome
Prominent laterally protruding ears, large bulbous pear-shaped nose, sparse scalp hair, multiple bony exostoses, cone-shaped epiphyses of phalanges.

• Whistling face syndrome
“Whistling face”, grooves over chin, contractures of small joints, ulnar deviation of fingers.

• Coffin-Lowry syndrome
Coarse facies, antimongoloid slant of pelpebral fissures, bulbous nose, thick, tapering fingers, drumstick appearance of distal phalanges, severe mental retardation.

• Coffin-Siris syndmme
Coarse facies, sparse scalp hair, hypoplastic or absent fifth finger and toe nails, hypotonia, mental retardation.

• Pyknodysostosis
Bossing of skull, large anterior fontanel, wide sutures, small mandible, parrot-like nose, blue sclerae, short-limbed dwarfism, osteopetrosis, dystrophic nails, widened drum stick appearance of fingers and toes, tendency to fractures.

 Syndromes with limb defects as a major feature

• Poland anomaly
Unilateral hypoplasia or absence of pcctoralis major muscle with ipsilateral brachysyndactyly of hand.

• Escobor syndrome
Ptosis, antimongoloid slant of pelpebral fissures, micrognathia, multiple pterygia of neck, axillae, antecubital, popliteal and intercrural areas, rocker-bottom feet.

• Holt-Oram syndrome
Atrial septal defect with finger-like triphalangeal or absent thumb, complete or partial absence of radius and a number of associated anomalies.

• Thrombocytopenia-radial aplasia syndrome (TAR syndrome)
Thrombocytopenia with absence or hypoplasia of megakaryocytes in early infancy, bilateral absence or hypoplasia of radii but thumbs are usually present.

• Amniotic band disruption sequence
Constriction rings or transverse amputation of digits or limbs, pseudosyndactyly of digits, unusual facial clefts not conforming to the usual anatomical embryonic planes of fusion.

 Craniosynostoses syndromes

• Carpenter syndrome
Brachycephaly, obesity, flat nasal bridge, lateral displacement of inner canthi, preaxial polydactyly of feet, partial syndactyly of hands and feet.

• Apert syndrome
Brachycephaly with high forehead (acrocephaly), midfacial hypoplasia, flat facies; antimongoloid slant of palpebral fissures, proptosis, syndactyly usually with complete fusion of 2nd, 3rd and 4th fingers (mitten hands), broad distal phalanx, thumb and hallux.

• Crouzon syndrome
Maxillary hypoplasia, shallow orbits with ocular proptosis, strabismus, hypertelorism, and parrot-nose.

 Syndromes with multiple hamartomas

• Sturge-Weber syndrome
Portwine hemangioma involving facial area innervated by ophthalmic division of trigeminal nerve, ipsilateral meningeal hemangiomata with calcification, ipsilateral choroid plexus hemangioma.

• Incontinentia pigmenti
Irregular linear streaks and plaques of vesicles and verrucous stage followed by pigmented skin lesions over trunk and extremities, alopecia, abnormal dentition, seizures, spasticity mental retardation. The pigment is distributed in macular whorls, reticulated patches, flecks, Splashes and linear streaks.

• Tuberous sclerosis
Adenoma sebaceum on the face, ash-Jeaf macules, shagreen patch, seizures, retinal phakomas, pit-shaped defects in tooth enamel, phalangeal cysts, renal angiomyolipomata.

• LEOPARD syndrome
The mnemonic stands for lentigenes, electrocardiographic conduction defects, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth and deafness.

• Neurofibromatosis type I
Multiple cafe-au-lait spots (>5 with a size of atleast 5 mm), multiple neurofibromata, Lisch nodules (pigmented hamartomata of iris).

• Klippel-Trenaunay- Weber, syndrome
Asymmetric hypertrophy of limb with phlebectasias and hemangiomata, portwine stains, lympharigiomatous anomalies, syndactyly, polydactyly or macrodactyly, dislocated hips, kypho-scoliosis, visceral hemangiomata.

