We describe a case in which a 41-year-old pregnant female with pycnodysostosis presented for elective cesarean section at week 37 + 5 of pregnancy. This is the first reported case of pycnodysostosis during pregnancy in Oman, to the author's best knowledge.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9638073 | PMC |
http://dx.doi.org/10.1002/ccr3.6565 | DOI Listing |
Int J Mol Sci
December 2024
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia.
Pycnodysostosis (PD) is a rare autosomal recessive skeletal dysplasia from impaired bone resorption due to osteoclastic dysfunction. The features of PD are deformity of the skull, maxilla, and phalanges; osteosclerosis; and bone fragility. We describe the case of a patient with complaints of multiple fractures of the lower extremities in the anamnesis and pain in the lower extremities, cervical spine, and shoulder girdle during physical exertion.
View Article and Find Full Text PDFSaudi J Anaesth
October 2024
Anesthesiology Departament, Instituto José Frota, Fortaleza, Ceará, Brazil.
Pycnodysostosis is a very rare autosomal recessive disease. This disorder presents with osteosclerosis, leading to fragile bones, short stature, craniofacial abnormalities, laryngomalacia, sleep apnea syndrome, and many other findings. Difficulty intubation is very common.
View Article and Find Full Text PDFCureus
September 2024
Department of Pediatrics, Mohammed VI University Hospital, Oujda, MAR.
Pycnodysostosis is a rare autosomal recessive bone disorder caused by mutations in the cathepsin K (CTSK) gene, characterized by increased bone density, short stature, and skeletal fragility. This study reports on two siblings from a consanguineous marriage, observed at the Mohammed VI University Hospital in Oujda, Morocco. Both patients presented with typical symptoms, including craniofacial dysmorphism and skeletal abnormalities.
View Article and Find Full Text PDFJ Pharm Bioallied Sci
April 2024
Department of Dental Surgery, Government Medical College and Hospital, Ramanathapuram, Tamil Nadu, India.
Pycnodysostosis is an inherited autosomal recessive disorder characterized by dysplasia of the skeletal system. It occurs in any human races with no disparity in gender or age predilection. The disease is diagnosed at a young age owing to the frequent fragile bone fractures.
View Article and Find Full Text PDFHorm 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 PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!