Microlissencephaly with cardiac, spinal and urogenital defects.
We describe two children with a brain defect similar to that described as 'microlissencephaly', as defined in Barkovich et aL [(1998) Neuroped 29: 113-119]. Concomitant malformations (cardiac, spinal, urogenital) may represent components of a wider syndrome complex; alternatively, or additionally, there may have been a valproate teratogenic effect. The inheritance is likely to be autosomal recessive, although X-linkage cannot be excluded.
Gardner
R J
RJ
Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Australia.
Savarirayan
R
R
Dunne
K B
KB
McLellan
J A
JA
Coleman
L T
LT
Suthers
G K
GK
D000014:Abnormalities, Drug-Induced; D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000927:Anticonvulsants / Q000009:adverse effects; D001921:Brain / Q000002:abnormalities*; D005315:Fetal Diseases / Q000473:pathology; D006330:Heart Defects, Congenital / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D013131:Spine / Q000002:abnormalities*; D014564:Urogenital Abnormalities / Q000235:genetics / Q000473:pathology*; D014635:Valproic Acid / Q000009:adverse effects
D000927:Anticonvulsants; D014635:Valproic Acid