Failure to Thrive

Most parents are worried about the growth of their children. Failure to thrive (FTT) is a common symptom for which children are brought for evaluation. It should not be confused with food fussiness of children of well-to-do parents when “child is not eating or growing to the satisfaction of his parents.” The definition of FTT is usually limited to children less than 3 years old but can be used for children upto 5 years of age in our country. The diagnosis of FTT cannot be made on the basis of a single observation. It is characterised by failure to gain weight or weight loss observed over a period of time. The diagnosis can be made reliably if weight gain pattern of the child is maintained on a Road-to-Health card. In preterm babies corrected age or post conceptional age should be used for recording anthropometric measurements on Road-to-Health card during 2 years of life. The weight curve of the child with FTT shows a plateau or a downward trend so that it drops below two major percentile lines.

The child with FIT should he differentiated from constitutionally light child and normal child of short stature. The size of the baby at birth depends upon the maternal health and adequacy of intrauterine environment rather than the genetic or constitutional factors. Children with poor genetic growth potential may gradually go through a phase of reduced growth velocity during first 1-2 years of life. After this physiological adjustment the child “finds his genetic growth

 
Normal children with constitutionally short stature
• Low birth weight baby*
• Extremely preterm infant
• Infants of short parents (low mean parental height)
• Adequate nutritional intake
• Normal parem-child and parent-parent interaction without any marital conflict
• Absence of symptoms or signs of systemic illness

curve” and then grows along this percentile at a normal growth velocity (Fig.7.13). Some LBW infants with fetal malnutrition (especially babies with symmetric IUGR) continue to follow the trend of intrauterine growth velocity after birth and grow as constitutionally light children.

The causes of FTT may be psycho-social or organic. The majority of children with FTT in our country have nutritional or organic causcs. The important causes of FTT are given in Table. The common psycho-social correlates of FTT include parental discord, lack of emotional support system, financial problems and substance abuse etc. There is history of irritability, sleep disturbances, excessive crying and temper tantrums. Infant with sensory deprivation is characterised by decreased vocalisation, minimal smiling, abnormal posture, lack of cuddlines, head banging, rocking movements and rumination.

Delayed Closure of Anterior Fontanel

Anterior fontanel at birth varies in size between 2.0 ± 1.0 cm. The anterior fontanel normally closes between 12 to 18 months of age. The presence of

 
Causes of failure to thrive
1. Psychosocial deprivation and child abuse
2. Faulty feeding practicesFailure of breast feeding
Excessive dilution of formula feeds
Delayed and unsatisfactory weaning practices
3. Organic CausesInfections
Intrauterine infections, tuberculosis, malaria, HIV infection, recurrent infectionsGastrointestinal disorders
Recurrent or persistent diarrhea, celiac disease, protein losing enteropathy, giardiasis, gastroesophageal reflux, chronic liver dysfunction.Cardiovascular disorders
Congenital heart disease

Renal
Recurrent urinary tract infections, renal tubular acidosis, chronic renal
failure

Hemato-oncologic conditions
Thalasemia major, sickle cell anemia, childhood malignancies

Neurologic
Cerebral palsy, mental retardation, diencephalic tumor

Endocrinal disorders
Diabetes mellitus. diabetes inspidis, hypothyroidism, hyperthyroidism

Immunologic conditions
Primary immune deficiency disorder, collagen vascular disorder

Miscellaneous conditions
Multiple congenital malformations, chromosomal anomaly, metabolic disorder

excessively large anterior fontanel and its delayed closure is a recognized clinical feature in following conditions:

