l na~ J. Pediat. $9 : 76, 197m

FACE OF THE CHILD AS AN INDEX OF DISEASE*

YASH PAUL Jo~pur

The face is not only an index of the mind but also an index of intra- uterine stress and strain, congenital mal- formations and illness.

Facies Broad facies are seen in the basal

cell naevus syndrome. Associated features are mental deficiency and rib anomalies.

Triangular facies are seen in Silver's syndrome. There is a turned down mouth, short stature and clino- dactyly of the little finger.

Heart shaped facies are seen in Turner ' s syndrome.

Round facies are seen in Albright's

hereditary osteodystrophy or pseudohypo- parathyroidism (the associated findings are short stature, mental deficiency and obesity), and cri du chat syndrome.

Flat facies are seen in Down's syndrome, Larsen's syndrome (the associ-

ated findings are short metacarpals and multiple joint dislocations) and the

cerebro-hepatorenal syndrome (associa- ted features are high forehead, short stature, hypotonia, hepatomegaly and death in early infancy).

Coarse facies are seen in cretinism,

generalized gangliosidosis (familial neurovisceral lipidosis, pseudo-Hurler 's syndrome), Hurler 's syndrome and Hunter ' s syndrome. The stature is short in all these conditions. Kyphosis occurs in early infancy in generalized gangliosi- dosis, by one to two years in Hurler 's

*From the Department of Pediatrics, S.N. Medical College, Jodhpur. Received on October IS, t971.

syndrome and is rare in Hunter's syn- drome. The cornea becomes cloudy early in Hurler's syndrome. Stiffness of the joints develops in early infancy in Hurler's syndrome and much later in Hunter's syndrome. Other associated lesions may be renal dysfunction in generalized gangliosidosis, valvular heart disease and claw hand in Hurler's syndrome, and deafness in Hunter's syndrome.

Mildly coarse facies are seen in the

Maroteaux-Lamy syndrome (MPS type VI), Morqulo's disease (MPS type IV) and Sanfilippo syndrome (MPS type III). There is stiffness of the joints in all these conditions. Kyphosls occurs in the Maroteaux-Lamy syndrome and Morqulo's disease. The cornea becomes

cloudy early in the Maroteaux-Lamy syndrome, usually aRer 5 years in Mor- quio's disease and remains clear in the Sanfilippo syndrome.

The face is expressionless in (i) bila- teral Moebius's syndrome, (ii) mental deficiency, (iii) scleroderma of the face and (iv) in collodion face, when the face is encased in a skin which looks as if it has been varnished (icthyosls).

Moon face is seen in Cushing's syn- drome, the nephrotic syndrome, acute nephritis, after treatment with cortico- steroids and the superior vena cava syndrom .

In Hippocratic facies the eyes are sunken and dull, the nose is pinched, and the skin is parched and dark. This

I P A U L ~ F A C E OF T H E C H I L D AS AN I N D E X OF DISEASE 77"

o~u r s in very serious, toxic and preter- minal conditions.

In risus sardonicus (in tetanus) spasm

of-the facial muscles causes retraction o f the angles of the mouth and pursing of

the lips.

Pinched facies are found in marasmus

and dehydration. Facial Nerve Palsy

Facial nerve palsy is due to t rauma ~nd rarely due to agenesis of the facial

nerve nucleus. The trauma may occur in utero, d , r ing labour (including forceps application) or in later life. It may be due to pressure by a tumour, exposure to cold, iefections like poliomyelitis, in- fectious mononucleosis, other virus infec-

tions or polyneuritis. In the nuclear and infranuclear

type of paralysis, the upper and lower areas of distribution of the nerve are affected. The eye cannot be closed firmly, the forehead does not wrinkle, the side of the face appears smooth, the nasolabial fold is obliterated and the corner of the mouth droops. Supranu- clear palsies affect only the lower part of the face, leaving movements of the eyes

and the forehead undisturbed. This type of nerve paralysis is seldom an isola- ted sign but represents intracranial damage of some kind. When the facial nerve paralysis is bilateral, or is unilateral but associated with other cranial nerve palsies especially VI and other congeni- tal defects, nuclear agenesis (Moebius's Iq~adr0me) must be suspected. Micro- gnathia, high arched palate, syndacty- lism, the Klippel-Feil deformity and club feet are some of the commonly associated tkeletal abnormalities. The facies reflect no emotion, pleasant or unpleasant,

resulting unfortunately in a wrong diag- nosis of mental deficiency.

Complete paralysis is evident in repose, while signs of partial paralysis or weakness may have to be elicited by ask- ing the child to show his teeth, whistle or blow his cheeks or by making the infant cry.

Port-wine Marks

A large telangiectasis in the trige-

minal area is seen in the Sturge=Weber syndrome.

