n South African Medical Journal - Thanatophoric dysplasia : a review : how human genetics came to SA
|Article Title||Thanatophoric dysplasia : a review : how human genetics came to SA|
|© Publisher:||Health and Medical Publishing Group (HMPG)|
|Journal||South African Medical Journal|
|Affiliations||1 University of Cape Town and 2 Groote Schuur Hospital|
|Publication Date||Jun 2016|
|Pages||50 - 53|
Thanatophoric dysplasia is a well-known cause of potentially lethal short-limbed dwarfism in the newborn. The diagnosis is usually made by the recognition of characteristic radiological changes and confirmed at autopsy by demonstration of specific morphological and histological changes in the brain. This review is based upon the author's personal experience and archived data of 19 cases and concerns the clinical and radiographic manifestations, autopsy findings, molecular pathogenesis and the approach to antenatal diagnosis.
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