title: Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance.
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.
authors.affiliation: Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. pelinozlem@hacettepe.edu.tr
authors.forename: Pelin Özlem Şimşek
authors.initials: PÖ
authors.lastname: Kiper
authors.forename: Gülen Eda
authors.initials: GE
authors.lastname: Utine
authors.forename: Koray
authors.initials: K
authors.lastname: Boduroğlu
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Alanay
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D025063:Chromosome Disorders / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D010855:Pierre Robin Syndrome / Q000235:genetics*