Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance.
Am J Med Genet A
; 155A(9): 2288-92, 2011 Sep.
Article
em En
| MEDLINE
| ID: mdl-21834032
ABSTRACT
We describe a 3-month-old male infant with cleft palate, glossoptosis, micrognathia, and bilateral clinodactyly, an association which is characteristic of Catel-Manzke syndrome. In addition, the patient had ligamentous laxity in the knee which is a rare finding of this syndrome. The mode of inheritance of Catel-Manzke syndrome is unknown. Most cases are thought to be sporadic but the present patient with consanguinity between the parents and a possibly affected sib provide support for autosomal recessive inheritance.
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Síndrome de Pierre Robin
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Anormalidades Múltiplas
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Deformidades Congênitas da Mão
Limite:
Adult
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Female
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Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article