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Ellis-van Creveld syndrome: report of two cases

✍ Scribed by Sumit Mehndiratta; Amita Tyagi; Veena Devgan


Book ID
107659945
Publisher
SP Children’s Hospital, Zhejiang University School of Medicine
Year
2011
Tongue
English
Weight
240 KB
Volume
7
Category
Article
ISSN
1708-8569

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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