1p 36 delesyon sendromu en sık rastlanılan submikroskopik delesyon sendromlarından bir tanesidir. 1p 36 delesyon sendromlu hastalar gelişimsel gecikme/zihinsel yetersizlik ve mikrobrakisefali, hipo/hipertelorizm, düz kaşlar, derin gözler, düz burun köprüsü, orta yüz hipoplazisi, düşük kulak, büyük geç kapanmış ön fontaneller gibi kendine özgü kraniyofasiyal görünüm gibi değişken derecelerde ortak klinik özelliklere sahiptirler. Bu yazımızda birbirinden farklı prezantasyon gösteren 1p 36 delesyon sendrom tanısı konulan iki olguyu sunmak istedik.
1p 36 is one of the submicroscopic division syndrome found. Patients with 1p 36 delusion syndrome have common clinical characteristics in varied degrees, such as developmental delay/mental insufficiency and microbrakisephaly, hypo/hypertelorism, straight eyelids, deep eyes, straight nose bridges, middle face hypoplasy, low ear, big late closed front fountains. In this article we wanted to present two phenomena diagnosed with 1p 36 divisions syndrome that show different presentations.
1p 36 deletion syndrome is one of the most common submicroscopic deletion syndromes. Patients with 1p 36 deletion syndrome have varying degrees of common clinical features such as the unique craniofacial features developmental delay/mental disability and microbraccephaly, hypo/hypertelorism, smooth eyebrows, deep eyes, flat nose bridge, midface hypoplasia, low ears, large late closed anterior fontanelles, In this article, we present two cases diagnosed as 1p 36 deletion syndrome with different presentation.
Alan : Sağlık Bilimleri
Dergi Türü : Uluslararası
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