Mesomelic campomelia, polydactyly and Dandy–Walker cyst in siblings

Abstract

The present report describes two fetuses, one female and one male, with thus far undescribed skeletal malformations. The mother was a gravida 2, para 0. Both pregnancies were terminated in the second trimester because of multiple congenital anomalies diagnosed ultrasonographically resembling a short rib-polydactyly syndrome. Both fetuses were found to have postaxial hexadactyly of the hands and feet, marked bilateral campomelia of the forearm and shank bones, and a Dandy-Walker cyst. In addition, the fourth ventricle was dilated in the first sibling and the second sibling had an inverse intestinal malrotation. A literature search failed to reveal similar observations.

New lethal skeletal dysplasia with Dandy–Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies

“…At least nine skeletal disorders have been reported with Dandy–Walker malformation. These disorders are Ellis–van Creveld [Zangwill et al, 1988], Klippel–Feil syndrome [Asai et al, 1989], asphyxiating thoracic dystrophy [Silengo et al, 2000], Beemer–Langer short rib polydactyly [Lin et al, 1991], chondrodysplasia punctata‐multiple anomalies [Mortier et al, 1998], Dandy–Walker cyst‐osteopetrosis [Ben Hamouda et al, 2001], Guschmann mesomelic campomelia‐polydactyly [Guschmann et al, 2001], Moerman lethal dysplasia [Moerman et al, 1985], and Ritscher–Schinzel syndrome [Ritscher et al, 1987]. However, none of these dysplasias resembles our patients.…”