Two cases of macrocephaly and immune deficiency
Articles > Article · 2007
Authors: Muhsin Özgür ÇOĞULU, Ayça AYKUT, Necil KÜTÜKÇÜLER, CİHANGİR ÖZKINAY, Feriştah Ferda ÖZKINAY
Clinical Dysmorphology, Journal Indexed in SCI Expanded, International, WoS, 2007, vol 16, pp 81-84
DOI: 10.1097/mcd.0b013e3280464ee6
Summary
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.