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Effects and Safety of Growth Hormone Treatment in Six Children with Pycnodysostosis.
Horm Res Paediatr
June 2024
Dutch Growth Research Foundation, Rotterdam, The Netherlands.
Introduction: Pycnodysostosis is an extremely rare skeletal dysplasia caused by cathepsin K deficiency. It is characterized by extreme short stature with adult height (AH) in males typically less than 150 cm and in females less than 130 cm. Our objective was to evaluate the effect and safety of growth hormone (GH) treatment in 6 patients with pycnodysostosis treated according to the Dutch national pycnodysostosis guideline.
View Article and Find Full Text PDFPycnodysostosis: Characteristics of teeth, mouth and jaws.
Orthod Craniofac Res
August 2024
Department of Dentistry and Oral Health, Section of Orthodontics, Aarhus University, Aarhus, Denmark.
Objectives: To describe the clinical and radiographic oro-dental characteristics of patients with pycnodysostosis (PDO).
Materials & Methods: A short interview and clinical examination of seven patients with PDO were performed as well as assessment of the temporomandibular joints and masticatory muscles using the diagnostic criteria for temporomandibular disorders, DC-TMD form. A full set of records were taken including photos and intraoral scan.
Management of long bone fractures in patients with pycnodysostosis.
BMJ Case Rep
September 2023
Orthopedic Surgery, Indraprastha Apollo Hospital, New Delhi, India
Pycnodysostosis is a rare genetic condition that leads to generalised bony sclerosis and increased fracture risk. Orthopaedic specialists play a crucial role in managing affected children due to their susceptibility to frequent fractures. We had a case of a middle childhood female patient with pycnodysostosis and a femur fracture.
View Article and Find Full Text PDFCase report: a giant cell-rich gnathic bone lesion in a child with pycnodysostosis.
Front Oral Health
May 2023
Division of Human Genetics, University of Cape Town, Cape Town, South Africa.
Pycnodysostosis is a skeletal dysplasia characterized by short stature, generalized osteosclerosis, acro-osteolysis, and recognizable facial features. Oral manifestations are commonly described and include a high-arched palate with dental crowding and malocclusion, hypoplastic enamel, and retained deciduous teeth with impacted permanent teeth, and there is an increased risk of developing osteomyelitis of the jaw. We report here the history of a 9-year-old male with the typical facial and skeletal phenotype of pycnodysostosis but novel oral features.
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