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

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

Author information

1
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
DOI:
10.1002/ajmg.1320440302
[Indexed for MEDLINE]

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