Familial white matter hypoplasia, agenesis of the corpus callosum, mental retardation and growth deficiency: a new distinctive syndrome.
We have observed in two different families two pairs of male siblings born from normal, non-consanguineous parents having the same syndrome, characterized by severe cerebral white matter hypoplasia, agenesis or extreme hypoplasia of the corpus callosum, mental retardation, failure to thrive and minor midline facial abnormalities. This seems to be a previously unreported genetic syndrome.
Curatolo
P
P
Department of Child Neurology and Psychiatry, University La Sapienza, Rome, Italy.
Cilio
M R
MR
Del Giudice
E
E
Romano
A
A
Gaggero
R
R
Pessagno
A
A
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D061085:Agenesis of Corpus Callosum; D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics; D025063:Chromosome Disorders; D003337:Corpus Callosum / Q000000981:diagnostic imaging; D005183:Failure to Thrive / Q000175:diagnosis / Q000235:genetics; D005190:Family; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D009460:Neurologic Examination; D011859:Radiography; D013577:Syndrome