S

 

Simpson-Golabi-Behmel sendromu (tip 1)

Kalıtsal - XLR

2 fenotip 

Tip 1'de maksillofasiyal bulgular belirgin

Doğumda uzun boy+yüksek kilo (makrosomi)

Makrosefali

Hipertelorizm

Aşağı çekik gözkapakları

Glabella kabarık ve aşırı kıllı

Kısa-yayvan burun sırtı

Kaba yüz yapısı

Ağız açıklığı büyük

Makroglossi

Orta çizgide alt dudakta oluk

Dilde orta çizgide oluk

Yarık dudak

Yarık damak

Çukur damak

Maloklüzyon

Uvula bifida

Bebeklerde altçene mikrognatisi

Erişkinlikte makrognati

Kalpte ventrikül septum defektleri

Kardiyomyopati

Organomegali (karaciğer, böbrek, dalak)

GİS anomalileri

Ürogenital anomaliler (inmemiş testis, nefromegali, renal displazi)

Süpernümerer meme uçları

Kosta ve vertebra anomalileri

El parmak anomalileri

Beyinde corpus callosum agenezi/hipoplazisi

Hidrosefalus

Tümör riski (Wilms tümörü, hepatoblastoma)

 

  • Hughes-Benzie RM, Hunter AG, Allanson JE, Mackenzie AE. Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21. American Journal of Medical Genetics, 43(1-2):428–435, 1992

  • Hughes-Benzie RM, Pilia G, Xuan JY, et al. Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families. American Journal of Medical Genetics, 66:227–234, 1996

  • Lapunzina P, Badia I, Galoppo C, et al. A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma. Journal of Medical Genetics, 35(2):153–156, 1998

  • Neri G, Gurrieri F, Zanni G, Lin A. Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome. American Journal of Medical Genetics, 79(4):279–283, 1998

  • Cohen MM Jr. Overgrowth syndromes: an update. Advances in Pediatrics, 46:441–491, 1999

  • Lin AE, Neri G, Hughes-Benzie R, Weksberg R. Cardiac anomalies in the Simpson-Golabi-Behmel syndrome. American Journal of Medical Genetics, 83(5):378–38, 1999

  • Li M, Shuman C, Fei YL, et al. GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome. American Journal of Medical Genetics, 102:161–168, 2001

  • Cohen MM, Neri G, Weksberg R. Overgrowth Syndromes. Oxford University Press, New York, 2002

  • Cohen MM Jr. Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 117C(1):49–56, 2003

  • Lapunzina P. Risk of tumorigenesis in overgrowth syndromes: a comprehensive review. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 137C(1):53–71, 2005

  • Pénisson-Besnier I, Lebouvier T, Moizard MP, et al. Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome. American Journal of Medical Genetics, Part A, 146A(4):464–467, 2008

  • Cottereau E, Mortemousque I, Moizard MP, et al. Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.  American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 163C(2):92–105, 2013

  • Edmondson AC, Kalish JM. Overgrowth Syndromes. Journal of Pediatric Genetics, 4:136–143, 2015