AI Article Synopsis
- Desbuquois dysplasia is a severe genetic disorder that leads to serious physical abnormalities, including short stature and joint issues, starting before birth.
- The condition is identified by specific physical and radiographic characteristics, including facial differences and joint dislocations.
- The study highlights a case where whole exome sequencing enabled an early prenatal diagnosis, even before typical ultrasound signs appeared.
Article 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.
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| http://dx.doi.org/10.1080/14767058.2019.1657084 | DOI Listing |
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