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Bardet-Biedl症狀羣－病例報告
Bardet-Biedl Syndrome Case Report
摘要
Bardet-Biedl本文所報告的病例具一雙眼色素性視網膜病變，肥胖，多指（趾），精神智力遲鈍和生殖器發育不全，完全符合了Bardet-Biedl症狀羣的主要診斷鑑定特徵。身體其他方面並無先天的特殊異常發現，至於欲做進一步的檢查時，由於病人無法合作及家屬的反對而作罷。
關鍵字
無資料並列摘要
The Bardet-Biedl syndrome is an autosomal recessive genetic disorder characterized by structural and functional abnormalities of organ and tissue with diverse embryonic derivation. The Bedet-Biedl syndrome is defined by the presence of five cardial symptoms: pigmentary retinopathy, obesity, polydactyl, or syndactyly, mental deficiency, and hypogonadism or hypogenitalism. Clearly, the Bardet-Biedl syndrome and the Laurence-Moon syndrome are two distinct entities that have been linked. The later is associated with spastic paraparesis eventually. Multiple other deformities associating with Bardet-Biedl syndrome have been found such as congenital cataract, deafness ect. The case has been admitted due to traumatic injury. After ophthalmologic consultation he was found to have the following features: pigmentary retinopathy, polydactyly, obesity, hypogenitalism and metal retardation.
延伸閱讀
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