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1例罗宾诺-索劳夫综合征(颅缝早闭-拇趾裂综合征):赛特勒-乔岑综合征的等位基因变异型

A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome.

作者信息

Thakur Arpita Rai, Naikmasur Venkatesh G

机构信息

Department of Oral Medicine and Radiology, Faculty of Dentistry, Jamia Millia Islamia, New Delhi, India.

Department of Oral Medicine and Radiology, SDM College of Dental Sciences and Hospital, Dharwad, Karnataka, India.

出版信息

Indian J Dent. 2014 Apr;5(2):96-9. doi: 10.4103/0975-962X.135276.

Abstract

The clinical classification of Robinow-Sorauf syndrome has changed over the last few decades. Robinow-Sorauf syndrome is characterized by facies similar to those of Saethre-Chotzen syndrome with bifid or partially duplicated halluces. The current outlook is that the 'Robinow-Sorauf' families are examples of variable expression of the TWIST mutant phenotype and that the 'Robinow-Sorauf' syndrome lies within the spectrum of the Saethre-Chotzen syndrome. We present a case of 19-year-old female patient exhibiting classical clinical and radiological features of Robinow-Sorauf phenotype of Saethre-Chotzen syndrome. A brief review of previously reported cases and nosology has been presented.

摘要

在过去几十年里,罗宾诺-索劳夫综合征的临床分类发生了变化。罗宾诺-索劳夫综合征的特征是面容与塞特雷-乔岑综合征相似,伴有拇趾分叉或部分重复。目前的观点是,“罗宾诺-索劳夫”家族是TWIST突变表型可变表达的例子,并且“罗宾诺-索劳夫”综合征属于塞特雷-乔岑综合征的范畴。我们报告一例19岁女性患者,其表现出塞特雷-乔岑综合征罗宾诺-索劳夫表型的典型临床和放射学特征。本文还对先前报道的病例和疾病分类学进行了简要回顾。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a69a/4184321/bb7c4ebb90df/IJD-5-96-g001.jpg

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