Published June 1, 2019
| Version v1
Journal article
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Osteochondrodysplasia: A Heritable Disorder
Authors/Creators
- 1. Department of Radiodiagnosis, People's College of Medical Sciences & Research Centre, Bhopal
Description
nd We report a case of a 25 years old pregnant lady in her 2 pregnancy reported for prenatal Ultrasonography, which
revealed an estimated fetal weight of 428 grams alongwith shortening of the long bones, short neck, cloverleaf skull
deformity and thoraco abdominal disproportion. The case was diagnosed as Osteochondrodysplasia.
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References
- 1. Krakow D1, Alanay Y, Rimoin LP, Lin V, Wilcox WR,
- Lachman RS, et al. Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis. Am J Med Genet A. 2008 Aug 1;146A(15):1917-24. 2. Krakow D, Lachman RS, Rimoin DL. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med. 2009;11(2):127–133. 3. Levenson D. New test could make carrier screening more accessible. Ameri J Med Genet Part A. 2010;152(4). 4. Henig RM. When does life belong to the living. Sci Am. 2010;303(6):50-4. 5. Offiah AC. Skeletal dysplasias: An overview. Endocr Dev. 2015;28:259–76.