Top

Published in:

Open Access 01-02-2011 | Original Paper

Growth charts for children with Ellis–van Creveld syndrome

Authors: Sabine Verbeek, Paul H. C. Eilers, Kate Lawrence, Raoul C. M. Hennekam, Florens G. A. Versteegh

Published in: European Journal of Pediatrics | Issue 2/2011

Abstract

Ellis–van Creveld (EvC) syndrome is a congenital malformation syndrome with marked growth retardation. In this study, specific growth charts for EvC patients were derived to allow better follow-up of growth and earlier detection of growth patterns unusual for EvC. With the use of 235 observations of 101 EvC patients (49 males, 52 females), growth charts for males and females from 0 to 20 years of age were derived. Longitudinal and cross-sectional data were collected from an earlier review of growth data in EvC, a database of EvC patients, and from recent literature. To model the growth charts, the GAMLSS package for the R statistical program was used. Height of EvC patients was compared to healthy children using Dutch growth charts. Data are presented both on a scale for age and on a scale for the square root of age. Compared to healthy Dutch children, mean height standard deviation score values for male and female EvC patients were −3.1 and −3.0, respectively. The present growth charts should be useful in the follow-up of EvC patients. Most importantly, early detection of growth hormone deficiency, known to occur in EvC, will be facilitated.

Growth data of children with proven EvC can be sent to evc@crydee.plus.com.

Abeles AI, Tobias JD (2008) Anaesthetic implications of Ellis–van Creveld syndrome. J Clin Anesth 20:618–621PubMedCrossRef

de Onis M, Onyango AW, Borghi E et al (2007) Development of a WHO growth reference for school-aged children and adolescents. Bull World Health Organ 85:660–667PubMedCrossRef

Digilio MC, Marino B, Ammirati A et al (1999) Cardiac malformations in patients with oral–facial–skeletal syndromes: clinical similarities with heterotaxia. Am J Med Genet 84:350–356PubMedCrossRef

Ellis RW, Van Creveld SA (1940) Syndrome characterized by ectodermal dysplasia, polydactyly, chondro-dysplasia and congenital morbius cordis: report of three cases. Arch Dis Child 15:65–69PubMedCrossRef

Gawlik A, Gawlik T, Augustyn M et al (2006) Validation of growth charts for girls with Turner syndrome. Int J Clin Pract 60:150–155PubMedCrossRef

Gohlke B, Woelfle J (2009) Growth and puberty in German children: is there still a positive secular trend? Dtsch Arztebl Int 106:377–382PubMed

Growth Analyser Junior (2006)

Ide SE, Ortiz RI, Francomano CA, Polymeropoulos MH (1996) Exclusion of the MSX1 homeobox gene as the gene for the Ellis–van Creveld syndrome in the Amish. J Human Genet 98:572–575CrossRef

Lejarragaa H, del Pinoa M, Fanoa V et al (2009) Growth references for weight and height for Argentinian girls and boys from birth to maturity. Incorporation of data from the World Health Organisation from birth to 2 years and calculation of new percentiles and LMS values. Arch Argent Pediatr 107:126–133

10.

Martin ND, Smith WR, Cole TJ, Preece MA (2007) New height, weight and head circumference charts for British children with Williams syndrome. Arch Dis Child 92:598–601PubMedCrossRef

11.

Ogden CL, Kuczmarski RJ, Flegal KM et al (2002) Centers for disease control and prevention 2000 growth charts for the United States: improvements to the 1977 National Center for Health Statistics version. Pediatrics 109:141–142CrossRef

12.

Polymeropoulos MH, Ide SE, Wright M et al (1996) The gene for the Ellis van Creveld syndrome is located on 4p16. Genomics 35:1–5PubMedCrossRef

13.

Rigby RA, Stasinopoulos DM (2005) Generalized additive models for location, scale and shape. Appl Statist 54:507–554

14.

Roelants M, Hauspie R, Hoppenbrouwers K (2009) References for growth and pubertal development from birth to 21 years in Flanders, Belgium. Ann Hum Biol 7:1–15

15.

Stoll C, Dott B, Roth MP, Alembik Y (1989) Birth prevalence rates of skeletal dysplasias. Clin Genet 35:88–92PubMedCrossRef

16.

Styles M, Cole T, Dennis J, Preece M (2002) New cross sectional stature, weight, and head circumference references for Down’s syndrome in the UK and Republic of Ireland. Arch Dis Child 87:104–108PubMedCrossRef

17.

Thapa R, Mukhopadhyay M, Bhattacharya A (2008) Discordance for Ellis–van Creveld syndrome in twins. Singapore Med J 49:369–371

18.

Trotter TL, Hall JG, Committee on Genetics (2005) Health supervision for children with achondroplasia. Pediatrics 116:771–783PubMedCrossRef

19.

Versteegh FGA, Buma SA, Costin G et al (2007) Growth hormone analysis and treatment in Ellis–van Creveld syndrome. Am J Med Genet 143A:2113–2121PubMedCrossRef

Title: Growth charts for children with Ellis–van Creveld syndrome
Authors: Sabine Verbeek
Paul H. C. Eilers
Kate Lawrence
Raoul C. M. Hennekam
Florens G. A. Versteegh
Publication date: 01-02-2011
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 2/2011
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-010-1287-3

At a glance: The STEP trials

Springer Medicine

Growth charts for children with Ellis–van Creveld syndrome

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 2/2011

Practical approach to the child presenting with back pain

Endotracheal intubation in a neonatal population remains associated with a high risk of adverse events

Nephrotic syndrome occurring during tiopronin treatment for cystinuria

Congenital CMV: are we treating too many?

Clinical practice

Novel UBR1 gene mutation in a patient with typical phenotype of Johanson–Blizzard syndrome