Open AccessExperience of Mowat–Wilson syndrome prenatal diagnosis for a Chinese family
Author(s) -
Jiang Qian,
Zhang Xiaoxiao,
Ma Yinan,
Li Qi,
Zheng Chunhua,
Yan Yuchun,
Zhang Zhen,
Xiao Ping,
Su Lin,
Cheng Wei,
Pan Hong,
Li Long
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.741
Subject(s) - medicine , proband , prenatal diagnosis , genetic counseling , prenatal ultrasound , genetic disorder , pediatrics , chinese family , congenital disorder , mainland china , mutation , genetics , pathology , radiology , pregnancy , china , fetus , gene , disease , biology , law , political science
Key Clinical Message Mowat–Wilson syndrome ( MWS ) is a complex developmental disorder. We report the first prenatal diagnosis provided for a family in mainland China after identifying the causal mutation for the proband. Special focus on MWS ‐related organs during prenatal ultrasound scan is described which is extremely important for genetic counseling of parents.