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PubMed · 1887856

Acrocallosal syndrome: a new case.

M S Lungarotti·D Marinelli·D Mezzetti·N Caputo·A Calabro
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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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Abnormalities, MultipleAgenesis of Corpus CallosumBrainFemaleFingersGenes, RecessiveHumansInfant, NewbornIntellectual DisabilitySyndromeToesTomography, X-Ray ComputedCase ReportsJournal Article

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M S Lungarotti, D Marinelli, D Mezzetti, N Caputo, A Calabro. 1991-07-01. Acrocallosal syndrome: a new case.. https://doi.org/10.1002/ajmg.1320400119

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