P33.12: Prenatal sonographic diagnosis of atelosteogenesis type 1
β Scribed by M. Basbug; M. T. Ozgun; C. Batukan; H. Akgun
- Book ID
- 112226582
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 38 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0960-7692
- DOI
- 10.1002/uog.4818
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Atelosteogenesis type 1 (AO1) is a rare lethal chondrodysplasia characterized by incomplete ossification of cartilage anlagen. Histologically, the cartilage contains irregular clusters that occasionally include giant chondrocytes. Pulmonary hypoplasia is a characteristic finding that has been presum
We describe two additional instances of atelosteogenesis, type III, in a woman and her son. Clinical and radiographic information concerning these individuals allows further definition of this rare skeletal dysplasia. This is the first documentation of survival to adulthood of an individual with thi