Ulnar-Mammary sendromu

Kalıtsal - AD

Gelişme geriliği

Obesite

Kaşlar seyrek

Hipodonti

Üstçene kaninleri ektopik

Wolff-Parkinson-White aritmisi

Subglottic stenosis

Skapula ve klavikula hipoplazisi

Memeler ve meme uçları hipoplastik

İnguinal herni

Anal atrezi/stenoz

Pilor stenozu

Üst ekstremite kemikleri agenezi/hipoplazisi

Polidaktili

Ayak parmakları kısa

Sekonder cinsel nitelikler yetersiz

Hipofiz ön lob hipoplazisi

Hipofiz arka lob ektopik

Pubertede gecikme

 

• Bamshad M, Root S, Carey JC. Clinical analysis of a large kindred with the Pallister ulnar-mammary syndrome. American Journal of Medical Genetics, 65: 325-331, 1996

• Wollnik B, Kayserili H, Uyguner O, et al. Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family. Annals of Genetics, 45: 213-217, 2002

• Linden H, Williams R, King J, et al. Ulnar mammary syndrome and TBX3: expanding the phenotype. American Journal of Medical Genetics, 149A: 2809-2812, 2009

• Tanteles GA, Nicolaou N, Syrimis A, et al. Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome. Clinical Dysmorphology, 26: 61-65, 2017

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