CRYPTOPHTHALMOS, DYSCEPHALY, SYNDACTYLY AND RENAL APLASIA

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Abstract
A danish girl with incomplete, bilateral cryptophthalmos together with associated 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 findings previously 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 environmental influence explains the wide range of manifestations and the varying gene expressivity.

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