Oculo-palato-cerebral syndrome: A third case supporting autosomal recessive inheritance

ALANAY Y., BODUROĞLU O. K., Sonmez B., Orhan M.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, sa.1, ss.92-95, 2004 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: Sayı: 1
  • Basım Tarihi: 2004
  • Doi Numarası: 10.1002/ajmg.a.30114
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.92-95
  • Hacettepe Üniversitesi Adresli: Evet

Özet

In 1985, Frydman et al. [1985: Clin Genet 27: 414-419] described a syndrome characterized by growth failure, microcephaly, persistent hyperplastic primary vitreous (PHPV) with microphthalmia, cleft palate, connective tissue abnormality, mental retardation, and spastic quadriplegia. The syndrome was termed as oculo-palato-cerebral dwarfism. The first patients described were offsprings of a consanguineous couple of Moroccan Jewish descent, suggesting autosomal recessive inheritance. An additional case was reported by Pellegrino et al. [2001: Am J Med Genet 99:200-203] in 2001. The clinical features were milder than the original cases, and there was no consanguinity. We report a third patient with oculo-palato-cerebral syndrome, supporting autosomal recessive inheritance, and a detailed comparison with the previous cases. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley. com/jpages/0148-7299/suppmat/index.html. (C) 2004 Wiley-Liss, Inc.