  • Malnutrition
  • Rickets
  • Hydrocephalus
  • Cretinism
  • Down syndrome (trisomy-21)
  • Gorgoylism (mucopolysaccharidoses)
  • Congenital syphilis
  • Thalassemia major
  • Osteogenesis imperfecta
  • Cleidocranial dysostosis
  • Pituitary dwarf
  • Alpcrt syndrome
  • Achondroplasia
  • Trisomy 13 and 18
  • Russell-Silver syndrome
  • Hypophosphatasia
  • Progeria
  • Hallermann-Streiff syndrome
  • Pyknodysostosis
  • Zellweger syndrome
  • Congenital rubella syndrome

Bulging Anterior Fontanel

The fontanel should be examined in a quiet child held in an upright position. The fontanel is normally flat and pulsatile. Bulging fontanel is a reliable sign of raised intracranial tension during infancy. The pulsations may disappear when fontanel becomes tense due to marked elevation of intracranial tension.

  • Crying infant
  • Raised intracranial tension (meningitis, intracranial bleeding, tumor, pseudotumor cerebri etc.)
  • Hydrocephalus
  • Tetracycline therapy
  • Vitamin A poisoning
  • Corticosteroid therapy (following cessation)
  • Hyperparathyroidism
  • Congenital hypophosphatasia
  • Maple syrup urine disease
  • Urea cycle enzyme defects
  • Galactosemia
  • Vitamin D-dependent rickets
  • Nalidixic acid overdose

Craniotabes

Craniotabes refers to softened and parchment-like skull bones which can be indented like a ping-pong ball. The sign should be elicited away from the suture line. It is normally elicitable in preterm babies. The common causes arc listed below:

  • Physiological
  • Rickets
  • Congential syphilis
  • Hydrocephalus
  • Osteogenesis imperfecta
  • Lacunar skull
  • Hypervitaminosis A
  • Mandibulo-facial dysostosis (Treacher-Collins syndrome)

Bossing of Skull

Prominence of skull bones is called as bossing. It may affect frontal, parietal or occipital bones though frontal bossing is most common. The important causes are listed below:

  • Rickets
  • Thalassemia major
  • Congenital syphilis
  • Achondroplasia
  • Hurler’s syndrome (mucopolysaccharidoses)
  • Cleido-cranial dysostosis
  • Ectodermal dysplasia
  • Ehlers-Danlos syndrome
  • Lowe’s syndrome
  • Hallcrmann-Streiff syndrome
  • Generalized gangliosidosis type I
  • Pyknodysostosis

Macrocephaly

It is diagnosed when head circumference exceeds 2.5 cm of the mean for age or is above two standard deviation of the mean for age, sex, height and weight.

  • Hydrocephalus
    It is characterized by dilatation of ventricular system. The salient clinical features include large bulging anterior fontanel separated sutures, bossing of frontal bones, engorged veins over  the scalp and sun setting sign. Serial head circumference should be taken to identify whether it is  progressive (active) or arrested hydrocephalus.
  • Subdural hematoma
  • Thick skull bones (achondroplasia, osteopetrosis, pyknodysostosis, rickets, leontiasis ossea etc.)
  • Porencephaly
  • Cerebral gigantism
  • Cerebral lipodosis
  • Metachromatic leukodystrophy
  • Hydranccphaly
  • Intracranial tumor

Microcephaly

It is defined as head circumference below two standard deviations of the mean for age, sex, height and weight. it may be primary due to impaired growth of the brain or secondary due to premature fusion of sutures.

  • Familial microcephaly
  • Craniosynostosis (odd-shaped skull, prominence of sutures)
  • Intrauerine infections (CMV, rubella, toxoplasmosis, HIV)
  • Cockayne’s syndrome
  • Smith-Lemli-Opitz syndrome
  • Rett syndrome
  • 18 short-arm deletion (18p-) and long-arm deletion (18 q-) syndromes
  • Cri-du-chat syndrome
  • Trisomy 13 and 21
  • Fetal alcohol, hydantoin or cocaine syndrome
  • Rothmund-Thomson syndrome
  • Wolf-Hirschhom syndrome (p- syndrome)
  • Incontinentia pigmenti

