title: Cystic kidney dysplasia and polydactyly in 3 sibs with Bardet-Biedl syndrome.
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.
authors: Department of Pediatrics, Rambam Medical Center, Haifa, Israel.
authors: R
authors: R
authors: Gershoni-Baruch
authors: T
authors: T
authors: Nachlieli
authors: R
authors: R
authors: Leibo
authors: S
authors: S
authors: Degani
authors: I
authors: I
authors: Weissman
mesh_terms: D002526:Cerebellar Diseases; D003241:Consanguinity; D003937:Diagnosis, Differential; D004677:Encephalocele; D005145:Face / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D007690:Polycystic Kidney Diseases / Q000175:diagnosis*; D011247:Pregnancy; D012174:Retinitis Pigmentosa; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*; D016216:Ultrasonography, Prenatal