Two cases of macrocephaly and immune deficiency
Makaleler > Tam Makale · 2007
Yazarlar: Muhsin Özgür ÇOĞULU, Ayça AYKUT, Necil KÜTÜKÇÜLER, CİHANGİR ÖZKINAY, Feriştah Ferda ÖZKINAY
Clinical Dysmorphology, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Wos, 2007, cilt 16, ss 81-84
DOI: 10.1097/mcd.0b013e3280464ee6
Özet
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.