SECKEL SENDROMU: BİR OLGU SUNUMU

Year 2013, Volume: 14 Issue: 3, 35 - 37, 01.12.2013

Salih Coşkun Serkan Kurtgöz Ayşe Tosun Ece Keskin Gökay Bozkurt

Abstract

Seckel sendromu boy kısalığı, mikrosefali, çıkık burun (gaga burun) ve tipik yüz görünümü ile karakterize otozomal resesif kalıtımlı bir hastalıktır (1). Ateş ve emmeme yakınmasıyla pediatri polikliniğine başvuran üç aylık erkek hasta atipik yüz görünümü nedeniyle polikliniğimize yönlendirildi. Fizik muayenesinde, vücut ağırlığı 2570 gram ( < 3 persentil), boyu 50 cm ( < 3 persentil) ve baş çevresi 29 cm ( < 3 persentil) idi, genel durumu iyi, bilinci açık, malnutre görünümde idi. Olguda, orantılı boy kısalığı, mikrosefali, ön fontanel küçüklüğü, yassı (geriye düşük) alın, mikrognati, düşük ve malforme kulaklar, göreceli büyük göz ve kulaklar, çıkık gaga burun, yüksek damak ve üçgen dar yüz görünümü mevcuttu. Kemik surveyde bilateral 12. kosta kemikleri yoktu. Olguya klinik olarak Seckel sendromu tanısı konuldu. Bu olgu ile mikrosefali ve tipik yüz görünümü olan hastalarda, Seckel sendromu olabileceğini hatırlatmak istedik

Keywords

Mikrosefali, mental retardasyon, mikrognati

Seckel Syndrome: A Case Report

Abstract

Seckel syndrome is an autosomal recessive disease characterized by short stature, microcephaly, prominent nose (beaked nose), and typical facial appearance (1). Three-month-old male patient was brought to pediatrics clinic with the complaints of fever and poor sucking, and referred to us because of atypical facial appearance. Physical examination revealed that he had a good general condition, was conscious, and had the appearance of malnutrition. Body weight was 2570 gr ( < 3rd percentile), length was 50 cm ( < 3rd percentile) and head circumference was 29 cm ( < 3rd percentile). The patient had proportionate short stature, microcephaly, the small anterior fontanelle and sloping forehead, micrognathia, low-set and malformed ears, relatively large eyes and ears, prominent nose (beaked nose), high palate, narrow triangular facial appearance. Bilateral 12th ribs were not seen with bone survey. The patient was diagnosed clinically with Seckel syndrome. We want to remind that this case, and therefore patients with microcephaly and typical facial appearance may have Seckel syndrome.

Keywords

Microcephaly, mental retardation, micrognathia

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