Bardet-Biedl syndrome with syndrome X: a patient report.
Bardet-Biedl syndrome (BBS) is an autosomal recessive condition with a wide spectrum of clinical features. The principal manifestations are rod-cone dystrophy (sometimes called atypical retinitis pigmentosa), postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. The clinical diagnosis of syndrome X defines a patient with abnormal glucose metabolism, hypertension, hyperlipidemia and obesity. We report here a 15 year-old girl with BBS presenting with syndrome X.
Keskin
Mehmet
M
Department of Pediatrics, Erciyes University, School of Medicine, Kayseri, Turkey.
Atabek
M Emre
ME
Kurtoğlu
Selim
S
D000293:Adolescent; D020788:Bardet-Biedl Syndrome / Q000150:complications* / Q000235:genetics; D002874:Chromosome Mapping; D005260:Female; D006801:Humans; D024821:Metabolic Syndrome / Q000097:blood / Q000209:etiology*