Adams-Oliver syndrome: further evidence for autosomal recessive inheritance.
We report a 7-year-old girl with Adams-Oliver syndrome who presented with extremely rare central nervous system anomalies including microcephaly, epilepsy, mental retardation and intracranial calcifications in addition to the classical scalp and limb defects.
Unay
B
B
Sarici
S U
SU
Gül
D
D
Akin
R
R
Gökçay
E
E
D000015:Abnormalities, Multiple / Q000235:genetics*; D000505:Alopecia / Q000235:genetics; D002114:Calcinosis / Q000235:genetics; D002648:Child; D004827:Epilepsy / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics*; D012535:Scalp / Q000002:abnormalities*