Two case with different presentation; 1p 36 deletion syndrome

Year 2020, , 128 - 131, 23.04.2020

Hilal Aydın , İbrahim Hakan Bucak , Mehmet Geyik , Haydar Bağış

https://doi.org/10.30569/adiyamansaglik.641603

Abstract

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.

Keywords

Child, Mental retardation, Seizure, 1p 36 deletion syndrome

Farklı prezentasyon gösteren iki vaka; 1p 36 delesyon sendromu

Abstract

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. 

Keywords

Çocuk, Mental retardasyon, Nöbet, 1p 36 delesyon sendromu

References

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