Am J Med Genet. 1992 Oct 1;44(3):269-73.

Cystic kidney dysplasia and polydactyly in 3 sibs with Bardet-Biedl syndrome.

Gershoni-Baruch R, Nachlieli T, Leibo R, Degani S, Weissman I.

Source

Department of Pediatrics, Rambam Medical Center, Haifa, Israel.

Abstract

Two infants with cystic kidney dysplasia and polydactyly were born to consanguineous parents. One infant died at age 2 months, and the other is currently 3.5 years old. A third pregnancy was terminated following ultrasonographic visualization of large echo-dense fetal kidneys and polydactyly. Although none had apparent brain anomalies, they were considered to represent the Meckel syndrome. Extinguished responses on electroretinography in our 3.5-year-old patient has led to the diagnosis of Bardet-Biedl syndrome. This observation offers an opportunity to revisit the Bardet-Biedl syndrome and provides further evidence that structural renal abnormalities are characteristic of the syndrome. We wish to alert the clinician to the diagnosis of Bardet-Biedl syndrome in patients with infantile cystic kidney dysplasia.

PMID:: 1488972; [PubMed - indexed for MEDLINE]

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Cited by 2 PubMed Central articles

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