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Prominent/full/wide cheeks

MedGen UID:
903189
•Concept ID:
C4231124
•
Finding

Recent clinical studies

Etiology

Lateral facial contouring via a single preauricular incision.
Rhee DY, Kim SH, Shin DH, Uhm KI, Song WC, Koh KS, Choi HG
J Plast Reconstr Aesthet Surg 2012 Aug;65(8):e205-12. Epub 2012 Apr 9 doi: 10.1016/j.bjps.2012.03.018. PMID: 22495013
Variability of the cranial and dental phenotype in Williams syndrome.
Axelsson S
Swed Dent J Suppl 2005;(170):3-67. PMID: 15762376
Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent-1 segregants.
Kozma C, Slavotinek AM, Meck JM
Am J Med Genet A 2004 Jan 15;124A(2):118-28. doi: 10.1002/ajmg.a.20332. PMID: 14699608

Diagnosis

Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient.
Tripon F, Bogliș A, Micheu C, Streață I, Bănescu C
Genes (Basel) 2020 May 28;11(6) doi: 10.3390/genes11060596. PMID: 32481733Free PMC Article
The face in congenital melanocytic nevus syndrome.
Kinsler V, Shaw AC, Merks JH, Hennekam RC
Am J Med Genet A 2012 May;158A(5):1014-9. Epub 2012 Mar 21 doi: 10.1002/ajmg.a.34217. PMID: 22438093
Frank-Ter Haar Syndrome.
Saeed M, Shair QA, Saleem SM
J Coll Physicians Surg Pak 2011 Apr;21(4):252-3. PMID: 21453629
Further delineation of Frank-ter Haar syndrome.
Maas SM, Kayserili H, Lam J, Apak MY, Hennekam RC
Am J Med Genet A 2004 Dec 1;131(2):127-33. doi: 10.1002/ajmg.a.30244. PMID: 15523657
Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus.
Kotzot D, Bernasconi F, Brecevic L, Robinson WP, Kiss P, Kosztolanyi G, Lurie IW, Superti-Furga A, Schinzel A
Eur J Pediatr 1995 Jun;154(6):477-82. doi: 10.1007/BF02029360. PMID: 7545578

Prognosis

Frank-ter Haar syndrome with unusual clinical features.
Dundar M, Saatci C, Tasdemir S, Akcakus M, Caglayan AO, Ozkul Y
Eur J Med Genet 2009 Jul-Aug;52(4):247-9. Epub 2009 Mar 19 doi: 10.1016/j.ejmg.2009.03.005. PMID: 19303467
Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent-1 segregants.
Kozma C, Slavotinek AM, Meck JM
Am J Med Genet A 2004 Jan 15;124A(2):118-28. doi: 10.1002/ajmg.a.20332. PMID: 14699608

Clinical prediction guides

Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient.
Tripon F, Bogliș A, Micheu C, Streață I, Bănescu C
Genes (Basel) 2020 May 28;11(6) doi: 10.3390/genes11060596. PMID: 32481733Free PMC Article
The face in congenital melanocytic nevus syndrome.
Kinsler V, Shaw AC, Merks JH, Hennekam RC
Am J Med Genet A 2012 May;158A(5):1014-9. Epub 2012 Mar 21 doi: 10.1002/ajmg.a.34217. PMID: 22438093

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