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
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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
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Williams DK, Carlton DR, Green SH, et al. Marshall-Smith syndrome: the expanding phenotype. Journal of Medical Genetics, 34(10):842-845, 1997
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Cohen MM Jr. Overgrowth syndromes: an update. Advances in Pediatrics, 46:441–491, 1999
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Cohen MM, Neri G, Weksberg R. Overgrowth Syndromes. Oxford University Press, New York, 2002
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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
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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
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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
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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