Nonsyndromal overgrowth in males with mild psychomotor delay

Giovanni Neri, Katharina Steindl, Attilio Mazzei, Agatino Battaglia, Marco Cappa

Research output: Contribution to journalArticlepeer-review

Abstract

Over the last 3 years we ascertained 42 patients for statural overgrowth and/or macrocephaly, who also had mild developmental delay. There were 39 males and three females, two of whom were sisters. In no case was tall stature a familial characteristic. Family history was unremarkable, except for the case of the two sisters. Physical examination did not demonstrate any consistent pattern of malformations or anomalies identifying a syndrome, known or unknown. Chromosomes were apparently normal and the molecular test for the fragile X syndrome yielded normal results in all cases. Muscular hypotonia, advanced bone age, and epilepsy were relatively consistent manifestations. The hypothalamus-pituitary axis seemed to be intact when tested through the blood levels of insulin-like growth factors I and II and of the insulin-like growth binding protein 3, and the excess of growth was apparently growth hormone independent. The condition comprising excessive growth, developmental delay, muscular hypotonia, absence of a consistent pattern of physical anomalies, and apparently sporadic occurrence, largely limited to males, may be heterogenous.

Original languageEnglish
Pages (from-to)291-293
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume79
Issue number4
DOIs
Publication statusPublished - Oct 2 1998

Keywords

  • Developmental delay
  • Insulin-like growth factor
  • Macrocephaly
  • Overgrowth
  • Tall stature
  • X-linked mental retardation

ASJC Scopus subject areas

  • Genetics(clinical)

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