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Limb reduction defects and renal dysplasia: confirmation of a new, apparently lethal, autosomal recessive MCA
C Schrander-Stumpel1, C de Die-Smulders, J P Fryns
1Department of Genetics, Academic Hospital Maastricht, State University of Limburg, Maastricht, The Netherlands.
Abstract:
We report on 2 sibs, a male and a female, who died shortly after birth from respiratory failure. They combined growth retardation with a Potter-like face, complete phocomelia of the upper limbs, rib anomalies (mainly severe hypoplasia of the 6 upper ribs), renal dysplasia, and external genital abnormalities. We hypothesize that these cases represent evidence for the existence of the "new syndrome" described by Ulbright et al. (Am J Med Genet 17:667-668, 1984). This syndrome appears lethal because of the severe renal dysplasia that causes oligohydramnios and pulmonary hypoplasia. Its mode of inheritance seems to be autosomal recessive.