Acondroplasia

Eur J Pediatr (2011) 170:453–459
DOI 10.1007/s00431-010-1302-8

ORIGINAL PAPER

Growth references for height, weight, and head
circumference for Argentine children with achondroplasia
Mariana del Pino & Virginia Fano & Horacio Lejarraga

Received: 10 July 2010 / Accepted: 15 September 2010 / Published online: 12 October 2010
# Springer-Verlag 2010

Abstract In order to prepare growthreferences for height,
weight, and head circumference for Argentine children with
Achondroplasia, 228 children (114 boys) aged 0–18 years
attending the Growth Clinic at Hospital Garrahan were
measured between 1992 and 2009. Centiles were calculated
by LMS, a method for summarizing growth data which
adjusts for skewness. Curves for centiles are obtained using
the formula: C100 a ðt Þ ¼ Mðt Þ ð1þLðt ÞS ðt ÞZa Þ1=LðtÞ , where
Zα is the normal equivalent deviate for tail area α; C100α is
the weight or height centile corresponding to Zα, t is age in
years, and L(t) is (skewness)(t), M(t) is median, S (t) is
coefficient variation and C 100 α ( t ) indicates the
corresponding values of each curve at age t. Boys and girls
centiles for height were similar to USA references ininfancy and childhood but lower than that references at
adolescence. Final height was 1.7 and 5.1 cm below USA
achondroplasia references in girls and boys, respectively.
Head circumference centiles were, at all ages, lower
than USA references in both genders. Countries need
national references for clinical growth assessment of
their local population. Likewise, specific local growth
referencesfor children with some genetic conditions
(such us achondroplasia) are valuable tools for detecting
additional conditions affecting growth, for estimating
final height and for evaluating the impact of growthpromoting treatments. Conclusion: references presented

Electronic supplementary material The online version of this article
(doi:10.1007/s00431-010-1302-8) contains supplementarymaterial,
which is available to authorized users.
M. del Pino (*) : V. Fano : H. Lejarraga
Growth and Development, Pediatric Garrahan Hospital,
Combate de los Pozos 1881,
1245 Buenos Aires, Argentina
e-mail: mdelpino@garrahan.gov.ar

here can also be used in other countries with similar
ethnographics characteristics.
Keywords Achondroplasia . Anthropometry . Height .
Weight . Headcircumference . FGFR3

Introduction
Achondroplasia (ACH) is the most common form of
inherited disproportionate short stature. It occurs in one in
10,000–30,000 live births [25, 32]. Clinical features include
severe short stature, disproportionately short limbs, short
fingers with typical “trident” configuration of the hand,
large head circumference, facial features with frontal
bossing and mildface hypoplasia, and modestly constricted
chest. The most important radiological features are small
skull base and foramen magnum, narrowing interpediculate
distance in the lumbar spine and short vertebral bodies;
square iliac wings, short, thick long bones and short
proximal and middle phalanges. ACH is inherited as an
autosomal dominant, caused by mutation in the fibroblast
growth factorreceptor-3 (FGFR3), which is located at
4p16.3 [2, 26].
The diagnosis is made on the basis of clinical and
radiological features [27] and molecular studies can be
carried out in those rare cases in which diagnosis is in
doubt.
Specific growth standards for genetic disorders have
been prepared for children in ACH, Turner Syndrome and
other conditions [8, 10–13, 31]. They are useful not onlyfor detecting additional conditions which could affect
growth, but also for estimating final height and hence
evaluating the impact of growth-promoting treatments [22,
31].

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Table 1 Number at each age contributing to the LMS analyses by
gender
Age (years)

Height

Weight

investigation is an observational, descriptive crosssectional and...