Blue Sclerae

  • Early infancy
  • Osteogenesis imperfecta
  • Glaucoma
  • Russell-Silver syndrome
  • Hallermann-Streiff syndrome
  • Ehlers-Danlos syndrome
  • Marfan syndrome
  • Roberts syndrome
  • Marshall-Smith syndrome
  • Pyknodysostoses

“Setting Sun” sign

The eyes are rolled downwards so that iris is completely covered by the lower eyelids and sclera is uncovered by the upper eyelids. It occurs due to involvement of center of upward gaze which is located in the pretectal area of brain stem. The sign is easily visible when infant is quickly lowered from silting to supine position.

  • Physiological. Transient and episodic “sun-setting” sign is common in preterm and some term infants
  • Hydrocephalus
  • Kemicterus
  • Laron dwarfism

Hypertelorism

Increased interpupillary distance between the two eyes is called as hypertelorism. It occurs due to hypertrophy of the lesser wing of sphenoid.

The important causes are given below:

  • Racial
  • Down syndrome
  • Cretinism
  • Chondrodystrophies
  • Craniofacial dysostosis
  • Thalassemia major
  • Ehlers-Danlos syndrome
  • Turner’s syndrome
  • Waardenburg syndrome
  • Cat cry syndrome
  • Aarskog syndrome
  • Optiz syndrome
  • Noonan syndrome
  • Rubinstein-Taybi syndrome
  • Cerebral gigantism (Sotos syndrome)
  • Nevoid basal cell carcinoma
  • Di George syndrome
  • Larsen syndrome
  • Multiple lentigines syndrome
  • Orofaciodigital dysostosis
  • Apert syndrome
  • Coffin-Lowry syndrome
  • Crouzon disease
  • Fetal hydrantoin syndrome
  • Whistling face syndrome
  • Williams syndrome
  • Carpenter syndrome

Ocular Hypotelorism

Decreased distance between orbits is less common and is seen in following conditions:

  • Cyclops
  • Ethmocephaly
  • Cebocephaly
  • Arrhinencephaly

Exophthalmos

Proptosis of the eyes may be unilateral or bilateral. The sclera is visible above and below the cornea and lid lag is often present. Prominent eyes should not be confused with proptosis wherein the eyes bulge forwards.

  • Thyrotoxicosis
  • Hand-Schuilar Christian disease
  • Crouzon’s disease
  • Anterior meningocele
  • Rhabdomyosarcoma
  • Optic glioma
  • Langerhans cell histiocytosis
  • Chloroma (acute myeloid leukemia)
  • Polyostotic fibrous dysplasia
  • A.V. aneurysm
  • Cavernous sinus thrombosis
  • Retro orbital hemorrhage
  • Orbital cellulitis and abscess
  • Neuroblastoma
  • Neurofibromatosis
  • Cavernous hemangioma or lymphangioma
  • Apert syndrome
  • LEOPARD syndrome
  • Basal skull fracture
  • Pyknodysostosis
  • Sickle cell disease
  • Visceral larva migrans

Ptosis

  • It may be congenital or acquired, unilateral or bilateral drooping of eyelid/s.
  • Congenital unilateral/bilateral ptosis
  • Oculomotor palsy (ptosis with mydriasis)
  • Horner’s syndrome (ptosis, enophthalmos, miosis and lack of sweating)
  • Myasthenia gravis
  • Botulism
  • Myotonic dystrophy
  • Aarskog syndrome
  • Mobius syndrome
  • Noonan syndrome
  • Fetal alcohol syndrome
  • Whistling face syndrome
  • Sticky eyes

Cataract

The opacities in the lens are best seen through the +10 diopter lens of an ophthalmoscope at a distance of 10 cm from patient’s eyes. It may be congenital or acquired, unilateral or bilateral, central or complete.

