ReviewClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology2014
Skeletal Deformity Associated with SHOX Deficiency.
Review in Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
18 citing papers in PubMed, 35 citations in OpenAlex.
- A putativebioRxiv : the preprint server for biology · 2026Article
- Langer mesomelic dysplasia as a rare manifestation ofFrontiers in genetics · 2026Review
- Automated bone age assessment in rare pediatric growth disorders: a comparative study using Deeplasia.Frontiers in endocrinology · 2026Article
- Acquired Madelung's deformity as a cause of recurrent monoarthritis in a young patient.Archives of rheumatology · 2024Article
- Monogenic causes of familial short stature.Frontiers in endocrinology · 2024Review
- Retrospective study of radial dome osteotomy with volar plate fixation versus K-wires in Madelung's deformity: long-term follow-up.International orthopaedics · 2022Article
- Factors affecting prepubertal and pubertal bone age progression.Frontiers in endocrinology · 2022Review
- Reverse wedge osteotomy for Madelung's deformity in a high school student: A case report.SAGE open medical case reports · 2021Article
- Radiotriquetral Ligament in Madelung's Deformity Associated with Leri-Weill's Dyschondrosteosis.Cureus · 2020Article
- Leri-Weill Dyschondrosteosis Syndrome: Analysis via 3DCT Scan.Medicines (Basel, Switzerland) · 2019Article
- Heterozygous Deletion of theFrontiers in genetics · 2019Article
- Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene.Scientific reports · 2018Article
- A case of 45,X/47,XXX mosaic Turner syndrome with limb length discrepancy.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2017Article
- A Track Record on SHOX: From Basic Research to Complex Models and Therapy.Endocrine reviews · 2016Review
- Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.Journal of human genetics · 2016Article
- SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature.Molecular syndromology · 2016Review
- Rare congenital chromosomal aberration dic(X;Y)(p22.33;p11.32) in a patient with primary myelofibrosis.Molecular cytogenetics · 2016Article
- A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of SHOX gene.Annals of pediatric endocrinology & metabolism · 2015Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
SHOX haploinsufficiency due to mutations in the coding exons or microdeletions involving the coding exons and/or the enhancer regions accounts for approximately 80% and 2-16% of genetic causes of Leri-Weill dyschondrosteosis and idiopathic short stature, respectively. The most characteristic feature in patients with SHOX deficiency is Madelung deformity, a cluster of anatomical changes in the wrist that can be attributed to premature epiphyseal fusion of the distal radius. Computed tomography of SHOX-deficient patients revealed a thin bone cortex and an enlarged total bone area at the diaphysis of the radius, while histopathological analyses showed a disrupted columnar arrangement of chondrocytes and an expanded hypertrophic layer of the growth plate. Recent studies have suggested that perturbed programmed cell death of hypertrophic chondrocytes may underlie the skeletal changes related to SHOX deficiency. Furthermore, the formation of an aberrant ligament tethering the lunate and radius has been implicated in the development of Madelung deformity. Blood estrogen levels and mutation types have been proposed as phenotypic determinants of SHOX deficiency, although other unknown factors may also affect clinical severity of this entity.
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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.