ArticleAACE clinical case reports
Pycnodysostosis: A Growth Hormone Responsive Skeletal Dysplasia.
Article in AACE clinical case reports. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 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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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
6 citing papers in PubMed, 8 citations in OpenAlex.
- From genotype to phenotype: the impact of early management in pycnodysostosis.Endocrinology, diabetes & metabolism case reports · 2025Article
- Effects and Safety of Growth Hormone Treatment in Six Children with Pycnodysostosis.Hormone research in paediatrics · 2025Article
- Pycnodysostosis: a case series of eight Saudi patients with cathepsin K gene mutation and a literature review.Frontiers in endocrinology · 2025Review
- Bone Material Properties in Bone Diseases Affecting Children.Current osteoporosis reports · 2023Review
- Evaluation of Clinical Characteristics and Growth Hormone Response in a Rare Skeletal Dysplasia: Pycnodysostosis.Cureus · 2023Article
- Review
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivePycnodysostosis is commonly associated with growth hormone (GH) deficiency and responds well to GH therapy with achievement of normal or near-normal height and restoration of body proportions. CASE REPORT: A 22-month-old extremely short (-4.05 height standard deviation score) disproportionate boy with skeletal dysplasia presented to clinic. Skeletal survey, genetic panel, magnetic resonance imaging, and an insulin-like growth factor generation tests were performed.
resultsSkeletal survey showed increased bone density with classic features of pycnodysostosis, subsequently confirmed to be due to a deleterious homozygous frameshift mutation in
conclusionIt is important to consider GH therapy in children with pycnodysostosis, with the greatest benefit seen in children started at a young age.
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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.