  • Familial, idiopathic (developmental)
  • Rubella syndrome
  • Galactosemia
  • Marfan’s syndrome
  • Iridocyclitis
  • Post traumatic
  • Lowe’s syndrome
  • Hypoparathyroidism
  • Progeria
  • Alport’s syndrome
  • Intrauterine infections (toxoplasmosis, CMV, herpes simplex)
  • Trisomy 13,18,21
  • Diabetes mellitus
  • Homocystinuria
  • Rothmund-Thomson syndrome Cortisone therapy
  • Osteopetrosis
  • Zellweger syndrome
  • Conradi’s disease
  • Hallermann-Streiff syndrome
  • Incontinentia pigmenti
  • Refsum syndrome
  • Mannosidosis
  • Mandibulo-facial- dysostoses
  • Cockayne syndrome
  • Smith-Lemli-Opitz syndrome
  • Turner syndrome

White Reflex in the Eye (cat’s eye)

When you shine a light through a pupil or look at the pupil through an opthalmoscope, normally a red flare is seen. Absence of red reflex is a recognised feature of following conditions which demand urgent attention. The common
causes of “white pupil” or leukokoria are given below:

  • Cataract
  • Retinoblastoma
  • Pupillary membrane or persistent central hyaloid artery
  • Vitreous opacity
  • Retrolental fibroplasia
  • Eosinophilic granuloma (visceral larva migrans)
  • Retinal detachment

Depressed Nasal Bridge

  • Down syndrome
  • Cretinism
  • Thalassemia major
  • Congenital syphilis
  • Hurler’s syndrome
  • Chondrodystrophies
  • Racial

Upward Slanting of Eyes (up and out or mongoloid slant)

  • Racial
  • Down syndrome
  • Ectodermal dysplasia
  • Prader-Willi syndrome
  • Leri’s pleonosteosis
  • Aarskog syndrome

Downward Slanting of Eyes (down and out or antimongoloid slant)

  • Mandibulo-facial dysostosis
  • Turner’s syndrome
  • Trisomy 17-18
  • Cat cry syndrome
  • Apert’s syndrome
  • Treacher-Collins syndrome
  • Whistling face syndrome
  • Alagille-Watson syndrome
  • Alport syndrome
  • Smith-Lemli-Opitz syndrome
  • Noonan syndrome
  • 10p depletion syndrome

Puffiness of Eyelids/Face

  • Familial
  • Conjunctivitis
  • Excessive crying
  • Hypoproteincmia (nephritis, nephrotic syndrome, anemia, kwashiorkor etc.)
  • Mediastinal obstruction
  • Hypothyroidism (myxedema)
  • Spasmodic cough
  • Chronic sinusitis
  • Cavernous sinus thrombosis
  • Angioneurotic edema
  • Congestive heart failure
  • Constrictive pericarditis
  • Chronic cor pulmonale
  • Dermatomyositis

Abnormalities of Philtrum

The midline depressed area between columella and the upper lip is called philtrum. Philtrum may be abnormally long in following conditions:

  • Hurler’s syndrome
  • Fetal alcohol syndrome
  • Fetal hydantoin syndrome
  • Gangliosidosis
  • Wagler Stickler syndrome
  • Weaver syndrome
  • Femoral hypoplasia
  • Aarskog syndrome
  • Smith-Lemli-Opitz syndrome
  • Williams syndrome

The philtrum may be abnormally short in following conditions:

  • DiGeorge’s syndrome
  • Oro-facio-digital syndrome

Low set Ears

The upper and lower limits of the pinna normally correspond to the level of eyebrows and base of the alae nasi respectively. The horizontal inter-palpebral line, when projected posteriorily, should bisect the ears into upper one-third and lower two-third portions. If the line passes above the ears, it is suggestive of low- set ears.

