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Journal of Child Neurology
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Cerebellar Vermis Hypoplasia in a Patient With Bardet-Biedl Syndrome

Esra Baskin

Department of Pediatrics, esrabaskin{at}hotmail.com

Sinan Mahir Kayran

Department of Pediatrics

Sibel Oto

Department of Ophthalmology

Ftisun Alehan

Department of Pediatric Neurology

A. Muhtesem Agildere

Department of Radiology Ümit Saatqi

Ümit Saatçi

Department of Pediatrics Baskent University Faculty of Medicine Ankara, Turkey

Laurence-Moon-Bardet-Biedl syndome is an autosomal recessive condition characterized by retinal dystrophy, obesity, mental retardation, distal limb anomaly, hypogonadism, and renal dysfunction. The symptoms vary among families and even among affected siblings. Certain clinical signs have been used to identify subgroups of patients with this complex condition. Laurence-Moon syndrome as a distinct entity is rare and features paraplegia in the absence of polydactyly or obesity. Bardet-Biedl syndrome is characterized by distal limb anomaly, obesity, and renal involvement, but neurologic symptoms are very unusual. We report a patient exhibiting characteristic features of Bardet-Biedl syndrome in addition to cerebellar vermis hypoplasia and mega cisterna magna. (J Child Neurol 2002;17:385-387).

Journal of Child Neurology, Vol. 17, No. 5, 385-387 (2002)
DOI: 10.1177/088307380201700514
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