Campomelia, polycystic dysplasia, and cervical lymphocele in two sibs

Abstract

We report on 2 sibs with a similar MCA pattern consisting of generalized lymphedema, cervical lymphocele, shortness of limbs, bowed long bones, and multicystic kidneys with fibrotic liver or pancreas. To our knowledge, this is the second observation of such a combination of defects in sibs, and it confirms the existence of the syndrome reported by Cumming et al. [1986] and its autosomal recessive inheritance.