[劳-穆-巴-比综合征病例报告]
[Case report of Laurence-Moon-Bardet-Biedl syndrome].
作者信息
Osusky R, Alsaadi A H, Farpour H
机构信息
Universitätsaugenklinik Basel.
出版信息
Klin Monbl Augenheilkd. 1991 May;198(5):445-6. doi: 10.1055/s-2008-1046006.
We report a case of Laurence-Moon-Bardet-Biedl Syndrome with all five recognised features: tapetoretinal dystrophy, polydactily, obesity, mental retardation and hypogonadism. Nevertheless the correct diagnosis was delayed due to the fact, that the patient has a macular dystrophy (instead of a pigmentary retinopathy). He had an operation of the polydactily during childhood. This was not revealed at first. The case underlines the importance of an exact anamnesis of the parents.
我们报告一例具有所有五项公认特征的劳伦斯-穆恩-巴德-比德尔综合征：视网膜色素变性、多指畸形、肥胖、智力迟钝和性腺功能减退。然而，由于患者患有黄斑营养不良（而非色素性视网膜病变），正确诊断被延迟。他在童年时期接受了多指畸形手术。起初并未发现这一点。该病例强调了对父母进行准确问诊的重要性。
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