  • Down syndrome
  • Renal agenesis (Potter facies)
  • Gorgoylism
  • Turner’s syndrome
  • Trisomy 17-18, 13-15
  • Idiopathic hypercalcemia
  • Smith-Lemli-Opitz syndrome
  • Treacher-Collins syndrome
  • Cri-du-chat syndrome
  • Carpenter syndrome
  • Apert syndrome

Micrognathia (Hypoplasia of mandible)

Small chin giving an appearance of “bird facies” is a recognized feature of following conditions:

  • Pierre Robin syndrome
  • Hallermann-Streiff syndrome
  • Treacher-Collins syndrome
  • Pyknodystosis
  • Arteriohepatic dysplasia
  • Di George syndrome
  • Rubinstein-Taybi syndrome
  • Smith-Lemli-Optiz syndrome
  • Trisomy- 13 and 18
  • Warkany syndrome
  • Juvenile rhematoid arthritis
    Cri-du-chat syndrome
  • Fetal alcohol syndrome
  • Russel-Silver syndrome
  • Schwartz-Jampel syndrome
  • Wagner-Stickier syndrome
  • Weaver syndrome

Big Tongue (Macroglossia)

  • Cretinisim
  • Down syndrome (tongue is normal but oral cavity is small)
  • Glycogen storage disease (Pompe disease)
  • Hurler’s syndrome
  • Generalized gangliosidosis
  • Beckwith-Wiedemann syndrome
  • Primary, amyloidosis
  • New growth of tongue (lymphangioma, neurofibromatosis, rhabdomyoma)
  • Duchenne’s muscular dystrophy
  • Sandhoff disease

Gum Hyperplasia

  • Poor oral hygiene
  • Dilantin therapy
  • Scurvy
  • Acute monocytic leukemia
  • Hurler’s syndrome
  • Xanthomatosis
  • Epulis
  • Diffuse fibromatosis
  • Histiocytosis X

Delayed Dentition

Eruption of primary dentition usually occurs around 6 to 8 months of age. The dentition may be delayed upto one year without any systemic disease due to genetic or constitutional factors. Dentition is considered as delayed if there is no eruption of teeth by first birthday.

  • Constitutional delay
  • Protein-energy malnutrition
  • Rickets
  • Hypothyroidism
  • Hypopituitarism

Brownish Discoloration of Teeth (amelogenesis imperfecta)

  • Poor oro-dental hygiene
  • Caries and fluorosis
  • Kernicterus
  • Tetracycline therapy
  • Iron medication
  • Erythrodontia (porphyria erylhropoieiica)
  • X-linked dominant hyposphosphatemic rickets
  • Osteogenesis imperfecta

Costo-chondral Beading

  • Rickets
  • Scurvy
  • Chondrodystrophy

The beading is broad and dome-shaped in rickets while it is sharp like a bayonet due to posterior subluxation of sternum in cases of scurvy.

Clubbing

The exact mechanism of clubbing is unclear. It appears to be due to production of a humoral substance which causes dilatation of blood vessels of the fingertips. The clubbing can appear after about 6 weeks of the appearance of a predisposing factor. There are three clinical stages of clubbing:

(a) Obliteration of the angle of the nail bed.
(b) Increased fluctuations at the nail bed.
(c) Increased curvature and thickening of the nail.
(d) Examine the profile view of the distal phalanges. When clubbing is present, the vertical height at the base of nail will be greater than the height of distal interphalangeal joint.

The important causes of clubbing are as follows:

  • Familial
  • Pulmonary suppuration (brochiectasis, lung abscess, empyema, cystic fibrosis)
  • Fibro-caseous pulmonary tuberculosis (parrot-beak type clubbing)
  • Cyanotic heart disease (drum-stick type clubbing)
  • Cirrhosis of liver
  • Malabsorption syndrome
  • Ulcerative colitis
  • Regional enteritis
  • Subacute bacterial endocarditis

Clubbing in association with pain over the wrists and ankles due to subperiosteal bone formation over distal diaphyses is called as hypertrophic osteoarthropathy. It may occur due to mesothelioma, bronchiectasis and cirrhosis of liver.

Trismus (lockjaw)

There is inability to open the mouth.

