A new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic ears, dental anomalies, and exclusion of NOG and GDF5.
Am J Med Genet A
; 120A(3): 381-5, 2003 Jul 30.
Article
em En
| MEDLINE
| ID: mdl-12838559
ABSTRACT
A Thai girl with a unique combination of limb and craniofacial anomalies is reported. Manifestations include blepharoptosis; prominent nose; hypodontia; multiple, hyperplastic frenula; and dysplastic ears. Limb anomalies include short stature, postaxial polydactyly of both hands and the left foot, proximal and distal symphalangism of fingers, and congenital absence of the distal phalanges of toes 2-5. Mutation analyses of NOG and GDF5, the genes responsible for symphalangism-related syndromes, were negative.
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Base de dados:
MEDLINE
Assunto principal:
Deformidades Congênitas dos Membros
/
Anormalidades Craniofaciais
/
Proteínas Morfogenéticas Ósseas
Limite:
Child
/
Female
/
Humans
Idioma:
En
Ano de publicação:
2003
Tipo de documento:
Article