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).

Multiple exostoses

Presence of more than one exostosis. 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: 5

                       


（表示件数）
PMID (PMCID)
25653495
(4310950)
 MALE Child
The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.
Sohn YB, Yim SY, Cho EH, Kim OH.
J Korean Med Sci. 2015;30(2):214-7.
The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.
24376213
 FEMALE Young Adult
Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype.
Ferrarini A, Gaillard M, Guerry F, Ramelli G, Heidi F, Keddache CV, Wieland I, Beckmann JS, Jaquemont S, Martinet D.
Am J Med Genet A. 2014;164A(2):346-52.
Deletions in this region have been described in patients with Potocki-Shaffer syndrome (PSS), characterized by biparietal foramina, multiple exostoses, and intellectual disability.
22770980
 MIXED_SAMPLE Infant, Newborn
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.
Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF.
Am J Hum Genet. 2012;91(1):56-72.
Potocki-Shaffer syndrome (PSS) is a contiguous gene disorder due to the interstitial deletion of band p11.2 of chromosome 11 and is characterized by multiple exostoses, parietal foramina, intellectual disability (ID), and craniofacial anomalies (CFAs).
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.
The Potocki-Schaffer syndrome or proximal 11p deletion syndrome (previously DEFECT11 syndrome) is a contiguous gene syndrome associated with deletions in 11p11.2, principal features of which are multiple exostoses and enlarged parietal foramina.
12457403
 MALE
Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion.
Wuyts W, Roland D, Ludecke HJ, Wauters J, Foulon M, Van Hul W, Van Maldergem L.
Am J Med Genet. 2002;113(4):326-32.
Multiple exostoses represent a genetically heterogeneous disorder that may occur isolated or as part of a complex contiguous gene syndrome such as Langer-Giedion syndrome on chromosome 8 and the proximal 11p deletion syndrome on chromosome 11.