Catel-Manzke Syndrome: A Clinical Report Suggesting Autosomal Recessive Inheritance
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, sa.9, ss.2288-2292, 2011 (SCI-Expanded, Scopus)
- 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
- Hacettepe 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.