BACKGROUND Recently, whole exome sequencing identified heterozygous defects in the aggrecan (ACAN) gene in three families with short stature and advanced bone age. OBJECTIVE We report a novel frameshift mutation in ACAN in a family with dominantly inherited short stature, advanced bone age, and premature growth cessation. This is the first case of targeted sequencing of ACAN in this phenotype...

OBJECTIVE To study the difference of plasma actual bicarbonate between the children with growth hormone deficiency (GHD) and idopathatic short stature (ISS) and to value the plasma bicarbonate standard deviation scores (SDS) in diagnosis of GHD. METHODS Forty-seven short stature children were divided into two groups (GHD and ISS) according to the peak GH response to provocative test. Plasma a...

Objectives. We investigate whether parents complaining of their children's short stature have misconception of their height. Methods. Parents were asked to report their own height and were then measured. We compared the difference between reported and actual height of parents of children with short stature (CSS) with that of parents coming for a well child care visit (WCC) and parents of childr...

Neurofibromatosis type 1 (NF1) is classically defined by the presence of multiple café-au-lait macules as one of the diagnostic criteria. Turner syndrome (TS) can also present with café-au-lait macules along with short stature. Our patient is the fifth reported with both NF1 and TS and the first who has been on growth hormone for short stature associated with TS.

Although a height >2SD below the mean for age and gender is used to define short stature, evaluation of short children based on this criteria yields organic etiology only in 14 % of these children. However, when a height SD <−3 is considered for the evaluation of short stature, the proportion of children with organic causes increases to 58 %. Nevertheless, children with height between −2SD and ...

Paediatricians need to develop a strategy for assessing and managing the short child because it is a common reason for referral to paediatric services. Understanding what is normal is a key prerequisite to the appropriate assessment of the short child. Most pathological causes of short stature will be associated with clues in the history or on examination. Factors that should trigger a more det...

Human growth, from fetal life to adolescence, is dynamic and a good marker of health. Growth is a complex process influenced by genetic, hormonal, nutritional and environmental factors, both preand postnatally. To date, no international agreement regarding normal height has been established. Auxological parameters are fundamental to investigate potential short stature (SS), either with a known ...

For early detection of pathological causes of growth failure proper referral criteria are needed, as well as a thorough clinical, radiological and laboratory assessment. In this minireview we first discuss the two consensus-based and one evidence-based guidelines for referral that have been published. The evidence-based guidelines result in a sensitivity of approximately 80% at a false-positive...

The Food and Drug Administration (FDA) approved the use of biosynthetic GH for the treatment of children with idiopathic short stature (ISS) in the US in 2003. Primarily, the decision was based on two studies: a randomized placebo-controlled study and a dose–response study, both demonstrating an increase in adult height over the predicted height at baseline and over placebo-treated controls by ...