Unusual acrofacial dysostosis with severe limb defects: a new syndrome |
| |
Authors: | Karaman A Kahveci H |
| |
Affiliation: | Department of Medical Genetics, Erzurum Nenehatun Obstetrics and Gynecology Hospital, Erzurum, Turkey. alikaramandr@hotmail.com |
| |
Abstract: | 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. |
| |
Keywords: | |
本文献已被 PubMed 等数据库收录! |
|