Catel-Manzke Syndrome: A Clinical Report Suggesting Autosomal Recessive Inheritance


Kiper P. O. S. , ÜTİNE G. E. , Boduroglu K., Alanay Y.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ss.2288-2292, 2011 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Basım Tarihi: 2011
  • Doi Numarası: 10.1002/ajmg.a.34163
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Sayfa Sayısı: ss.2288-2292

Özet

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.