Transverse limb defects, holoprosencephaly and neuronal heterotopia--a new syndrome?
We report an 18 week old fetus with four limb terminal transverse defects, holoprosencephaly with neuronal heterotopia and facial dysmorphism. We believe that this combination of features has not previously been described.
Slavotinek
A
A
Department of Clinical Genetics, St Mary's Hospital, Central Manchester Healthcare Trust, UK.
Stahlschmidt
J
J
Moore
L
L
D000328:Adult; D002540:Cerebral Cortex / Q000473:pathology*; D005260:Female; D016142:Holoprosencephaly; D006801:Humans; D017880:Limb Deformities, Congenital; D008297:Male; D011247:Pregnancy; D013577:Syndrome