Adams-Oliver Syndrome: Vestigial Tail and Genetics Update

Abstract Adams-Oliver syndrome is a well-recognized autosomal dominant disorder for which mutations in six genes are etiologic, but account for only one-third of the cases. We report a patient with two genetic disorders; Adams-Oliver and Xp22.33 deletion syndromes, as well as a vestigial pseudotail....

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Bibliographic Details
Published in:Archives of plastic surgery 2022, 49(4), , pp.517-522
Main Authors: Zhu, Victor Z., Hansen-Kiss, Emily, Hecht, Jacqueline T., Payne, Phileemon E.
Format: Article
Language:English
Subjects:
Adams-Oliver syndrome
genetics
Pediatric/Craniomaxillofacial/Head & Neck
pseudotail
vestigial tail
성형외과학
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Summary:Abstract Adams-Oliver syndrome is a well-recognized autosomal dominant disorder for which mutations in six genes are etiologic, but account for only one-third of the cases. We report a patient with two genetic disorders; Adams-Oliver and Xp22.33 deletion syndromes, as well as a vestigial pseudotail. The presence of a pseudotail has not previously been reported in either of these genetic conditions. Absence of a molecular etiology underlying Adams-Oliver syndrome confirms that there are additional genetic causes to be identified.
ISSN:2234-6163
2234-6171
DOI:10.1055/s-0042-1751107