Pachygyria/hypogenitalism: A monogenic syndrome.
We describe the clinical and neuroimaging findings of two severely retarded boys born to consanguineous parents. This appears to be a monogenic condition of abnormal neuronal migration associated with hypogenitalism. Reports of other monogenic syndromes of neuronal migration abnormalities are reviewed.
Pradhan
M
M
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
Phadke
S R
SR
Jain
S
S
Agarwal
S S
SS
D002465:Cell Movement; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D010413:Penis / Q000002:abnormalities* / Q000473:pathology; D013737:Testis / Q000002:abnormalities* / Q000473:pathology