Facial A s y m m e t r y

The face may be asymmetrical because of hemiatrophy or due to abnormal posture during intrauterine life. I f the jaw has been held against a

shoulder or an extremity during the in- trauterine period, the mandible may

deviate from t!~e midline. Facial asymmetry may result from excessive moulding of the cranium or from dis- placement of the mandible during breech or face presentations, because the mandi-

ble is the only movable bone in the face and is attached to the cranium only at its

condylar head by the muscles of mastica- tion. Injury, acute infection or arthritis of the growing cartilage of the condylar head during intrauterine life, birth process, infancy or early childhood may result in facial asymmetry. In fibrous dysplasia of the facial bones, overgrowt h o f the bones leads to facial asymmetry. Congenital torticollis also causes asymme-

try of the face.

Lips

The lips are pale in anaemia, and livid in cyanosis and congestive cardiac failure. They are dry and parched in

dehydration.

78 INDIAN JOURNAL OF PEDIATRICS

The distance between the columella of the nose and the upper lip is greater than normal in Hurler 's syndrome.

There may be pits or fistulae on the lower lip in the 'popliteal web syndrome' and the 'lower lip fistula and cleft lip syndrome'.

In cleft lip the cleft may be just a barely perceptible dent in the vermilion

border or it may extend into the nostril; it may be unilateral, bilateral or midline. It may or may not be associated with cleft palate.

The labial or sucking tubercle may

be present in suckling infants. Sucking plaques may also be seen along the edges of the upper and lower lips of the infant who sucks vigorously.

There may be a fusion of the upper lip to the underlying gum in some childlen with chondroectodermal dys-

plasia. The lesions of herpes simplex may

be associated with respiratory or other infections and pyrexla.

Cheilitis Dryness of the lips followed by

wrinkling, scaling and cracking and accompanied by a characteristic burning sensation may be seen during acute febrile states and these changes may also be due to sensitivity to contact substances (toys and food) and photosensitivity to the sun's rays.

Fissuring of the angles of the mouth may be produced by a number of causes. Cheitosis is a form of fissuring caused by riboflavin deficiency. Rhagades are moist, radiat ing lesions occurring about the corners of the mouth in patients with congenital syphilis. Rhagades may also

be seen in children with mongolism and menta l deficiency who drool excessively.

VOL. 39, No. 290

Perlbche is characterized by fissuring, scaling, thinning, macerat ion and crust- ing of the angles of the mouth and is generally caused by Candida albicans and occasionally by streptococci.

A!lergic eruptions Certain substances like toothpastes

may produce eruptions on the lips at the site of contact. The lesions may be vesi-

cular or urticarial.

Mucous retention cysts are caused by occlusion of the orifice of a labial or buccal mucous gland. The cyst is a single teat-like projection filled with a clear fluid and covered by thinned out

mucous membrane.

Swelling of the lips Swelling of one or both lips may be

due to angioneurotic oedema, nephritis, nephrosis, insect bites, t rauma, abscess,

corrosive poisons, carbuncle, cancrum

oris, haemangioma or lymphangioma.

Parted ltps (Open mouth). Parted lips may be caused by obstruction in the nose or nasopharynx in the posterior choanae and large adenoids. It is also seen in mongolism, cretinism and mental defi-

ciency.

N o s e The nose must be examined for its

patency. One should hold the mouth forcibly closed and watch for respiratory

distress. Similarly the patency of both nares can be established by closing the mouth and one naris by turn and watch- ing for obstruction.

The nose should be examined for snuffles (a sign of congenital syphilis), patency of the posterior choanae and the presence of any tumour.

p A U L - - FACE OF T H E C H I L D AS A N INDEX OF DISEASE 7 9

Bridge of the nose: A low nasal bridge (saddle shaped) is seen in achondro- plasia, congenital syphilis, cretinism and following trauma to the nose.

A flattened nasal bridge is seen in Conradi's disease (chondrodystrophia calcificans r cranio-metaphy- ~eal dysplasia of Pyle and aminopterin- induced syndrome (the associated fea- tures are cranial dysplasia and low set ~ars). Short stature is found in all the ~:onditions. Cataract is an additional feature ot Conradi's disease.

Eyes The gap between the two eyes is

incTeased (hypertelorism) in Ehler-DanloS syndrome, Bonnevie-Ullrich syndrome, Waardenburg's syndrome, and Schmid Fraccaro syndrome. Hypo~elorism is "seen in arhinocephaly and trigonoce- phaly.

Epicanthic folds are prominent in ~mongolism, the XXXXY syndrome (associated features are upslanting of the palpebral fissure, limited elbow prona- tion, hypogenitalism, mental deficiency and sholt stature), the Ehler-Danlos syndrome, congenital ptosis of the eyelids, the Bonnevie-Ullrich syndrome, severe infantile hypercalcaemia, glycogen sto- rage disease of the muscles and bilateral renal agenesis.

