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Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance.
Kiper, Pelin Özlem Simsek; Utine, Gülen Eda; Boduroglu, Koray; Alanay, Yasemin.
Afiliação
  • Kiper PÖ; Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. pelinozlem@hacettepe.edu.tr
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.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Pierre Robin / Anormalidades Múltiplas / Deformidades Congênitas da Mão Limite: Adult / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2011 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Pierre Robin / Anormalidades Múltiplas / Deformidades Congênitas da Mão Limite: Adult / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2011 Tipo de documento: Article