产前超声诊断 X 连锁性少汗性外胚层发育不良：不常见病例。
Prenatal sonographic diagnosis of X-linked hypohidrotic ectodermal dysplasia: An unusual case.
机构信息
Department of Ultrasound Diagnosis, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, Gansu Province, China.
Department of Medical Genetics Center, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, Gansu Province, China.
出版信息
J Clin Ultrasound. 2021 Oct;49(8):838-840. doi: 10.1002/jcu.23020. Epub 2021 May 15.
X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare congenital genetic disorder caused by mutations in the ectodysplasin A gene, resulting in dysplasia or complete absence of teeth, hair, and sweat glands. XLHED is rarely diagnosed prenatally. We describe a case of XLHED diagnosed with prenatal sonography and umbilical cord blood gene testing.
X 连锁性少汗型外胚层发育不良（XLHED）是一种罕见的先天性遗传疾病，由外胚层发育不良 A 基因的突变引起，导致牙齿、头发和汗腺发育不良或完全缺失。XLHED 很少在产前被诊断出来。我们描述了一例通过产前超声和脐带血基因检测诊断的 XLHED 病例。
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