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Teebi hipertelorizm sendromu

Kalıtsal - AD

Boy kısa

Kraniyosinotozis

Alın geniş

Hipertelorizm

Ptozis

Kaşlar belirgin

Uzun filtrum

Kısa-basık burun

Neonatal dişler

Mine defektleri

Kalpte septum defektleri

Pulmoner hipoplazi

Omfalosel

Uterus bicornuate

Lomber vertebra anomalileri

Eller küçük

Plasentada 2 damar

  • Han X-D, Cox V, Slavotinek A. Atrioventricular block and wiry hair in Teebi hypertelorism syndrome. American Journal of Medical Genetics, 140A: 1960-1964, 2006

  • Hoffman JD, Irons M, Schwartz C, et al. A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes. American Journal of Medical Genetics, 143A: 1282-1286, 2007

  • Koenig, R. Teebi hypertelorism syndrome. Clinical Dysmorphology, 12: 187-189, 2003

  • Bhoj EJ, Li D, Harr MH, et al. Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome. American Journal of Medical Genetics, 167A: 2497-2502, 2015