Cerebral gigantism

Apparent dominant inheritance

Jonathan (Jon) Zonana, D. L. Rimoin, D. A. Fisher

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Since originally defined in 1964, over 80 cases of cerebral gigantism have appeared in the literature. Developmental features consist of large size at birth, accelerated growth in early childhood with an accompanying advanced bone age, normal sexual development and usually normal final adult stature. Variable degrees of mental retardation are present. Characteristic physical features include macrocrania, dolichocephaly, high arched platelet, prognathism, large hands and feet and an increased arm span. The etiology and pathogenesis are unknown and with the exception of single reported pairs of monozygotic twins, 1st cousins and sibs, all other reported cases have been sporadic. A genetic etiology has been suggested; however, a clear mode of inheritance has not been determined. A family in which cerebral gigantism appears to be inherited as a dominant trait is reported.

Original languageEnglish (US)
Pages (from-to)63-69
Number of pages7
JournalBirth Defects: Original Article Series
Volume12
Issue number6
StatePublished - 1976
Externally publishedYes

Fingerprint

Sotos Syndrome
Prognathism
Sexual Development
Monozygotic Twins
Intellectual Disability
Foot
Arm
Blood Platelets
Hand
Parturition
Bone and Bones
Growth

ASJC Scopus subject areas

  • Developmental Biology
  • Genetics(clinical)

Cite this

Cerebral gigantism : Apparent dominant inheritance. / Zonana, Jonathan (Jon); Rimoin, D. L.; Fisher, D. A.

In: Birth Defects: Original Article Series, Vol. 12, No. 6, 1976, p. 63-69.

Research output: Contribution to journalArticle

Zonana, Jonathan (Jon) ; Rimoin, D. L. ; Fisher, D. A. / Cerebral gigantism : Apparent dominant inheritance. In: Birth Defects: Original Article Series. 1976 ; Vol. 12, No. 6. pp. 63-69.
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