Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome?
A male patient presented with a pattern of congenital malformations including macrocephaly, absence of the corpus callosum, hypertelorism, small nose, bilateral inguinal hernias, postaxial polydactyly of all limbs and duplication with syndactyly of the big toes. His development was marked by growth retardation, repeated infections, cyanotic spells, seizures, and gross motor and mental retardation. This case probably represents a newly recognized malformation syndrome of hitherto unknown etiology.
D000015:Abnormalities, Multiple; D061085:Agenesis of Corpus Callosum; D001921:Brain / Q000002:abnormalities*; D002675:Child, Preschool; D005385:Fingers / Q000002:abnormalities*; D005528:Foot / Q000000981:diagnostic imaging; D006214:Hallux / Q000002:abnormalities*; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability; D008297:Male; D011859:Radiography; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*