Unusual acrofacial dysostosis with severe limb defects: a new syndrome.
Genet Couns
; 22(3): 249-53, 2011.
Article
em En
| MEDLINE
| ID: mdl-22029165
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.
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Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Deformidades Congênitas dos Membros
/
Disostose Mandibulofacial
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article