Examination under anaesthesia at 4 months of age showed a perforation of the right cornea with a prolapsed iris. The corneal opacity in the left eye was at the level of the posterior stroma. In addition, there were peripheral synechiae and collarette adhesions, retinoscopy showed 10 dioptres of myopia, and examination of the fundus showed a myopic disc. The lens was clear and intraocular pressures were normal.At 8 months of age-her height and weight were below the 3rd centile and her early developmental milestones were within normal limits allowing for the degree of visual handicap. In addition, her skin lesions were much less obvious.Cranial CT scan was normal apart from some enlargement of the third ventricle. Steroid sulphatase activity was present at a normal female level.

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In 1978 Schinzel and Giediont reported male and female sibs with a syndrome characterised by midface retraction, hypertrichosis, multiple skeletal anomalies, and cardiac and renal malformations.Three other cases have subsequently been reported.24 We review the features in these five published cases with five previously unreported cases.

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