title: Two cases of macrocephaly and immune deficiency.
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.
authors.affiliation: Departments of Pediatrics Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.
authors.forename: Ozgur
authors.initials: O
authors.lastname: Cogulu
authors.forename: Ayca
authors.initials: A
authors.lastname: Aykut
authors.forename: Necil
authors.initials: N
authors.lastname: Kutukculer
authors.forename: Cihangir
authors.initials: C
authors.lastname: Ozkinay
authors.forename: Ferda
authors.initials: F
authors.lastname: Ozkinay
mesh_terms: 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
chemical_list: D007136:Immunoglobulins