Potocki-Shaffer syndrome

Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

Exostoses

An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.

合計: 1

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PMID (PMCID)
17290930	MALE	Adult
	Proximal chromosome 11p contiguous gene deletion syndrome phenotype: case report and review of the literature.
	Romeike BF, Wuyts W. Clin Neuropathol. 2007;26(1):1-11.
	The proximal chromosome 11p contiguous gene deletion syndrome (P11pDS), also known as Potocki-Shaffer syndrome (PSS) or DEFECT 11 (OMIM 601224), is a disorder associated with foramina parietalia permagna and multiple osteochondroma (exostoses).