{"title":"Aarskog-Scott syndrome: One case report","authors":"Ziqin Liu, Xiaobo Chen","doi":"10.3760/CMA.J.CN311282-20190718-00282","DOIUrl":null,"url":null,"abstract":"Aarskog-Scott syndrome is an orphan disease, the typical manifestations include special facial feature, short stature, genital anomalies and skeletal dysplasia. We reported a male patient, three years six months old, admitted because of slow growth in height for 3 years. His stature was 90 cm(<P3, -3 SD). He presented special facial features, hyperextensible joints, brachydactyly, a shawl scrotum, and left cryptorchidism. He was found to have a genomic deletion (1.1 Mb) involving exons 9 to 12 in the FGD1 gene inherited by his mother. The patient met the clinical diagnostic criteria of the Aarskog-Scott syndrome. He was given growth hormone treatment from 5 years old, found 17 cm growth within 18 months. There was no adverse event of growth hormone therapy. This reminds us when a short patient showing a facial-digital-genital triad signs, Aarskog-Scott syndrome should be considered.\r\n\r\n\r\nKey words: \r\nFGD1; Special facial feature; Short stature; Skeletal dysplasia; Genital anomality","PeriodicalId":10120,"journal":{"name":"中华内分泌代谢杂志","volume":"36 1","pages":"253-256"},"PeriodicalIF":0.0000,"publicationDate":"2020-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"中华内分泌代谢杂志","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3760/CMA.J.CN311282-20190718-00282","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
Aarskog-Scott syndrome is an orphan disease, the typical manifestations include special facial feature, short stature, genital anomalies and skeletal dysplasia. We reported a male patient, three years six months old, admitted because of slow growth in height for 3 years. His stature was 90 cm(
中华内分泌代谢杂志Medicine-Endocrinology, Diabetes and Metabolism
CiteScore
0.60
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0.00%
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7243
期刊介绍：
The Chinese Journal of Endocrinology and Metabolism was founded in July 1985. It is a senior academic journal in the field of endocrinology and metabolism sponsored by the Chinese Medical Association. The journal aims to be the "Chinese broadcaster of new knowledge on endocrinology and metabolism worldwide". It reports leading scientific research results and clinical diagnosis and treatment experience in endocrinology and metabolism and related fields, as well as basic theoretical research that has a guiding role in endocrinology and metabolism clinics and is closely integrated with clinics. The journal is a core journal of Chinese science and technology (a statistical source journal of Chinese science and technology papers), and is included in Chinese and foreign statistical source journal databases such as the Chinese Science and Technology Papers and Citation Database, Chemical Abstracts, and Scopus.
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