Two cases of macrocephaly and immune deficiency


COGULU O. , Aykut A. , Kutukculer N. , OZKİNAY C., Ozkinay F.

CLINICAL DYSMORPHOLOGY, vol.16, no.2, pp.81-84, 2007 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 16 Issue: 2
  • Publication Date: 2007
  • Doi Number: 10.1097/mcd.0b013e3280464ee6
  • Title of Journal : CLINICAL DYSMORPHOLOGY
  • Page Numbers: pp.81-84

Abstract

Macrocephaly describes a head circumference greater than two standard deviations above the mean and is a feature of a number of genetic syndromes. Here we report on two patients with microcephaly, immune deficiency and anemia. In addition, one case had periventricular leukomalacia and the other case had myelinisation delay in periventricular white matter development. These cases may represent a distinct new syndrome.