ArticleEuropean journal of endocrinology2014
Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patients.
Article in European journal of endocrinology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early Adulthood.Endocrine reviews · 2023Guideline
- Anastrozole plus leuprorelin in early maturing girls with compromised growth: the "GAIL" study.Journal of endocrinological investigation · 2016Trial
- Growth Hormone Treatment for Non-GHD Disorders: Excitement Tempered by Biology.The Journal of clinical endocrinology and metabolism · 2024Review
- Exploring the Genetic Causes for Postnatal Growth Failure in Children Born Non-Small for Gestational Age.Journal of clinical medicine · 2023Article
- Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations.Molecular genetics and genomics : MGG · 2023Article
- A Genetic Approach in the Evaluation of Short Stature.The Eurasian journal of medicine · 2022Article
- HeterozygousGenes · 2022Article
- Growth hormone therapy in short-stature patients with kyphoscoliosis: a literature review.EFORT open reviews · 2022Review
- Novel Physique Index for the Screening of Skeletal Dysplasia at Birth.Children (Basel, Switzerland) · 2021Article
- Genetic Screening for Growth Hormone Therapy in Children Small for Gestational Age: So Much to Consider, Still Much to Discover.Frontiers in endocrinology · 2021Review
- Sitting Height to Standing Height Ratio Reference Charts for Children in the United States.The Journal of pediatrics · 2020Article
- An unusual diagnosis for an usual test.Italian journal of pediatrics · 2020Article
- Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know.Current osteoporosis reports · 2017Review
- Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency.Hormone research in paediatrics · 2016Article
- Growth and development. Bone dysplasia--a frequent cause of short stature in children.Nature reviews. Endocrinology · 2014Article
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Authors and funding
15 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo assess the prevalence of skeletal dysplasias (SDs) in patients with idiopathic short stature (ISS) or small for gestational age (SGA) status.
settingRare Endocrine/Growth Diseases Center in Paris, France.
designA prospective study on consecutive patients with ISS and SGA enrolled from 2004 to 2009.
methodWe used a standardized workup to classify patients into well-established diagnostic categories. Of 713 patients with ISS (n=417) or SGA status (n=296), 50.9% underwent a skeletal survey. We chose patients labeled normal or with a prepubertal slowdown of growth as a comparison group.
resultsDiagnoses were ISS (16.9%), SGA (13.5%), normal growth (24.5%), transient growth rate slowing (17.3%), endocrine dysfunction (12%), genetic syndrome (8.9%), chronic disease (5.1%), and known SD (1.8%). SD was found in 20.9% of SGA and 21.8% ISS patients and in only 13.2% in our comparison group. SD prevalence was significantly higher in the ISS group than in the comparison group, especially (50%) for patients having at least one parent whose height was <-2 SDS. Dyschondrosteosis and hypochondroplasia were the most frequently identified SD, and genetic anomaly was found in 61.5 and 30% respectively. Subtle SD was found equally in the three groups and require long-term growth follow-up to evaluate the impact on final height.
conclusionSD may explain more than 20% of cases of growth retardation ascribed to ISS or SGA, and this proportion is higher when parental height is <-2 SDS. A skeletal survey should be obtained in patients with delayed growth in a context of ISS or SGA.
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