Berardinelli-Seip syndrome type 1 in an Egyptian child.

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ijhg2014v20n1p75.pdf (996.51 KB)
Date
2014-01
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Abstract
Berardinelli‑Seip syndrome type 1 or Berardinelli‑Seip congenital lipodystrophy 1 (BSCL1) is a very rare genetic disorder characterized by lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. Its prevalence in Egypt is not known. Here, we report case of a 12‑year‑old Egyptian boy with the clinical, metabolic and molecular genetics manifestations of BSCL1 including overt diabetes mellitus.
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Acromegaloid features, Berardinelli‑Seip syndrome type 1, diabetes mellitus, hypertriglyceridemia
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Metwalley Kotb Abbass, Farghaly Hekma Saad. Berardinelli-Seip syndrome type 1 in an Egyptian child. Indian Journal of Human Genetics. 2014 Jan-Mar ;20 (1): 75-78.
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https://imsear.searo.who.int/handle/123456789/156638
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Indian Journal of Human Genetics