Aarskog Sendromu: Olgu Sunumu

Öz

Aarskog sendromu boy kısalığı, tipik yüz ve parmak özellikler ve atkı (shawl) scrotum bulguları ile seyreden nadir ve kalıtsal bir hastalıktır. Burada Aarskog sendromunun özelliklerini gösteren; boy kısalığı, dismorfik yüz özellikleri, brakidaktili ve konjenital kalp hastalığı (KKH) bulguları olan 14.5 yaşındaki bir kız çocuğu ve klinik benzerlik gösteren annesi, hastalığın kadınlarda nadiren bulgu vermesi nedeniyle sunulmuştur.

Anahtar Kelimeler

• Kısa boy, hipertelorizm, konjenital kalp hastalığı

AARSKOG SYNDROME: A CASE REPORT

Öz

Aarskog syndrome is a rare and inherited disease associated with short stature, typical facial and digital features and shawl scrotum. Here, we report a female 14.5 year-old Aarskog syndrome case, with short stature, dysmorphic facial features, brachydactyly and congenital heart disease (CHD).She and her mother with similar clinical features are presented as females with clinical features are very rare

Anahtar Kelimeler

• Short stature, hypertelorism, congenital heart disease.

Kaynakça

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