Bardet-Biedl syndrome with syndrome X: A patient report


Keskin M. , Atabek M., Kurtoglu S.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.17, ss.913-915, 2004 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 17 Konu: 6
  • Basım Tarihi: 2004
  • Doi Numarası: 10.1515/jpem.2004.17.6.914
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayıları: ss.913-915

Özet

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.