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Published on: August 15, 2019
Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance
Pelin Özlem Şimşek Kiper1, Gülen Eda Utine, Koray Boduroğlu
1Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. pelinozlem@hacettepe.edu.tr
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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