Prenatal sonographic diagnosis of X-linked hypohidrotic ectodermal dysplasia: An unusual case

Tian gang Li; Bin Ma; Hong xia Tie; Qing hua Zhang; Sheng ju Hao; Chong li Guan

doi:10.1002/jcu.23020

Prenatal sonographic diagnosis of X-linked hypohidrotic ectodermal dysplasia: An unusual case

Tian gang Li
, Bin Ma
, Hong xia Tie
, Qing hua Zhang
, Sheng ju Hao
, Chong li Guan

Gansu Provincial Maternity and Child-care Hospital

科研成果: 期刊稿件 › 文章 › 同行评审

5 引用（Scopus）

摘要

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.

源语言	英语
页（从-至）	838-840
页数	3
期刊	Journal of Clinical Ultrasound
卷	49
期	8
DOI	https://doi.org/10.1002/jcu.23020
出版状态	已出版 - 10月 2021
已对外发布	是

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title = "Prenatal sonographic diagnosis of X-linked hypohidrotic ectodermal dysplasia: An unusual case",

abstract = "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.",

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author = "Li, \{Tian gang\} and Bin Ma and Tie, \{Hong xia\} and Zhang, \{Qing hua\} and Hao, \{Sheng ju\} and Guan, \{Chong li\}",

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AU - Li, Tian gang

AU - Ma, Bin

AU - Tie, Hong xia

AU - Zhang, Qing hua

AU - Hao, Sheng ju

AU - Guan, Chong li

PY - 2021/10

Y1 - 2021/10

N2 - 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.

AB - 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.

KW - prenatal diagnosis

KW - sonography

KW - tooth germ

KW - X-linked hypohidrotic ectodermal dysplasia

UR - https://www.scopus.com/pages/publications/85105915866

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Prenatal sonographic diagnosis of X-linked hypohidrotic ectodermal dysplasia: An unusual case

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