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[劳-穆-巴-比综合征]

[Laurence-Moon-Bardet-Biedl syndrome].

作者信息

Lofterød B, Riise R, Skuseth T, Storhaug K

机构信息

Sentralsykehuset for Ostfold, Fredrikstad.

出版信息

Nord Med. 1990;105(5):146-8.

PMID:2349067
Abstract

In 1984, 32 persons with Laurence-Moon-Bardet-Biedl syndrome (LMBB) were registered in Norway. This means that the disorder was seen at a rate of 1 in 128,000 inhabitants. Of these, 26 attended the Frambu Health Centre, where they consulted a pediatrician, a psychologist, a dentist, a social worker, a geneticist, a teacher for the blind and an ophthalmologist. The cardinal signs were retinitis pigmentosa, obesity and polydactyly. We also found that all the patients had disturbance of tooth formation. Many had hypogenitalism. Mental retardation is usually included as a cardinal sign. Our impression is that most of the patients have normal intelligence. But this will be investigated further in a follow-up study on young people with LMBB.

摘要

1984年,挪威登记了32例劳伦斯-穆恩-巴德-比德尔综合征(LMBB)患者。这意味着该疾病的发病率为每12.8万居民中有1例。其中,26人前往弗拉姆布健康中心就诊,在那里他们咨询了儿科医生、心理学家、牙医、社会工作者、遗传学家、盲人教师和眼科医生。主要症状为色素性视网膜炎、肥胖和多指畸形。我们还发现所有患者都有牙齿发育障碍。许多患者有生殖功能减退。智力迟钝通常被列为主要症状之一。我们的印象是大多数患者智力正常。但这将在一项针对LMBB青少年的后续研究中进一步调查。

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