A case with craniofrontonasal dysplasia Kraniofrontonazal displazi
SENDROM, cilt.17, sa.5, ss.105-106, 2005 (Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 17 Sayı: 5
- Basım Tarihi: 2005
- Dergi Adı: SENDROM
- Derginin Tarandığı İndeksler: Scopus
- Sayfa Sayıları: ss.105-106
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Craniofrontonasal dysplasia is a rare X-linked disorder that maps to 13cM region on Xp22. Phenotypic features include craniosynostosis, brachiocephaly, facial asymmetry, frontal bossing, hiperthelorism, broad nasal root and bifid nasal tip. A 6-year old gir was referred to the genetics unit for dysmorphic facial findings. On physical examination, she had growth deficiency, brachycephaly, hyperthelorism, frontal bossing, facial asymmetry, broad nasal root, bifid nasal tip, left eye ptosis, and cleft palate. The case revealed right coronal craniosynosytosis by computed tomography scan. In cytogenetic analysis of the case peripheral blood cells identified a normal (46,XX) karyotype. Since such cases are rare in the medical literature we wanted to present her as a case report.