The spectrum of growth abnormalities in children with 18q deletions

Daniel E. Hale, Jannine D. Cody, Jacques Baillargeon, Rebecca Schaub, Mark M. Danney, Robin J. Leach

Research output: Contribution to journalArticle

41 Citations (Scopus)

Abstract

The objective of this study was to assess the spectrum of growth abnormalities in children with 18q deletions. The growth axis of 50 individuals with a cytogenetically and molecularly confirmed 18q deletion was investigated by determining height, growth velocity, insulin-like growth factor I (IGF-I), IGF-binding protein-3, bone maturation, and response to pituitary stimulants of GH. Children with 18q deletions are short; 64% have a height more than -2 SD below the mean. Affected children also grow slowly; 68% have a growth velocity more than -1 SD below the mean. Half of the individuals have delayed bone maturation. Growth factors are skewed downward; 72% of the IGF-I values and 83% of the IGF-binding protein-3 values are below the mean for chronological age. Similarly, 72% of the children had a reduced or absent response to either of the GH stimulants, arginine and clonidine. In the total group of 50 children only 2 were normal for all parameters evaluated. Short stature and poor growth are common features of individuals with 18q deletions. GH deficiency is common in this cohort of patients and probably plays a role in the short stature seen in many of the affected individuals.

Original languageEnglish (US)
Pages (from-to)4450-4454
Number of pages5
JournalJournal of Clinical Endocrinology and Metabolism
Volume85
Issue number12
DOIs
StatePublished - 2000
Externally publishedYes

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Growth
Insulin-Like Growth Factor Binding Protein 3
Insulin-Like Growth Factor I
Bone
Bone and Bones
Clonidine
Arginine
Intercellular Signaling Peptides and Proteins

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology, Diabetes and Metabolism

Cite this

The spectrum of growth abnormalities in children with 18q deletions. / Hale, Daniel E.; Cody, Jannine D.; Baillargeon, Jacques; Schaub, Rebecca; Danney, Mark M.; Leach, Robin J.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 85, No. 12, 2000, p. 4450-4454.

Research output: Contribution to journalArticle

Hale, Daniel E. ; Cody, Jannine D. ; Baillargeon, Jacques ; Schaub, Rebecca ; Danney, Mark M. ; Leach, Robin J. / The spectrum of growth abnormalities in children with 18q deletions. In: Journal of Clinical Endocrinology and Metabolism. 2000 ; Vol. 85, No. 12. pp. 4450-4454.
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