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      Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance.

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          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.

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          Author and article information

          Journal
          Am. J. Med. Genet. A
          American journal of medical genetics. Part A
          Wiley
          1552-4833
          1552-4825
          Sep 2011
          : 155A
          : 9
          Affiliations
          [1 ] Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. pelinozlem@hacettepe.edu.tr
          Article
          10.1002/ajmg.a.34163
          21834032
          9ce66fcd-b108-4fcb-8330-0b6350ee116f
          History

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