Cryptophthalmos syndrome with bilateral renal agenesis.
We conducted a postmortem study of an infant with the abortive form of the cryptophthalmos syndrome. He had syndactyly and anal atresia and also showed features of Potter's (renal nonfunction) syndrome, including bilateral renal agenesis, pulmonary hypoplasia, and the typical facies. Histopathologic examination of both globes disclosed that the superior eyelid folds were partially replaced by skin that fused with the superior third of each cornea; there were also anomalies of the superior canaliculi and scarring of the corneas. We found no specific abnormality of the intraocular contents.
D000015:Abnormalities, Multiple / Q000150:complications*; D003394:Craniofacial Dysostosis / Q000150:complications*; D005143:Eyelids / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013576:Syndactyly / Q000150:complications*; D013577:Syndrome