Syndrome de Laurence - Biedl: Deux Cas Chez Deux Freres

Syndrome de Laurence - Biedl: Deux Cas Chez Deux Freres

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2 cases of Laurence- Moon-Biedl syndrome are described in 2 rothers. They have 5 out of 6 cardinal symptoms of this syndrome i.e. : I) Obesity ,2) genital dystrophia, 3) retinitis pigmentosa, 4)menal deficiency, 5) familial occurrence. Besides, their only sister has ocular signs of beginning of ret...

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Main Author: A. T. Naficy
Format: Article
Language:English
Published: Tehran University of Medical Sciences 1957-06-01
Series:Acta Medica Iranica
Online Access:https://acta.tums.ac.ir/index.php/acta/article/view/21
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spelling doaj-4445fdf9b64c4e36a8577b8a119e787d2020-11-25T01:46:22ZengTehran University of Medical SciencesActa Medica Iranica0044-60251735-96941957-06-0112Syndrome de Laurence - Biedl: Deux Cas Chez Deux Freres A. T. Naficy0 2 cases of Laurence- Moon-Biedl syndrome are described in 2 rothers. They have 5 out of 6 cardinal symptoms of this syndrome i.e. : I) Obesity ,2) genital dystrophia, 3) retinitis pigmentosa, 4)menal deficiency, 5) familial occurrence. Besides, their only sister has ocular signs of beginning of retinitis igmentosa and one of their relatives had polydactylism and another ne cretinism. What is curious in these case is the coexistence of rotatory stagmus in the eyes and a peculiar dark discoloration of the axillar, guinal and pubic regions ressembling acanthosis nigricans. It might be another proof of the syndrome believed by Some rvers to be the region of hypophyse and hypothalamus. https://acta.tums.ac.ir/index.php/acta/article/view/21
collection DOAJ
language English
format Article
sources DOAJ
author A. T. Naficy
spellingShingle A. T. Naficy
Syndrome de Laurence - Biedl: Deux Cas Chez Deux Freres
Acta Medica Iranica
author_facet A. T. Naficy
author_sort A. T. Naficy
title Syndrome de Laurence - Biedl: Deux Cas Chez Deux Freres
title_short Syndrome de Laurence - Biedl: Deux Cas Chez Deux Freres
title_full Syndrome de Laurence - Biedl: Deux Cas Chez Deux Freres
title_fullStr Syndrome de Laurence - Biedl: Deux Cas Chez Deux Freres
title_full_unstemmed Syndrome de Laurence - Biedl: Deux Cas Chez Deux Freres
title_sort syndrome de laurence - biedl: deux cas chez deux freres
publisher Tehran University of Medical Sciences
series Acta Medica Iranica
issn 0044-6025
1735-9694
publishDate 1957-06-01
description 2 cases of Laurence- Moon-Biedl syndrome are described in 2 rothers. They have 5 out of 6 cardinal symptoms of this syndrome i.e. : I) Obesity ,2) genital dystrophia, 3) retinitis pigmentosa, 4)menal deficiency, 5) familial occurrence. Besides, their only sister has ocular signs of beginning of retinitis igmentosa and one of their relatives had polydactylism and another ne cretinism. What is curious in these case is the coexistence of rotatory stagmus in the eyes and a peculiar dark discoloration of the axillar, guinal and pubic regions ressembling acanthosis nigricans. It might be another proof of the syndrome believed by Some rvers to be the region of hypophyse and hypothalamus.
url https://acta.tums.ac.ir/index.php/acta/article/view/21
work_keys_str_mv AT atnaficy syndromedelaurencebiedldeuxcaschezdeuxfreres
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