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

 

• 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

• 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

• 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

• 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

• Şıklar Z, Berberoğlu M. Syndromic disorders with short stature. Journal of Clinical Research in Pediatric Endocrinology, 6(1), 1–8, 2014

• Ahmed A, Mufeed A, Ramachamparambathu AK, Hasoon U. Identifying Aarskog Syndrome. Journal of Clinical & Diagnostic Research, 10(12): ZD09-ZD11, 2016

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