SHORT sendromu
Kalıtsal - AD
İntrauterin gelişme azlığı
Gelişme geriliği
Alın bombesi yüksek
Gözler çukurda
Rieger anomalisi
Katarakt
Glokom
Arkaya dönük kepçe kulaklar
İşitme sorunları
Üçgen biçiminde yüz (alt bölümü küçük)
Maksilla hipoplazisi (mikrognati)
Mikrognati
Dişlerde sürme aksamaları
Hipodonti
Maloklüzyon
Yerel lipodistrofi bulguları
İnsülin direnci
Zamanla diabetes mellitus
Gözde ön kamera, iris ve kornea anomalileri (Axenfeld-Rieger anomalisi)
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Brodsky MC, Whiteside-Michel J, Merin LM. Rieger anomaly and congenital glaucoma in the SHORT syndrome. Archives of Ophthalmology, 114:1146–1147, 1996
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Koenig R, Brendel L, Fuchs S. SHORT syndrome. Clinical Dysmorphology, 3;12:45–49, 2003
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Karadeniz NN, Kocak-Midillioglu I, Erdogan D, Bökesoy I. Is SHORT syndrome another phenotypic variation of PITX2? American Journal of Medical Genetics A, 130A:406–409, 2004
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Dyment DA, Smith AC, Alcantara D, et al. Mutations in PIK3R1 cause SHORT syndrome. American Journal of Human Genetics, 93:158–166, 2013
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Schroeder C, Riess A, Bonin M, et al. PIK3R1 mutations in SHORT syndrome. Clinical Genetics, 86(3):292-294, 2014
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Avila M, Dyment D A, Sagen JV, et al. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management. Clinical Genetics, 89: 501-506, 2016