Apert syndrome: Case report Apert sendromu: Olgu sunumu
Medical Journal of Bakirkoy, cilt.9, sa.2, ss.81-84, 2013 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 9 Sayı: 2
- Basım Tarihi: 2013
- Doi Numarası: 10.5350/btdmjb201309209
- Dergi Adı: Medical Journal of Bakirkoy
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.81-84
- Anahtar Kelimeler: Apert syndrome, cranialsinositosis, syndactily
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Apert syndrome is a rare autosomal dominant genetic disorder characterized by irregular craniosynostosis, symmetric syndactylia of hands and feet, mid-line hypoplasia, and coronal synostosis, hypertelorism, anomalies of central nervous system, heart and kidneys. In this paper, we reported a 10 day-old new born who was hospitalized because of respiratory distress. He was diagnosed as Apert syndrome with the typical features of coronal synostosis, hyperteleorism, symmetric syndactyly of hands and feet and corpus callosum hypoplasia.