Aarskog-Scott 综合征1 例报告及文献复习

doi:10.3969/j.issn.2095-5340.2023.03.008

发育医学电子杂志

2023, Vol. 11

Issue (3): 205-207 DOI: 10.3969/j.issn.2095-5340.2023.03.008

临床遗传病例报告

Aarskog-Scott 综合征1 例报告及文献复习

黄雪娇　黎芳　麻宏伟

中国医科大学附属盛京医院　发育儿科，辽宁　沈阳 110004

A case report of Aarskog-Scott syndrome and literature review

Huang Xuejiao, Li Fang, Ma Hongwei

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摘要　患儿，男性，年龄6岁1个月，因“生长迟缓6 年”就诊于中国医科大学附属盛京医院发育儿科。患儿为足月剖宫产娩出，出生体质量3 100 g，身长50 cm，生后无窒息，自幼生长缓慢，每年身高增长4~6 cm，平时食欲较差，运动发育及智力发育与同龄儿相似。3岁时于当地医院行房间隔修补术，5岁时发现腹股沟疝及隐睾，于中国医科大学附属盛京医院小儿外科手术治疗。否认近亲结婚，否认遗传病家族史。父亲身高171 cm，母亲身高158 cm，遗传平均身高171 cm。

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关键词: Aarskog-Scott综合征生长激素治疗 FGD1基因矮小遗传变异

收稿日期: 2022-08-02 出版日期: 2023-05-31 发布日期: 2023-05-31 期的出版日期: 2023-05-31

通讯作者: 麻宏伟 E-mail: mahongwei1960@163.com

引用本文:

黄雪娇　黎芳　麻宏伟. Aarskog-Scott 综合征1 例报告及文献复习[J]. 发育医学电子杂志, 2023, 11(3): 205-207.
Huang Xuejiao, Li Fang, Ma Hongwei. A case report of Aarskog-Scott syndrome and literature review. Journal of Developmental Medicine(Electronic Version), 2023, 11(3): 205-207.

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http://www.fyyxzz.com/CN/10.3969/j.issn.2095-5340.2023.03.008 或 http://www.fyyxzz.com/CN/Y2023/V11/I3/205

[1]	王克成　唐海俊　沈莉. 不同病因矮小症患儿血清生长激素释放肽、胰岛素样生长因子-1 水平变化及其临床意义[J]. 发育医学电子杂志, 2024, 12(3): 179-186.

[1]	Society of Neonatologist, Chinese Medical Doctor Association. Consensus recommendations on the prevention and early management of respiratory distress syndrome in preterm infants[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 129 -131 .
[2]	Professional Committee of Respiratory, Society of Neonatologist, Chinese Medical Doctor Association. Clinical application recommendations for heated humidified high flow nasal cannula[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 132 -135 .
[3]	YAN Jun, ZHU Xing-wang, SHI Yuan. Application progress of noninvasive ventilate technique for premature infants[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 136 -140 .
[4]	GU Min-fang, YANG Chuan-zhong. Progress of intrapartum resuscitation for premature infants[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 141 -145 .
[5]	LIU Shu-hua, SHEN Yue-bo, LIU Cui-qing, MA Li. The efficacy of pulmonary surfactant for pulmonary function in premature tension pneumothorax[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 146 -151 .
[6]	GAO Xiao-hui, MAO Jian. Clinical features of non-oliguric hyperkalemia in extremely low birth weight infants[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 152 -158 .
[7]	XIA Yao-fang, YANG Juan , TIAN Bao-li, et al. Value of amplitude-integrated electroencephalography in monitoring acute period of neonatal bilirubin encephalopathy and prognostic assessment[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 159 -163 .
[8]	WANG Li-rong, SUN Xiao-yan, ZHU Ruo-xin, et al. Epidemiological investigation and analysis of women aged 40-55 years old with osteoporosis in Gansu province[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 164 -167 .
[9]	CHEN Ru-yue, SHEN Yun-yan, CHEN Qing , et al. Five cases about Henoch-Schönlein purpura complicated with central nervous system injury in children and literatures review[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 168 -171 .
[10]	ZHANG Ai-run, FANG Xiao-yi. Lung function testing of bronchopulmonary dysplasia for infants and children[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 172 -176 .

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