Cerebro-Costo-Mandibular syndrome: Case report Serebro-Kosto-Mandibular sendromu
Turkiye Klinikleri Pediatri, cilt.20, sa.3, ss.261-263, 2011 (Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 20 Sayı: 3
- Basım Tarihi: 2011
- Dergi Adı: Turkiye Klinikleri Pediatri
- Derginin Tarandığı İndeksler: Scopus
- Sayfa Sayıları: ss.261-263
- Anahtar Kelimeler: Congenital, Dyspnea, Micrognathism, Retrognathism, Ribs
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
A 4-month-old boy with difficulty in breathing, coughing is admitted to hospital. Rib deformities seen in chest radiography combined with the congenital anomalies such as micrognathia, retrognathia, hypertelorism, low-set ears, pectus excavatum in physical examination lead to the diagnosis of cerebro-costo-mandibular syndrome. Cerebro-costo-mandibular syndrome is a rare congenital syndrome characterized by micrognathia, posterior rib-gap defects and developmental delay. Rib deformities range from complete absence of rib ossification, posterior rib-gap defects to pseudoarthrosis. Death due to severe respiratory failure in the first days or months of life is usual. So upon diagnosis, prompt medical and surgical treatment can be life-saving as the spontaneous reduction in the extension of rib defects can occur by time. Copyright © 2011 by Türkiye Klinikleri.