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).

Osteochondroma

A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone.

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).