Laurence-Moon-Biedl症候羣－兩例報告

Laurence-Moon-Biedl Syndrome: Two Cases Report

王俊卿(Jin-Ching Wang) ； 簡美華(Mei-Hua Chien) ； 林淑妍(Sue-Ann Lin)

《中華民國眼科醫學會會刊》 25卷1期 (1986/05) Pp. 335-339

https://doi.org/10.30048/ACTASOS.198605.0062

摘要

Laurence-Moon-Biedl症候群為一少見的先天性疾病，通常是體染色體隱性遺傳，其五個主要診斷特徵為：色素性網膜病變、肥胖、智能不足、生殖器發育不良、多指（趾）畸型。近年來，有些學者認為泌尿系統的異常應列為第六個診斷特徵。本篇報告兩例年輕女性，均具有完全的五項特徵。此外，在眼科方面，都有外斜視及近視散光。泌尿系統方面，靜脈注射腎臟造影檢查時，都發現有兩側末端腎盞杵狀變化的現象，但是腎臟功能仍然正常。

並列摘要

Laurence-Moon-Biedl syndrome is an autosomal recessive genetic disorder, which was by five cardinal criteria: pigmentary retinopathy, obesity, polydactyly or syndactyly, mental retardation and hypogenitalism.
We present two cases of young female patients who had all five cardinal criteria. Besides retinitis pigmentosa, they were also found to have exotropia and myopic astigmatism. Intravenous pyelography found dilatation of renal calyces, though the renal function was normal. One case had diabetes mellitus and the other had slight hypopituitarism.

並列關鍵字

Laurence-Moon-Biedl syndrome ； pigmentary retinopathy ； obesity ； polydactyly ； mental retardation ； hypogenitalism