Cryptophthalmos, dyscephaly, syndactyly and renal aplasia. Report of a case.
A danish girl with incomplete, bilateral cryptophalmos together with assoicated craniofacial malformations, laryngeal hypoplasia, syndactyly, unilateral renal aplasia and slight external genital abnormalities is reported. Chromosomal abnormalities or metabolic disorders were not demonstrated. As the condition is extremely rare, some clinical and pathological fingings previosuly described in analogous cases are mentioned, together with a few pathogenetic mechanisms. Finally, a discussion regarding the aetiology of the condition is presented. Most authors are convinced that the malformative pattern is a syndrome with an autosomally recessive genetic basis. Added envronmental influence explains the wide range of manifestations and the varying gene expressivity.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D005123:Eye / Q000473:pathology; D005124:Eye Abnormalities; D005260:Female; D005528:Foot / Q000000981:diagnostic imaging; D005532:Foot Deformities, Congenital; D006225:Hand / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D011859:Radiography; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013576:Syndactyly / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome