A case of the cryptophthalmos syndrome.
A case of the cryptophthalmos syndrome is presented, showing bilateral absence of separate eyelids and of the palpebral fissure, the facial skin being continuous over both eyes. Low set ears, marked syndactylies, absence of the urinary tract and external genital hypertrophy were noted, while laryngeal atresia allowed a survival of 5 min only at birth. Histopathological study showed the absence of the conjunctiva, and the ectopic lens surrounded by coarse connective tissue in both eyes. The eyes showed a single chamber: no normal corneal elements, iris or anterior chamber were identifiable and the ciliary body was abnormal. An excessive vascularisation of the peripheral retina and a subretinal deposit of lenticular bladder cells were additional features. The karyotype was that of a normal female.
D000015:Abnormalities, Multiple / Q000473:pathology; D005123:Eye / Q000473:pathology; D005124:Eye Abnormalities; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007908:Lens, Crystalline / Q000473:pathology; D013576:Syndactyly; D013577:Syndrome