Introduction
The premature fusion of skull bones with associated congenital deformities of limbs was noted by Apert in 1906 which was described as Apert’s syndrome. Later Crouzon in 1912 described hereditary craniofacial dysostosis, a familial malformation of the face and skull bones.

Case Report
A 15 month old boy, admitted for loose motions and dehydration was referred to Ophthalmic services for evaluation.

Table 1

	Apert’s	Crouzon’s	Present
Milestones	Severely delayed	N or delay	Delayed
Mental development	Severe M.R	N or mild	Mental Retardation
Stature	Short	N	Short
Head	Acrocephaly, Suprooibital depression	Cecrocephaly	Acrocephaly, frontal bossing
Palate	High arched with furrow in midline, cleft palate	High palate No furrow	High arched palate
Ears / Hearing Hands	Malformed Ears, deafness later Syndactyly of hands and feet	Low set, deafness early in life N	Low set ears, deafness Supernumary toes +
Cervical Spine	Fusion C5 - C6 on C3 - C4	Butterfly Vertebrae C2-C3	Spina Bifida
Other System	Abnormalities of Heart,	—	—
	Lung and Kidney
X-ray Skull	Synostosis	Raised ICT. Premature closure of coronal and sagittal sutures. Prognathism	Spina Bifida - Lower vertebrae
CT Scan	Hydrocephalus Absent Corpus Callosum Abnormal Ventricle and Septum Pellucidum	No Hydrocephalus Raised ICT	Dilatation of 3rd and lateral ventricles, Ballooning of Fronto-Parietal bones
Ophthalmic	Anti- Mongoloid Slant, Shallow Orbits, Proptosis, Exotropia, Hypertelorism Keratoconus, Ectopic Lens, Glaucoma, Staphyloma	Exophthalmos, Spontaneous luxation, ‘v’ Exotropia Hypertelorism, Nystagmus, Corneal malformation, Cataract, Aniridia, Blue Sclera, Ectopic Lens	Hypertelorism, Subluxated globes, Proptosis, Lagophthalmos, Exposure Keratopathy

O/E
Patient had large head with bulging anterior fontanelle, large distended scalp veins with head lag, frontal prominence, hypertelorism, antimongoloid slant, sparse eye brows and the globe was proptosed with shallow orbit. Ears were low set and the child had hearing loss. The child’s maxilla seemed hypoplastic, he had high arched palate, irregular dentition.

Vision : Child was following light

Conjunctiva, Cornea : Patient had Keratomalacia which was sealed. Rest details were not seen as there was hypotony and all EOM were present.

CNS : There was head lag but no neck holding. Child was irritable. There was generalized muscular atrophy with hypotony and Gr III power in all limbs. The fingers were long, slender (There was a single café au lait spot on left lower limb about 1 x 1 cm).

I and II Cranial nerves couldn’t be tested but 3, 4, 5, 6, 7, 9, 10, 11, 12 seemed to be normal .The child had 8th nerve involvement and did not respond to sound.

RS, CVS, GIT : Nothing abnormal was detected.

His weight was 4.5 kg and height 66 cm only.

Investigation
His counts were low

Hb was 6 gm% with PMNcytosis.

Stools had plenty of RBCs, mucus and bacteriae.

CT scan showed severe dilatation of frontal horn of lateral ventricle and also III ventricle. There was deformity of skull in the form of ballooning of fronto- parietal bones and anterior fontanelle.

Discussion
This patient had overlapping Crouzon’s and Apert’s syndrome features and additional features like spina bifida and supernumary toes. This can be a variant of Apert syndrome (Table 1).

References

1. Cinalli G, Renier D, Sebag G, Sainte –Rose C, Arnaud E, Pierre – Khan A. “Chiari Malformation in Crouzon syndrome”.
2. Taylor WJ, Hayward RD, Lasjaunias P, Britto JA, Thompson DN, Jones BM, Evans RD. “Enigma of raised intracranial pressure in patients with complex craniosynostosis : the role of abnormal intracranial venous drainage”.
3. Rollins N, Booth T, Shapiro K. “MR venography in children with complex craniosynostosis".

Department of Ophthalmology, TN Medical College and BYL Nair Ch. Hospital, Mumabi Central, Mumbai 400 008.