Autosomal Dominant Microcephaly Without Mental Retardation

Livia N. Rossi, Gianna Candini, Gabriella Scarlatti, Giuliana Rossi, Emilia Prina, Silvana Alberti

Research output: Contribution to journalArticle

Abstract

We describe six Italian families afby microcephaly with an apparently autosomal mode of inheritance All microcephalic subjects were of normal height, with the exception of one. The head volume was measured directly in at least one adult microcephalic member from five of the six families, and lower values were obtained in these subjects than in control subjects. Psychometric tests were performed on seven children and five adults among the microcephalic subjects. Normal values were found for all but one of the subjects. In the selected families microcephaly seems to be inherited in an autosomal dominant manner. Because some families showing autosomal dominant microcephaly have normal intelligence, psychometric evaluation of microcephalic children and their microcephalic relatives is important for genetic counseling.

Original languageEnglish
Pages (from-to)655-659
Number of pages5
JournalAmerican Journal of Diseases of Children
Volume141
Issue number6
DOIs
Publication statusPublished - 1987

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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