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

ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K., ALANAY Y.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, sa.9, ss.2288-2292, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: Sayı: 9
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1002/ajmg.a.34163
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.2288-2292
  • Anahtar Kelimeler: Catel-Manzke syndrome, cleft palate, autosomal recessive inheritance, Pierre Robin sequence, DESBUQUOIS DYSPLASIA, CLEFT-PALATE, FOLLOW-UP
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Evet

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.