  • Tetanus
  • Arthritis of tempero-mandibular joint
  • Encephalitis
  • Brain tumor
  • Strychnine poisoning
  • Phenothiazine toxicity
  • Tumor of the jaw (rhabdomyosarcoma)
  • Primary hypoparathyroidism
  • Nasopharyngeal carcinoma
  • Acute streptococcal polymyalgia
  • Anesthetic-induced malignant hyperthermia
  • Infantile Gaucher’s disease

Short Neck

  • Chondrodystrophy (Morquio’s disease)
  • Down syndrome
  • Cretinism
  • Hurler’s syndrome
  • Pterygium colli
  • Goldenhar syndrome
  • Klippel-Feil deformity
  • Platybasia
  • Webbed neck (Turner’s syndrome)
  • Bilateral Sprengel’s deformity
  • Spondyloepiphyseal dysplasia congenita
  • Noonan syndrome

Neck Stiffness

The chin cannot be touched to the front of chest by flexion of the neck. In a struggling infant, the head should be suspended beyond the edge of examination table to relax the neck. In infants below 3 months, severely malnourished and immuno-compromised children, neck rigidity may not develop despite the presence of meningitis. Opisthotonus is characterized by marked neck stiffness with extensor arching of the whole body.

  • Meningitis
  • Meningismus
  • Tetanus
  • Vertebral anomalies
  • Vertebral trauma
  • Caries cervical spine
  • Retropharyngeal abscess
  • Juvenile chronic arthritis
  • Subarachnoid hemorrhage
  • Arnold-Chiari malformation
  • Leptospirosis
  • Acute poliomyelitis
  • Phenothiazine toxicity
  • Leukemic infiltrates in CNS
  • Hypernatremia
  • Toxic shock syndrome
  • Posterior fossa brain tumor with herniation
  • Lyme disease
  • Calcification of cervical intervertebral discs
  • Infantile Gaucher disease
  • Behcet syndrome

Torticollis (wry neck)

Torticollis is an asymmetric deformity of the neck and head characterized by lateral flexion of the head towards the involved side and rotation of the chin towards the opposite shoulder. In normal infants the head can be turned so that chin can touch each shoulder and the ear can be made to touch the ipsilateral shoulder.

  • Sternocleidomastoid “tumor”
  • Klippel-Feil syndrome
  • Pott’s disease of cervical spine
  • Acute dystonic drug reaction
  • Tonsillar herniation (astrocytoma cerebellum) 
  • Down syndrome
  • Juvenile chronic arthritis
  • Morquio’s syndrome
  • Larsen syndrome
  • Pseu doachondroplasia
  • Paroxysmal torticollis
  • Strabismus
  • Acute cervical adenitis
  • Torsion dystonia
  • Tumor of cervical spine (eosinophilic granuloma, osteid osteoma)
  • Subluxation of the atlantoaxial joint
  • Skeletal dysplasias
  • Occiptalization and basilar impression of skull
  • Congenital anomalies of the odontoid process
  • Sandifer’syndrome

Micropenis

It refers to small penis. There is minimal growth of genitals during childhood followed by sudden spurt of growth during adolescence. The normal stretched length of penis in infants is 3.9 + 0.8 cm. Micropenis is diagnosed when length of penis is less than 2.0 cm. The penis may be buried in the pubic fat in obese children. Micropems is a recognised clinical feature of following disorders:

  • Hypogonadotrophic hypogonadism (Kallmann’s syndrome, Prader- Willi syndrome, Ruds’ syndrome, Alstrom syndrome, Scpto-optic dysplasia).
  • Klinefelter’s syndrome
  • Noonan syndrome
  • Down syndrome
  • Cornelia de Lange syndrome
  • Fanconi’s anemia
  • Carpenters syndrome
  • Robinows syndrome
  • Williams syndrome
  • Hallermann-Streiff syndrome
  • Deletion of long arm of 18 chromosome
  • X-linked hypogammaglobulinemia
  • Hypopituitarism
  • CHARGE association

