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 obstruction to the drainage of genital secretions. Although most cases of mucometrocolpos are sporadic, it may be part of an autosomal recessive condition, known as McKusick-Kaufman syndrome (MKS), including postaxial polydactyly and congenital heart disease as main findings. The diagnosis may be difficult when the presence of additional findings creates an overlap with other syndromes. We report on a female infant with mucometrocolpos, postaxial polydactyly, congenital heart disease, short limbs, short ribs, and chest constriction. The clinicopathological findings are described and discussed in the context of the phenotypic spectrums of MKS and mucometrocolpos concomitant with Ellis van Creveld syndrome.