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).

Obesity

Accumulation of substantial excess body fat.


合計: 1

                       


（表示件数）
PMID (PMCID)
15702131
 FEMALE Adult
Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion.
Bremond-Gignac D, Crolla JA, Copin H, Guichet A, Bonneau D, Taine L, Lacombe D, Baumann C, Benzacken B, Verloes A.
Eur J Hum Genet. 2005;13(4):409-13.
We report a patient with combined WAGR and Potocki-Shaffer syndromes, and obesity.