Microcephaly, microphthalmia, congenital cataract, with calcification of the basal ganglia: MCA/MR syndrome.
We present a Hungarian girl with microcephaly, microphthalmia, congenital cataract, prominent nasal root, peaked nose, micrognathia with high arched palate, mild mental retardation, calcification of the basal ganglia and serology for the connatal infections. We suggest that our proband may be an allelic variant of COFS syndrome.
Abdel-Salam
G M
GM
Department of Human Genetics and Teratology, National Center of Public Health, Budapest, Hungary.
Svékus
A
A
Pelle
Z
Z
Halász
A A
AA
Czeizel
A E
AE
D000293:Adolescent; D001480:Basal Ganglia Diseases / Q000000981:diagnostic imaging; D001921:Brain / Q000000981:diagnostic imaging; D002114:Calcinosis; D002386:Cataract / Q000151:congenital*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008831:Microcephaly; D008850:Microphthalmos; D013577:Syndrome; D014057:Tomography, X-Ray Computed