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.
Department of Medical Genetics, Erzurum Nenehatun Obstetrics and Gynecology Hospital, Erzurum, Turkey. alikaramandr@hotmail.com
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Karaman
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Kahveci
D000015:Abnormalities, Multiple; D000328:Adult; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging; D008297:Male; D008342:Mandibulofacial Dysostosis; D011859:Radiography; D013577:Syndrome