Association between Head Circumference and Body Size

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Abstract

Background/Aims: Studies on the association between head circumference (HC) and height or weight have shown variable results. Methods: Using data from the Dutch nationwide survey performed in 1997 (n = 14,500), we calculated correlations for different ages, and fitted a regression model for the estimation of HC. HC versus height charts were created for different age groups. Data from children from other ethnic groups and children with various growth disorders were plotted on the charts and compared with reference data. Results: Correlations between HC and height or weight showed similar patterns: highest at birth, followed by a rapid decline to a stable level and a peak in adolescence. On charts containing the regression line ±2 standard deviations for subjects aged 0–2 months and 2 months to 21 years, Turkish and Moroccan children, as well as children with idiopathic short stature and small for gestational age, had a normal HC for height, whereas children with an insulin-like growth factor 1 receptor defect or Sotos syndrome showed trends towards a smaller or larger HC for height, respectively. Conclusion: HC correlates strongly with height and weight. The charts of HC for height may serve as an additional tool to interpret HC in short or tall children.

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Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.

Denise Horn, Darrel Waggoner, Kim Coleman … (2005)

We identified 266 individuals with intragenic NSD1 mutations or 5q35 microdeletions encompassing NSD1 (referred to as "NSD1-positive individuals"), through analyses of 530 subjects with diverse phenotypes. Truncating NSD1 mutations occurred throughout the gene, but pathogenic missense mutations occurred only in functional domains (P < 2 x 10(-16)). Sotos syndrome was clinically diagnosed in 99% of NSD1-positive individuals, independent of the molecular analyses, indicating that NSD1 aberrations are essentially specific to this condition. Furthermore, our data suggest that 93% of patients who have been clinically diagnosed with Sotos syndrome have identifiable NSD1 abnormalities, of which 83% are intragenic mutations and 10% are 5q35 microdeletions. We reviewed the clinical phenotypes of 239 NSD1-positive individuals. Facial dysmorphism, learning disability, and childhood overgrowth were present in 90% of the individuals. However, both the height and head circumference of 10% of the individuals were within the normal range, indicating that overgrowth is not obligatory for the diagnosis of Sotos syndrome. A broad spectrum of associated clinical features was also present, the occurrence of which was largely independent of genotype, since individuals with identical mutations had different phenotypes. We compared the phenotypes of patients with intragenic NSD1 mutations with those of patients with 5q35 microdeletions. Patients with microdeletions had less-prominent overgrowth (P = .0003) and more-severe learning disability (P = 3 x 10(-9)) than patients with mutations. However, all features present in patients with microdeletions were also observed in patients with mutations, and there was no correlation between deletion size and the clinical phenotype, suggesting that the deletion of additional genes in patients with 5q35 microdeletions has little specific effect on phenotype. We identified only 13 familial cases. The reasons for the low vertical transmission rate are unclear, although familial cases were more likely than nonfamilial cases (P = .005) to carry missense mutations, suggesting that the underlying NSD1 mutational mechanism in Sotos syndrome may influence reproductive fitness.

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On the modelling of human growth.

J Karlberg (1987)

A new approach to modelling human linear growth from birth to maturity is presented. The model splits growth into three additive and partly superimposed components, appropriately named infancy, childhood and puberty; we refer to it as the ICP-model for obvious reasons. A key feature of this model, compared with others, is that the components correspond with known features of the endocrinological regulation of growth and can be considered in isolation from one another.

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A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor.

M Breuning, M. Karperien, Geert van Leenders … (2006)

The type 1 IGF-I receptor (IGF1R) mediates the biological functions of IGF-I. Binding of IGF-I to the IGF1R results in autophosphorylation of the intracellular beta-subunit and activation of intracellular signaling. The objective of this study was to evaluate the functional characteristics of a novel IGF1R mutation and describe the phenotypic features of two patients with this mutation. The study was performed in a university hospital. We describe a 35-yr-old female with mild intrauterine growth failure, progressive postnatal growth retardation, severe failure to thrive, and microcephaly. Her daughter was born with severe intrauterine growth retardation and also showed postnatal failure to thrive and microcephaly. We found a heterozygous G3148-->A nucleotide substitution in the IGF1R gene, changing a negatively charged glutamic acid at position 1050 into a positively charged lysine residue (E1050K). E1050 is a conserved residue in the intracellular kinase domain. Dermal fibroblasts of the mother showed normal binding of iodinated IGF-I, but autophosphorylation and activation of downstream signaling cascades upon challenging with IGF-I was markedly reduced. Consequently, the maximal [(3)H]thymidine incorporation upon challenge with a dose range of IGF-I was reduced compared with a panel of control cells (3.65 +/- 1.79-fold vs. 6.75 +/- 4.7-fold stimulation; P < 0.01). These data suggest that the mutation results in the inactivation of one copy of the IGF1R gene. These two patients support the key role for IGF-I in intrauterine and postnatal growth. The different phenotypes of these and earlier described patients may be associated with variability in IGF-I signaling. The degree of intrauterine growth retardation may be partially determined by the presence or absence of maternal IGF-I resistance.

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Author and article information

Journal

Journal ID (publisher-id): HRP

Journal ID (nlm-ta): Horm Res Paediatr

Journal ID (doi): 10.1159/issn.1663-2818

Title: Hormone Research in Paediatrics

Publisher: S. Karger AG

ISSN (Print): 1663-2818

ISSN (Electronic): 1663-2826

Publication date Subscription-year: 2011

Publication date (Print): March 2011

Publication date (Electronic): 10 February 2011

Volume: 75

Issue: 3

Pages: 213-219

Affiliations

^aDepartment of Pediatrics, Leiden University Medical Center, ^bTNO Quality of Life, Department of Statistics, Leiden, and ^cDepartment of Methodology and Statistics, University of Utrecht, Utrecht, The Netherlands; ^dDepartment of Pediatric Endocrinology, University Hospital for Children and Adolescents, Tübingen, Germany

Author notes

*W. Oostdijk, Department of Pediatrics J6-S, Leiden University Medical Center, PO Box 9600, NL–2300 RC Leiden (The Netherlands), Tel. +31 715 262 811, Fax +31 715 248 198, E-Mail w.oostdijk@lumc.nl

Article

Publisher ID: 321192 Other ID: Horm Res Paediatr 2011;75:213–219

DOI: 10.1159/000321192

PubMed ID: 21311161

SO-VID: bd7134e6-0fdb-43b4-a1a1-d935f9ef5601

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Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

History

Date received : 28 June 2010

Date accepted : 04 September 2010

Page count

Figures: 4, Tables: 3, Pages: 7

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Association between Head Circumference and Body Size

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Karger: Endocrinology

Most cited references 20

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.

On the modelling of human growth.

A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor.

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Cited by 15

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