Two cases of macrocephaly and immune deficiency.
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.
Cogulu
Ozgur
O
Departments of Pediatrics Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.
Aykut
Ayca
A
Kutukculer
Necil
N
Ozkinay
Cihangir
C
Ozkinay
Ferda
F
D001827:Body Height; D002508:Cephalometry; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000150:complications*; D005260:Female; D006801:Humans; D007136:Immunoglobulins / Q000097:blood; D007153:Immunologic Deficiency Syndromes / Q000150:complications*; D007223:Infant; D008297:Male; D010375:Pedigree
D007136:Immunoglobulins