Aarskog-Scott sendromu
Aarskog sendromu
Kalıtsal- XLR
Fasiyogenital displazi
Erkek çocuklarda bulgular daha belirgin
Gelişme geriliği
Yüz yuvarlakça
Hipertelorizm
Oftalmopleji
Ptozis
Kulak kepçesi anomalileri
Kısa burun
Filtrum uzun
Üst dudak geniş
Alt dudak alt kenarında deri kıvrımı
Üstçene hipoplazisi
Altçene deformasyonu (ön kesim)
Maloklüzyon
Mine displazisi
Hipodonti
Kök anomalileri
Yarık dudak
Yarık damak
Eller/ayaklar geniş
Parmak anomalileri
Eklemlerde gevşeklik
İnguinal herniler
Penis anomalileri
İnmemiş testis
Zeka geriliği
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Orrico A, Galli L, Cavaliere ML, Garavelli L, et al. Phenotypic and molecular characterization of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. European Journal of Human Genetics, 12(1):16-23, 2004
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Orrico A, Galli L, Buoni S, et al. Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). American Journal of Medical Genetics A, 135(1):99-102, 2005
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Pilozzi-Edmonds L, Maher TA, Basran RK, et al. Fraternal twins with Aarskog–Scott syndrome due to maternal germline mosaicism. American Journal of Medical Genetics A, 155:1987–1990, 2011
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Closs LQ, Tovo M, Dias C, et al. Aarskog-Scott Syndrome: A Review and Case Report. International Journal of Clinical Pediatric Dentistry, 5(3):209-212, 2012
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Şıklar Z, Berberoğlu M. Syndromic disorders with short stature. Journal of Clinical Research in Pediatric Endocrinology, 6(1), 1–8, 2014
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Ahmed A, Mufeed A, Ramachamparambathu AK, Hasoon U. Identifying Aarskog Syndrome. Journal of Clinical & Diagnostic Research, 10(12): ZD09-ZD11, 2016