1315 SYNDROMIC AND ISOLATED CRYPTOPHTHALMOS

Abstract

Cryptophthalmos syndrome is an autosomal recessive pattern of malformation characterized by cryptophthalmos, syndactyly, laryngeal atresia, abnormal genitalia and renal agenesis. We have found 72 cases of the syndrome and 40 of isolated cryptophthalmos among 112 cases reported in the literature since Zehender's first description in 1872. The isolated cases, which have not been previously analyzed, contain three families showing vertical transmission, while the syndromic ones suggest autosomal recessive inheritance. We report three stillborn siblings pairs who presented with cryptophthalmos, bilateral renal agenesis, oligo-hydramnios sequence, genital abnormalities and syndactyly. Four had laryngeal stenosis or atresia and two siblings had aplasia or hypoplasia of the thymus. Review of the literature and our own experience illustrate the high frequency of renal agenesis in Cryptophthalmos syndrome and the existence of the disorder without cryptophthalmos. Abnormalties similar to those found in this syndrome, some of which may involve defects in programmed cell death, have been observed in two vitamin A deprived animal models. The Cryptophthalmos syndrome should be considered more frequently in the differential diagnosis of multiple congenital malformations, especially when associated with renal agenesis and even in the absence of cryptophthalmos.