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Common Congenital Syndromes 

Common Congenital Syndromes
Chapter:
Common Congenital Syndromes
Author(s):

Dorothy L. Gilbertson-Dahdal

DOI:
10.1093/med/9780190938178.003.0115
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date: 28 January 2022

Chapter 114 focuses on several of the more commonly seen types of skeletal dysplasia, such as achondroplasia, Hurler syndrome, osteogenesis imperfecta, and thanatophoric dwarfism. Skeletal dysplasia results from genetic mutations that cause abnormalities in bone or cartilage. There are more than 450 skeletal dysplasias and most are rare. Many dysplasias are detected on prenatal US, and family history, physical examination, and molecular and genetic testing are also used in diagnosis. A skeletal survey is recommended including skull AP and lateral; thoracolumbar spine AP and lateral; and AP views of the chest, pelvis, upper limbs, and lower limbs. Treatment options and management vary.

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