Multifactorial inheritance of non-syndromic macrocephaly

Clinical Genetics
L ArbourF C Fraser

Abstract

To reevaluate previous claims that non-syndromic macrocephaly is usually inherited as an autosomal dominant trait. Head size was measured in the parents and sibs of children with non-syndromic macrocephaly. If autosomal dominant inheritance is involved, the frequency distribution should be bimodal. Head circumference of parents and sibs of the macrocephalic probands had a mean significantly greater than the population norm, and a unimodal distribution. Probands with psychomotor impairment had bigger heads, and more had a history of birth difficulty, than did unimpaired probands. The usual genetic basis for non-syndromic macrocephaly is multifactorial with a polygenic genetic basis, rather than autosomal dominant. Risk of recurrence appears to be much lower than if it would be on the assumption of autosomal dominant inheritance. Macrocephaly in a parent or sib of an unborn child may present a risk for birth injury to that child. A larger series of patients will be necessary to resolve this question.

References

Jul 1, 1979·Archives of Disease in Childhood·R E Day, W H Schutt
Mar 1, 1979·The Journal of Pediatrics·W C RobertsonJ F Sackett
Mar 1, 1991·Developmental Medicine and Child Neurology·P GovaertJ Leroy
Apr 1, 1986·American Journal of Obstetrics and Gynecology·L J DierkerP Lynn
Jun 1, 1989·Perceptual and Motor Skills·B A LewisS J Horwitz
Nov 1, 1986·Pediatric Neurology·W DeMyer
Mar 1, 1987·American Journal of Obstetrics and Gynecology·E A Friedman, D B Acker
Feb 1, 1985·British Journal of Obstetrics and Gynaecology·R S Illingworth
Mar 1, 1974·Neurology·H SchreierJ Davis
Mar 1, 1984·American Journal of Obstetrics and Gynecology·J A LowE J Karchmar
Oct 1, 1981·Developmental Medicine and Child Neurology·R D Smith

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Citations

Dec 26, 2001·American Journal of Medical Genetics·F C Fraser, L A Arbour
Jun 2, 2011·American Journal of Human Biology : the Official Journal of the Human Biology Council·Karri SilventoinenYoshie Yokoyama
Jun 21, 2008·American Journal of Medical Genetics. Part a·F Clarke Fraser
Jul 17, 2008·American Journal of Medical Genetics. Part a·Charles A WilliamsAgatino Battaglia
Jun 8, 2011·Neurosurgical Review·Sverre Morten ZahlKnut Wester
Jan 1, 2015·Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova·O A Milovanova

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