A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disability.
Am J Med Genet A
; 155A(9): 2060-5, 2011 Sep.
Article
em En
| MEDLINE
| ID: mdl-21834043
ABSTRACT
We report on three patients from two families with apparently a novel clinical entity. The main features of which include unusual craniofacial dysmorphism with ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, low-set, posteriorly rotated small ears, as well as conductive hearing loss, cleft palate, heart defect, and mild developmental delay. We suggest that this entity is an autosomal dominant disorder given the occurrence in a mother and daughter as well as in an unrelated boy.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
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Transtornos Cromossômicos
/
Deficiências da Aprendizagem
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
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Child, preschool
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Female
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Humans
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Infant
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Male
/
Middle aged
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Alemanha