Two male siblings with cavum septum pellucidum, cavum vergae, macrocephaly, seizures and mental retardation. A new hereditary syndrome?
We report two brothers from non-consanguineous parents who share a particular constellation of clinical and radiographic findings, including macrocephaly, mental retardation and seizures as well as megalencephaly, cavum septum pellucidum and persistence of cavum vergae. The similar characteristics of these two brothers suggest a hereditary syndrome.
Sánchez
O
O
Unidad de Genética Médica, Escuela de Medicina, Universidad de Oriente, Ciudad Bolivar, Venezuela.
Nastasi
J
J
Escalona
J
J
Guerra
D
D
D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D002675:Child, Preschool; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009679:Nuclear Family; D012640:Seizures / Q000235:genetics*; D012688:Septum Pellucidum / Q000002:abnormalities*; D013577:Syndrome