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伴有智力发育迟缓及心理异常发育的乔特津-赛特勒综合征

[Chotzen-Saethre syndrome with oligophrenia and psychological abnormal development].

作者信息

Fehlow P, Walther F

机构信息

Bezirkskrankenhaus für Psychiatrie und Neurologie, Mühlhausen.

出版信息

Psychiatr Neurol Med Psychol (Leipz). 1990 Jun;42(6):364-8.

PMID:2402544
Abstract

A weak minded man aged 31 years exhibited with moderate acrobrachycephalia, basal cutaneous syndactylies of the 2nd and 3rd fingers, marking symptoms of the Saethre-Chotzen syndrome (SCS), with dominant inheritance in three generations. Additionally there were symptoms of Ascher's syndrome, blepharochalasis, goitre and broad lower lip. The psychic maldevelopment is considered in association with a syndrome of the frontal lobe. Severe craniostenosis is rare at SCS; cosmetic handicap and obstruction of the nasal airway can be corrected by craniofacial surgeon.

摘要

一名31岁的低智男性表现出中度尖头并指(趾)畸形、第2和第3指基部皮肤并指,具有赛-乔综合征(SCS)的标志性症状,三代呈显性遗传。此外,还有阿舍尔综合征的症状、眼睑皮肤松弛、甲状腺肿和下唇宽厚。精神发育不良被认为与额叶综合征有关。严重的颅骨狭窄在SCS中很少见;颅面外科医生可纠正外貌缺陷和鼻气道阻塞。

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