Upward slaqt of eyes The palpebral fissure slants upwards

from within outward in Down's syn- drome, the penta-X syndrome (an additional feature is patent duetus arteri- ~sus, and chromosomal studies show ~XXXXX), the X X X X Y syndrome, the Rubinstein-Taybi syndrome (associated features are maxillary hypoplasia, micro- eephaly, broad thumbs and toes, mental

deficiency and short stature), and the Prader-Willi syndrume (associated features are hypogenitalism, diabetes mellitus, hypotonia and obesity).

Downward slant of eyes It is seen in chromosome 21

longarm deletion syndrome (associated features are micrognathia and large malformed external ears), the Treacher- Collins syndrome, the Schmid-Fraccaro syndrome (cat eye syndrome; associated features are hypertelorism, coloboma of the iris and anal atresia).

Sunken, expressionless eyes are seen in critically ill, severely dehydrated and malnourished children.

Exophthalmos. Unilateral or bilate- ral exophthalmos is seen in neuroblas- toma, orbital sarcoma, retinoblastoma, gliosis of the optic chiasma, retro-orbital tumours and abscesses, intraorbltal glioma, cystic eye, hyperthyroidism, cavernous sinus thrombosis, the Hand- Schuller-Christian syndrome, arteriove- nous aneurysm, orbital and retro-orbital haemorrhage, orbital cellulitis, Crouzon's disease (craniofacial dysostosis), cranio- synostosis, fibrous dysplasia of the facial bones, anterior menir~gocoele or encepha- locoele, neurofibromatosis, polyostotic fibrous dysplasia, mucormycosis, congeni- tal glaucoma, (it may be an associated finding in aniridia, pigmentary glaucoma, Axenfeld's syndrome, the Sturge-Weber syndrome, neurofibromatosis, Marfan's syndrome, Lowe's syndrome, and leukae- mia (by infiltration or haemorrhage).

Pulsating exophthalmos It is almost invariably unilateral,

and is seen in arteriovenous aneurysms or fistulous connections between the in- ternal carotid artery and the cavernous sinus.

80 INDIAN JOURNAL OF PEDIATRICS VOL. 39, No. 290

Cornea

The cornea may be cloudy due to vitamin A deficiency, and/or chronic trachoma. The cornea is cloudy in the following syndromes also: Hurler's syn- drome, the Maroteaux-Lamy syndrome (MPS type VI), Morquio's syndrome (MPS type IV), the Scheie syndrome (MPS type V, in which the features resemble Hurler's syndrome but intelli- gence and stature are normal and there is no kyphosis) and Mieten's syndrome (associated features are flexion contrac- ture of the elbow, short stature and mental deficiency). Opacification of the cornea and an unusually large cornea (bigger than l l ram.) should make one suspect congenital glaucoma.

Nystagmoid movements are seen in subdural haematoma and other causes of intracramal damage, or central vision impairment due to opacification of the lens (cataract), haziness of the cornea (glaucoma), opacification of the vitreous (retrolental fibroplasia), and macular degeneration due to chorioretinitis. It may also be a case of congenital idiopa- thic nystagmus.

Strabismus Strabismus may be paralytic or

concomitant. It may be congenital, acquired or a pseudostrabismus due to prominent epicanthic folds. I f a flash light is turned on in front of the eyes the bright points of reflex in the case of pseudostrabismus will be seen to fall in corresponding locations in each eye in all the positions, whereas in true strabis- mus the points of light will be asymme- terical in some or all positions.

Ptosis (Drooping of the upper eyelid).

Inability to raise one or both upper eyelids may be encountered as a solitary congenital defect or in association with inability to move the eye ball upward. It may be unilateral or bilateral. Isola- ted ptosis results when the superior rectus muscle forms and becomes functional, but its bud either fails to form entirely or produces a defective levator. The combi- nation results from total failure of the superior rectus muscle to develop along with its offshoot, the levator palpebrae superioris. Other causes are paralysis or involvement of the oculomotor nerve, its nucleus or cortical centre (leading to paralysis of the levator palpebrae muscle) when the ptosis is unilateral, complete and associated with a squint and large pupil, involvement with paralysis o[ the cervical sympathetic nerve (Horner's syndrome) when the ptosis is generally unilateral, partial and with a small pupil, oedema, tumour or trachoma of the eyelid causing increase in the weight of the lid, encephalitis lethargica, tetanus, acute infectious polyneuritis, botulism, myasthenia gravis (ptosis is bilateral, transitory and develops towards the evening from muscle fatigue), ocular myopathy, marasmus, general debility or dehydration, trigeminal neuralgia, cere- bral ptosis (isolated ptosis), and hysteria.

