S

 

Sotos sendromu

Kalıtsal - AD

3 fenotip

Doğum kilosu ve boyu fazla (makrosomi)

4 yaşına dek hızlı gelişme

Dolikosefali/makrosefali (makrodolikosefali)

Natal evrede hipotoni

Alın bombesi yüksek/geniş

Frontoparietal saç çizgisi yukarıda

Fronto-temporal bölgede saçlar seyrek

Hipertelorizm

Aşağı çekik gözkapakları

Nistagmus

Strabismus

Otitis media

İşitme sorunları

İnce-uzun yüz yapısı

Yanaklar uzun-kırmızı

Alveol kretleri kalın (üstçene lateral)

Çukur damak

Prognatizm (altçene dar-uzun)

Dişlerin erken sürmesi

Hipodonti (premolar eksikliği)

Kardiyovasküler anomaliler

Üriner sistem anomalileri

Hızlı ve ileri kemik yaşı

Ekstremite iriliği

Eller-ayaklar büyük

Skolyoz

Beyin anomalileri (geniş ventriküller, corpus callosum agenezi)

Serebral atrofi

Öğrenme güçlüğü

Geç yürüme-konuşma

Refleksler abartılı

Zeka geriliği

Epilepsi

Tümör riski (akut lenfositik lösemi, Wilms tümörü, nöroblastoma, teratoma, gangliyonöroma, hepatosellüler ca, lenfoma, akciğer ca)

Bkz Aşırı büyüme (overgrowth) sendromları  

 

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

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

  • Kurotaki N, Imaizumi K, Harad, N, et al. Haploinsufficiency of NSD1 causes Sotos syndrome. Nature Genet. 30: 365-366, 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

  • Kurotaki N, Harada N, Shimokawa O, et al. Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. Human Mutation, 22: 378-387, 2003

  • Tatton-Brown K, Rahman N. Clinical features of NSD1-positive Sotos syndrome. Clinical Dysmorphology, 13(4):199-204, 2004

  • Kurotaki N, Stankiewicz P, Wakui K, et al. Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats. Human Molecular Genetics, 14: 535-542, 2005

  • Tatton-Brown K, Douglas J, Coleman K, et al. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. American Journal of Human Genetics, 77:193–204, 2005

  • Cecconi M, Forzano F, Milani D, et al. Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. American Journal of Medical Genetics A, 134:247–253, 2005

  • 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

  • Berdasco M, Ropero S, Setien F, et al. Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma. Proceedings of the National Academy of Science of the USA, 106(51):21830–21835, 2009

  • Tatton-Brown K, Rahman N. The NSD1 and EZH2 overgrowth genes, similarities and differences. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 163C(2):86–91, 2013

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