| Literature DB >> 21834032 |
Pelin Özlem Şimşek Kiper1, Gülen Eda Utine, Koray Boduroğlu, Yasemin Alanay.
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.Entities:
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Year: 2011 PMID: 21834032 DOI: 10.1002/ajmg.a.34163
Source DB: PubMed Journal: Am J Med Genet A ISSN: 1552-4825 Impact factor: 2.802