Oedema of Eyelids Puffiness of the eyelids, especially

the lower lid, may be physiological or pathological. Physiological causes a re lack of sleep or excessive crying. Pa tho- logical causes are nephritis, the nephrotic syndrome, hypoproteinaemia, anaemia,. beriberi, allergic states (hay fever, insect bite, angioneurotic oedema), trichinosis,. measles, whooping cough, small pox,.

p A U L ~ F A C E OF THE CHILD AS AN INDEX OF DISEASE 8 I

chicken pox, the superior vena cava syndrome, intracranial lesions, caver- nous sinus thrombosis, iodism and local

eye disease.

Pupils : The size of the pupils on both sides

should be equal and reactive to light.

Dilated pupils occur in glaucoma, retinoblastoma (the additional findings are strabismus, greyish-yellow reflex from behind the pupil, phthisical eyes), paraly- sis or involvement of the oculomotor nerve, its nucleus or cortical centre (the additional findings are strabismus and ptosis), and Adie's syndrome, where one pupil is larger and myotonic, and the patellar and Achilles reflexes are often

absent. A small pupil occurs in Horner 's

syndrome (due to involvement of the cervical sympathetic nerve, and ptosis is

also present).

Ltukocoria (white pupil) : A white pupillary reflex is seen in

cataract, retrolental fibroplasia, retino" blastoma, persistent primary hyperplastic

vitreous, severe intraocular infection and exudative retinopathy.

Ears In malformations stemming from

the first branchial arch, t he ears may be malformed. One must always look care- fully for abnormal skin tags, dimples and deep sinuses, especially in front of

and below the tragus. The ears can be grossly malformed, unusually large or small or unusually low set on the head.

Very lowset ears of unusual size and floppiness should suggest renal agenesis.

In trisomy 18 (trisomy 16-18,

trisomy of Group E, and trisomy 13-15 (D) the ears are abnormal and low set.

In oculo-auricolovertebral dysplasia (Goldenhaar 's syndrome) one or both external and middle ears may be absent, displaced downward or malrotated, or there may be one or more tags.

Micrognathia Hypoplasia of the mandible is en-

countered uncommonly as an isolated finding but more often as a part of a group of signs.

Bilateral injuries to the growing cartilage of the condylar head of the mandible result in failure of the man- dible and chin to grow downward and forward, causing the entire mandible to be considerably smaller than normal and much retruded.

In the Pierre-Robin syndrome micrognathia is associated with cleft palate, glossoptosis, retraction of the sternum and cyanosis.

In trisomy 18 (trisomy 16-18, trisomy of group E) the micrognathia may be associated with any or all of the f o l l o w i n g : Microstomia, low-set and abnormal ears, mental retardation, characteristically flexed fingers with flexion contraction of the two middle digits, which are overlapped by the flexed thumb and index and little fingers, congenital heart defect (almost always a ventricular septal defect often coupled with patent ductus arteriosus), rocker- bottom feet, syndactyly, an abnormally jut t ing occiput, ptosis of one or both eyelids, genitourinary defects, hernias, simian palmar crease and preponderance of arch patterns on dermatoglyphic studies.

In the r du chat (cat's cry) syndrome, micrognathia is associated

82 INDIAN JOURNAL OF PEDIATRICS VOL. 39, No. 290

with microcephaly, epicanthie folds, oblique patpebral fissures, hypertelorism, low set ears, severe mental re tardat ion mad a peculiar cry resembling that of a cat.

In mandibulofacial dysostosis (the Treacher Collins syndrome) microgna- thia is associated with ocular fissures slanting downwards from within out. Other associated defects include highly arched palate, glossoptosis and large, floppy, low-set ears.

In the Cornelia de Lange syndrome, the mandible is small and associated with synophrys (continuous eyebrows)

and thin turned down upper lip. In the chromosome 21 long arm

deletion syndrome, the associated findings

are downslanting palpebral fissures, large malformed external ears, mental deficiency and short stature.

In the Hal lerman Streiff syndrome,

micrognathia is associated with micro- ph tha lmia and cataract , small pinched nose, hypclrichosis and short stature.

Skin Eruptions (Only common conditions encoun-

tered are enumerated).

(1). Macules: Fixed drug eruption

(mostly barbiturates and phenolphtha-

lein), lupus erythematosus, rubella and rubeola .

(2). Papules: Molluscum contagiosum, ache, milia, chronic eczematous dermati- tis, lupus erythematosus, erysipelas, and early phase of varicella.

(3). Vesicles or bullae: Acute contact

eczematous dermatitis, herpes simplex, bullous impetigo, variola, varicella, and bullous erythema multiforme.

(4). Pustulr Ache, impetigo, furun-

ties, variola (multilocular) and varicella.

(5). Scales: Seborrheic dermatitis, sub- acute eczematous dermatitis, and lupus erythematosus. (6). Crusts: Impetigo, acute contact eczematous dermatitis, and herpes simplex. (7). Purpura.

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