Blue sclerae and keratoglobus. Ocular signs of a systemic connective tissue disorder.

The following case is reported because of the rarity with which keratoconus or kerato- globus is associated with blue sclerae.Examination of the family of the propositus and a study of the literature suggest that these findings may be the ocular manifestations of a distirct, heritable disorder of connective tissue.Case report A 4-year-old girl was referred to the department of ophthalmology of the Rothschild Hospital, Haifa, because of a blue discoloration of the sclerae from birth, bulging of the eyes which had been first noticed at the age of 4 months, and apparent short sight.The child was the product of a normal pregnancy and a normal full-term delivery.The birth weight was 3-6 kg.There had been three episodes of bronchopneumonia in the past which responded satisfactorily to antibiotics.There wvas no history of fractures or dislocations.PHYSICAL EXAMINATION The child was reasonably well nourished and in good general condition.Her height was I03 cm.(5oth percentile) and her weight I5 kg.(25th percentile).There was marked hypotony of the limbs, hyperextensibility of the joints throughout the body (Fig. I), and a small umbilical hernia.The skull was elongated in its antero-posterior axis, giving the impression of scaphocephaly.The skin was highly freckled but of normal texture and elasticity.The hair was FIG Left hand of propositus, showing hyper- extension of wrist and metacarpophalangeal joints ginger in colour.There was a bilateral hearing loss due to chronic otitis media and cholesteatoma.The teeth were in poor condition and dental examination established a diagnosis of dentinogenesis imperfecta.The rest of the physical examination was normal.