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Marshall-Smith sendromu

Kalıtsal - AD

Malan sendromunun genetik temeline kardeş (allelik) bir sendrom

Hızlı kemik gelişimi

Alın bombesi yüksek

Hipertrikoz (gür saçlar ve kaşlar)

Patlak gözler

Mavi sklera

Optik atrofi

Basık burun

İşitme sorunları

Yüz orta bölüm hipoplazisi

Üstçenede mikrognati/retrognati

Dentisyonda aksamalar

Gingival hiperplazi

Glossoptozis

Kalpte atrial septal defekt

Toraks anomalileri

Solunum sistemi sorunları (aspirasyonu pnömonisi)

Kronik solunum yetmezliği bulguları

Eller-ayaklar iri

Vertebra anomalileri

Skolyoz

Sinir sistemi anomalileri

Psikomotor gerilik

Wilms tümörü riski

İlk yaşlarda ölüm

Bkz Aşırı büyüme (overgrowth) sendromları, Malan sendromu, Sotos sendromu

 

  • Marshall RE, Graham CB, Scott CR, Smith DW. Syndrome of accelerated skeletal maturation and relative failure to thrive: a newly recognized clinical growth disorder. Journal of Pediatrics, 78(1): 95–101, 1971

  • Williams DK, Carlton DR, Green SH, et al. Marshall-Smith syndrome: the expanding phenotype. Journal of Medical Genetics, 34(10):842-845, 1997

  • 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

  • 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

  • Adam MP, Hennekam RC, Keppen LD, et al. Marshall–Smith syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. American Journal of Medical Genetics A, 137(2):117-124, 2005

  • Shaw AC, van Balkom IDC, Bauer M, et al. Phenotype and natural history in Marshall-Smith syndrome. American Journal of Medical Genetics A, 152A: 2714-2726, 2010

  • Schanze D, Neubauer D, Cormier-Daire V, et al. Deletions in the 3′ part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome. Human Mutation, 35(9):1092–1100, 2014

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