Abnormalities  of Testicular size

The size of testes is best evaluated with the help of an orchidometcr which has testis-shaped plastic balls of different sizes on a string. During pre adolescence the size of testes are between 1.5 – 2.0 cm. The adult size of testes varies between 3.5-5.0 cm. The right testis is slightly larger in size and hangs lower than the left. Failure of testicular enlargement by the age of 14 years is suggestive of delayed sexual maturation or hypogonadism.
Micro-orchidism is a recognized feature of following conditions:

  • Rudimentary testes syndrome
  • Klinefelter syndrome
  • Laurence-Moon-Biedle syndrome
  • Hypopitiutarism
  • Hypothalamic disorders
  • May be associated with various syndromes having micropenis

Macro-orchidism may occur in following conditions:

  • Fragile-x syndrome
  • Neurogenic or idiopathic sexual’ precocity
  • Hypothyroidism
  • Testicular tumors (teratoma, interstitial cell tumor, rhabdomyosarcoma)

Sexual Infantilism

The evidences of sexual maturation should appear in girls by the age of 15 or 16 years and in boys by 16 to 17 years. The delay in sexual development may occur in following conditions:

1. Constitutional delay
The adolescent growth spurt may be delayed more often in boys than girls.

2. Central causes (Hypogonadotropic hypogonadism)

  • Hypopituitarism
  • Hypothalamic disorders
  • Suprasellar cyst or tumor, trauma, irradiation, encephalitis etc.
  • Kallmann syndrome (Anosmia and color blindness provide useful clucs)
  • Laurence-Moon-Biedle syndrome
  • Prader-Willi syndrome
  • Vaquez syndrome
  • Septo-optic dysplasia
  • Alstrom syndrome

3. Chronic systemic disorders
Hemoglobinopathies, end-stage renal disease, cystic fibrosis, chronic liver disease, inflammatory bowel disease, malignancy, severe obesity, anorexia nervosa etc.

4. Gonadal disorders (Hypergonadotropic hypogonadism)

Boys

  • Congenital anorchia or testicular hypoplasia
  • Mumps or non-specific orchitis
  • Torsion of the spermatic cord
  • Trauma
  • Cryptorchidism with idiopathic fibrosis
  • Surgical castaration
  • Klinefelter syndrome
  • Weinstein syndrome

Girls

  • Turner syndrome
  • Gonadal dysgenesis
  • Ovarian degeneration
  • Gonadotropin resistant ovary syndrome

5. Other endocrinal disorders

  • Hypothyroidism
  • Diabetes mellitus
  • Cushing syndrome
  • Congenital adrenal hyperplasia due tol7-alphahydroxylasc deficiency in girls.

Cafe-au-lait Spots

These are flat, sharply demarcated brown colored (coffee with milk) macules on the skin. In children, upto 5 spots of less than 1.0 cm diameter are considered as normal. When the spots are large in size or excessive in number, they serve as useful markers of following conditions:

  • Neurofibromatosis
  • Gaucher’s disease
  • Ataxia-telangiectasia
  • Tuberous sclerosis
  • Fanconi’s anemia
  • Chronic myeloid leukemia
  • McCune-Albright syndrome
  • Russel-Silver syndrome
  • Bloom syndrome
  • Chediak-Higashi syndrome
  • Epidermal nevus syndrome
  • Multiple lentigenes

Hemihypertrophy

It is characterized by enlargement of one-half of the body or hypertrophy may be limited to the face or one of the extremities. The common causes and its correlates are listed below:

  • Idiopathic
  • Beckwith – Wiedemann syndrome
  • Klippel-Trenaunay-Weber syndrome
  • Cutis marmorata telengiectatica congenita
  • Russel-Silver syndrome
  • Wilms tumor
  • Hepatocellular carcinoma
  • Neurofibromatosis
  • Adrenocortical carcinoma