AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no.9, pp.2288-2292, 2011 (SCI-Expanded)
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. (C) 2011 Wiley-Liss, Inc.