ArticleInternational journal of clinical and experimental medicine2014
Molecular and clinical analysis in a series of patients with Pyknodysostosis reveals some uncommon phenotypic findings.
Article in International journal of clinical and experimental medicine, 2014. 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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Who cites it
6 citing papers in PubMed, 16 citations in OpenAlex.
- A Rare Case of Pyknodysostosis (Toulouse-Lautrec Syndrome): Dental Perspectives on Comprehensive Management.Journal of clinical and experimental dentistry · 2025Article
- Clinical and radiographic characteristics of pycnodysostosis: A systematic review.Imaging science in dentistry · 2024Review
- Paraspinal soft tissue masses in a patient with a metabolic bone disease.Skeletal radiology · 2021Article
- 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 Inhibitors for Osteoporosis: Biology, Potential Clinical Utility, and Lessons Learned.Endocrine reviews · 2017Review
- From disease to treatment: from rare skeletal disorders to treatments for osteoporosis.Endocrine · 2016Review
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pyknodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, deformity of the skull, osteosclerosis, hypoplasia of the clavicle, and bone fragility. Radiographs show increased bone density, osteosclerosis, and acroosteolysis of the terminal phalanges. The pycnodysostosis gene is located on chromosome 1q21 and encodes an enzyme called Cathepsin K. Cathepsin K is a cysteine protease lysosomal protein associated with the degradation of bone and cartilage. In the current study, the authors described the clinical, radiological and molecular features of a group of six Mexican patients, including two familial and two sporadic cases, with Pyknodysostosis. One of the patients presented hypoacusia, an unusual finding in this disease.
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Identifiers
25550899PMC4276157W2177160529What OpenQuestion holds
Registered trials
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