Case Reports
doi: 10.1002/ajmg.1320400119.
Acrocallosal syndrome: a new case
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- PMID: 1887856
- DOI: 10.1002/ajmg.1320400119
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Case Reports
Acrocallosal syndrome: a new case
Am J Med Genet.
.
Abstract
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.
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