W. Reardon et al., MESOMELIC LIMB SHORTNESS - A PREVIOUSLY UNREPORTED AUTOSOMAL RECESSIVE TYPE, American journal of medical genetics, 47(5), 1993, pp. 788-792
We report on sibs, the offspring of a consanguineous mating, whose mes
omelic shortness and bowing of limbs with associated skin dimpling, re
trognathia, mandibular hypoplasia, cleft palate, and camptodactyly rep
resents a previously apparently unreported syndrome. The radiological
findings are discussed, particularly with regard to the main known dia
gnostic possibilities. (C) 1993 Wiley-Liss, Inc.