Unusual acrofacial dysostosis with severe limb defects: A new syndrome
Genetic Counseling, cilt.22, sa.3, ss.249-253, 2011 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 22 Sayı: 3
- Basım Tarihi: 2011
- Dergi Adı: Genetic Counseling
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.249-253
- Anahtar Kelimeler: Acrofacial dysostoses, Micrognathia, Limb defects
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Unusual acrofacial dysostosis with severe limb defects: a new syndrome: The acrofacial dysostoses are a heterogeneous group of disorders characterised by defects in craniofacial and limb development. The hallmarks include downward slanting palpebral fissures, malar hypoplasia, and retrognathia combined with variable limb malformations. We report the patient, a 5-day-old-boy with craniofacial dysmorphic features and upper and lower limb defects respectively.