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).

Autistic behavior

Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.

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PMID (PMCID)
20140962	MIXED_SAMPLE	Infant
	Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management.
	Swarr DT, Bloom D, Lewis RA, Elenberg E, Friedman EM, Glotzbach C, Wissman SD, Shaffer LG, Potocki L. Am J Med Genet A. 2010;152A(3):565-72.
	We also identify for the first time an association of Potocki-Shaffer syndrome with sensorineural hearing loss and autistic behaviors.