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Atlas of Genetic Diagnosis and Counseling || Ellis-van Creveld Syndrome

✍ Scribed by Chen, Harold


Book ID
121707147
Publisher
Springer US
Year
2012
Weight
500 KB
Category
Article
ISBN
1461410371

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Ellis-van Creveld syndrome (chondroectodermal dysplasia) is a rare autosomal recessive disorder characterized by a narrow thorax with short ribs, short extremities with polydactyly, and heart defects. A woman underwent sonographic examination at 27 weeks' menstrual age to rule out anomalies because