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A rare autosomal recessive syndrome characterized by severe skeletal dysplasia, facial dysmorphic features, polycystic kidney disease and other visceral malformations. It may be lethal in utero or early in life. The skeletal features uniformly comprise a round pelvis, mesomelic shortening of the upper limbs and defective ossification of the cervical spine.




Polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia


Congenital disorder of glycosylation


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