ReviewAnnals of pediatric endocrinology & metabolism2015
Guidelines for genetic skeletal dysplasias for pediatricians.
Review in Annals of pediatric endocrinology & metabolism, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 32 citations in OpenAlex.
- Dentomaxillofacial abnormalities associated with rare bone disease in two pediatric populations from southern Europe and East Africa.Orphanet journal of rare diseases · 2025Article
- Genetic skeletal disorders: phenotypic-genotypic characteristics and RhGH therapy responses of a pediatric cohort.Scientific reports · 2025Article
- Article
- Bone disease and oromaxillofacial disorders: a cross- sectional study in a Tanzanian pediatric population.Orphanet journal of rare diseases · 2025Article
- Synergistic effects of biological stimuli and flexion induce microcavities promote hypertrophy and inhibit chondrogenesis during in vitro culture of human mesenchymal stem cell aggregates.Biotechnology journal · 2024Article
- Commentary on "Growth plate extracellular matrix defects and short stature in children".Annals of pediatric endocrinology & metabolism · 2022Article
- Article
- New gene discoveries in skeletal diseases with short stature.Endocrine connections · 2021Review
- An unusual diagnosis for an usual test.Italian journal of pediatrics · 2020Article
- Quantitative anatomy of the primary ossification center of the radial shaft in human fetuses.Surgical and radiologic anatomy : SRA · 2019Article
- Quantitative anatomy of the ulna's shaft primary ossification center in the human fetus.Surgical and radiologic anatomy : SRA · 2019Article
- The primary ossification of the human fetal ischium: CT, digital-image analysis, and statistics.Surgical and radiologic anatomy : SRA · 2019Article
- Quantitative anatomy of the ilium's primary ossification center in the human fetus.Surgical and radiologic anatomy : SRA · 2018Article
- Ossification center of the humeral shaft in the human fetus: a CT, digital, and statistical study.Surgical and radiologic anatomy : SRA · 2017Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Skeletal dysplasia (SD) is a kind of heterogeneous genetic disorder characterized by abnormal growth, development, differentiation, and maintenance of the bone and cartilage. The patients with SD most likely to be seen by a pediatrician or orthopedic surgeon are those who present with short stature in childhood. Because each category has so many diseases, classification is important to understand SD better. In order to diagnose a SD accurately, clinical and radiographic findings should be evaluated in detail. In addition, genetic diagnosis of SD is important because there are so various SDs with complex phenotypes. To reach an exact diagnosis of SDs, cooperative approach by a clinician, a radiologist and a geneticist is important. This review aims to provide an outline of the diagnostic approach for children with disproportional short stature.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.