ArticleBMJ case reports2012
A child with bone fractures and dysmorphic features: remember of pycnodysostosis and craniosynostosis.
Article in BMJ case reports, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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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
5 citing papers in PubMed, 11 citations in OpenAlex.
- Clinical and radiographic characteristics of pycnodysostosis: A systematic review.Imaging science in dentistry · 2024Review
- Genetic Causes of Craniosynostosis: An Update.Molecular syndromology · 2019Review
- Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2018Article
- Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.Orphanet journal of rare diseases · 2014Article
- Pycnodysostosis- a rare disorder with distinctive craniofacial dysmorphia. A case report.Journal of oral biology and craniofacial researchArticle
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Accidental bony injuries are common in children. Children may also present with bony injuries following non-accidental injuries. Pathological fractures, though extremely rare, are an important entity and constitute fractures that occur in abnormal bones, usually after minor trauma. Pycnodysostosis is a rare skeletal dysplasia characterised by a clinical phenotype that includes short stature, skull deformities, osteosclerosis, acroosteolysis and bone fragility. Often the disease is diagnosed at an early age as a result of the investigation of short stature. However, the diagnosis is sometimes delayed and must be considered in any child with a history of recurrent or multiple bone fractures and dysmorphic features. The purpose of this report is to describe the clinical, radiological and genetic issues of a 9-year-old girl with a long history of multiple bone fractures. She had been subjected to safeguarding investigations previously and was identified to have dysmorphic features diagnosed as pycnodysostosis associated with craniosynostosis.
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Registered trials
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