DIAGNOSTIC PROBLEMS IN A CASE WITH MUCOMETROCOLPOS, POLYDACTYLY, CONGENITAL HEART-DISEASE, AND SKELETAL DYSPLASIA

Mucometrocolpos is the distention of the uterus and vagina caused by o bstruction to the drainage of genital secretions. Although most cases of mucometrocolpos are sporadic, it may be part of an autosomal recess ive condition, known as McKusick-Kaufman syndrome (MRS), including pos taxial polydactyly and congenital heart disease as main findings. The diagnosis may be difficult when the presence of additional findings cr eates an overlap with other syndromes, We report on a female infant wi th mucometrocolpos, postaxial polydactyly, congenital heart disease, s hort limbs, short ribs, and chest constriction, The clinicopathologica l findings are described and discussed in the context of the phenotypi c spectrums of MRS and mucometrocolpos concomitant with Ellis van Crev eld syndrome. (C) 1996 Wiley-Liss, Inc.