학술논문
Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs.
Document Type
Journal Article
Author
Source
Subject
*ULTRASONIC imaging
*PRENATAL diagnosis
*DYSPLASIA
*JOINT hypermobility
*SHORT stature
*METAPLASTIC ossification
*CRANIOFACIAL abnormalities
*MENTAL health surveys
*POLYDACTYLY
*DWARFISM
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Language
ISSN
1476-7058
Abstract
Desbuquois dysplasia is a very severe and sometimes lethal form of osteochondrodysplasia characterized by prenatal onset of severe micromelic short stature, joint laxity with multiple joint dislocations, specific radiographic features, and facial dysmorphism. Here, we report a case for which whole exome sequencing allowed early prenatal diagnosis of Desbuquois dysplasia before the detection of characteristic ultrasound signs of the disease. [ABSTRACT FROM AUTHOR]