Acrocallosal syndrome in a girl born to consanguineous parents.
The present report describes on a 1-year-old girl with macrocephaly, bulging forehead, ocular hypertelorism, antimongoloid palpebral slant, convergent strabismus, atrophy of optic papillae, short philtrum, protruding lips, high-arched palate, bifid uvula, broad trunk, apparently widely spaced nipples, diastasis recti, small umbilical hernia, tapering fingers, fifth-finger clinodactyly, postaxial polydactyly of the left hand, and bilateral hallux duplication. Partial agenesis of the corpus callosum and central diffuse cortical cerebral atrophy was documented on computed tomography. Chromosomes were normal. Parents were related as half first cousins. Their previous pregnancy had ended in a miscarriage. We suggest that this patient has an acrocallosal syndrome inherited as an autosomal recessive trait. This supports other recent reports that have considered this entity to differ from Greig cephalopolysyndactyly.
Salgado
L J
LJ
Sección Genética, Centro de Educación Médica e Investigaciones Clínicas, La Plata, Argentina.
Ali
C A
CA
Castilla
E E
EE
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D061085:Agenesis of Corpus Callosum; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics / Q000503:physiopathology; D013577:Syndrome