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Catel–Manzke syndrome: A clinical report suggesting autosomal recessive inheritance
Author(s) -
Kiper Pelin Özlem Şimşek,
Utine Gülen Eda,
Boduroğlu Koray,
Alanay Yasemin
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34163
Subject(s) - clinodactyly , autosomal recessive inheritance , inheritance (genetic algorithm) , consanguinity , medicine , ligamentous laxity , pediatrics , omim : online mendelian inheritance in man , genetics , biology , anatomy , gene , phenotype
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. © 2011 Wiley‐Liss, Inc.