Nosologic and genetic considerations in the aglossy-adactyly syndrome.

Abstract

A case of the aglossy-adactyly syndrome with a variety of associated anomalies and mental retardation suggests that the disorder may be a more complex dysmorphogenetic syndrome than is currently recognized. It is suggested that at least one and possibly two other conditions presently regarded as nosologically distinct from the aglossy-adactyly syndrome may, in fact, represent the same formal genesis syndrome. Because of the rarity of the condition, the failure to search for minor anomalies in first degree relatives and the lack of careful family histories in most cases, our present understanding of this syndrome is limited although etiologic heterogeneity seems likely.