Acrocallosal syndrome: a new case.
We describe a 2-month-old infant girl with typical clinical manifestations of the acrocallosal syndrome: characteristic face, agenesis of corpus callosum, polydactyly associated with other anomalies of the extremities, and mental retardation. The importance of a correct nosology and genetic counseling is underlined on the basis of the description of familiar cases of the syndrome.
Lungarotti
M S
MS
Istituto di Pediatria, Università di Perugia, Italy.
Marinelli
D
D
Mezzetti
D
D
Caputo
N
N
Calabro
A
A
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D001921:Brain / Q000000981:diagnostic imaging; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D013577:Syndrome; D014034:Toes / Q000002:abnormalities; D014057:Tomography, X-Ray Computed