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

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

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.

Original language	English
Pages (from-to)	838-840
Number of pages	3
Journal	Journal of Clinical Ultrasound
Volume	49
Issue number	8
DOIs	https://doi.org/10.1002/jcu.23020
State	Published - Oct 2021
Externally published	Yes

Keywords

prenatal diagnosis
sonography
tooth germ
X-linked hypohidrotic ectodermal dysplasia

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10.1002/jcu.23020

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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.",

keywords = "prenatal diagnosis, sonography, tooth germ, X-linked hypohidrotic ectodermal dysplasia",

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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year = "2021",

month = oct,

doi = "10.1002/jcu.23020",

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pages = "838--840",

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TY - JOUR

T1 - Prenatal sonographic diagnosis of X-linked hypohidrotic ectodermal dysplasia

T2 - An unusual case

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

U2 - 10.1002/jcu.23020

DO - 10.1002/jcu.23020

M3 - 文章

C2 - 33991347

AN - SCOPUS:85105915866

SN - 0091-2751

VL - 49

SP - 838

EP - 840

JO - Journal of Clinical Ultrasound

JF - Journal of Clinical Ultrasound

IS - 8

ER -

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

Abstract

Keywords

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