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Am J Med Genet. 2000 Jan 31;90(3):185-7.

New syndrome?: Three sibs diagnosed prenatally with situs inversus totalis, renal and pancreatic dysplasia, and cysts.

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  • 1Department of Clinical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey. faltin@gen.hun.edu.tr

Abstract

Recently we described a previously apparently undescribed autosomal recessive syndrome in two sib fetuses with situs inversus totalis, cystic dysplastic kidneys and pancreas, bowing of the lower limbs and clavicles, severe intrauterine growth retardation, and oligohydramnios. This syndrome differs from that of Ivemark and related syndromes due to lack of liver involvement. After these two sibs, this consanguineous family had a third child and an early prenatal diagnosis of pancreatic and dysplastic renal cysts was made in the 19.5-week-old fetus. The last case supports the genetic hypothesis.

PMID:
10678653
[PubMed - indexed for MEDLINE]
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