Patient with pycnodysostosisPatients with pycnodysostosisPossibly pycnodysostosisToulouse-Lautrec SyndromeShort statureFracturesFractureGeneticClinicalTypical facialDisorderDiseaseVariantManagementFeaturesFemale patient with pycnodysostosisCongenitalBone disorderClinicalCTSKOsteosclerosisRareBonesDisordersCase ReportPatientChildTime
Patient with pycnodysostosis4
- Kundu ZS, Marya KM, Devgan A, Yadav V, Rohilla S. Subtrochanteric fracture managed by intramedullary nail in a patient with pycnodysostosis. (bsl.nl)
- Yuasa T, Maeda K, Kaneko K, Yoshikata K. Total Hip Arthroplasty after treatment of an atypical subtrochanteric femoral fracture in a patient with pycnodysostosis. (bsl.nl)
- Atypical femur fractures in a patient with pycnodysostosis: a case report. (bsl.nl)
- We had a case of a middle childhood female patient with pycnodysostosis and a femur fracture. (bvsalud.org)
Patients with pycnodysostosis2
- Though elastic nailing is preferred for paediatric long bone fractures, surgeons must be prepared for extremely sclerotic cortices and a narrow medullary canal when dealing with patients with pycnodysostosis. (bvsalud.org)
- RESULTS: We describe first clinical and genetic characteristics of three Russian patients with pycnodysostosis from unrelated families. (bvsalud.org)
Possibly pycnodysostosis1
- Modern physicians attribute this to an unknown genetic disorder, possibly pycnodysostosis (sometimes known as Toulouse-Lautrec Syndrome), or a variant disorder along the lines of osteopetrosis, achondroplasia, or osteogenesis imperfecta. (artvee.com)
Toulouse-Lautrec Syndrome1
- In both the show and books, Colum suffers from Pycnodysostosis (Toulouse-Lautrec syndrome) and comes to Claire for some permanent relief for the pain. (thedipp.com)
Short stature2
- Author: Majoki "You are suffering from all the hallmarks of pycnodysostosis: fragile bones, short stature, large head, weak chin. (365tomorrows.com)
- Pycnodysostosis is characterized by short-limbed short stature, typical facial appearance (convex nasal ridge and small jaw with obtuse mandibular angle), osteosclerosis with increased bone fragility, acroosteolysis of the distal phalanges, delayed closure of the cranial sutures, and dysplasia of the clavicle. (nih.gov)
Fractures2
Fracture4
- Bor N, Rubin G, Rozen N. Fracture management in pycnodysostosis: 27 years of follow-up. (bsl.nl)
- Pycnodysostosis is a rare genetic condition that leads to generalised bony sclerosis and increased fracture risk. (bvsalud.org)
- CASE PRESENTATION: We present the case of a 4-year-old girl diagnosed with pycnodysostosis and associated pathological tibial fracture. (bvsalud.org)
- CONCLUSION: The presentation of pycnodysostosis as tibial fracture is rare and there is limited literature on its management. (bvsalud.org)
Genetic1
- Due to the limited number of exons of the CTSK gene that causes pycnodysostosis, a cheaper genetic testing called Sanger sequencing can be employed to confirm the diagnosis. (wikipedia.org)
Clinical1
- The polymorphism of the clinical manifestations of pycnodysostosis and low prevalence of the disorder lead to the difficulties with early. (bvsalud.org)
Typical facial1
- Pycnodysostosis is one of those disorders which has a typical facial gestalt and can be clinically identified in the majority of cases. (wikipedia.org)
Disorder2
- The molecular basis of pycnodysostosis was elucidated in 1996 by Gelb and collaborators and the disorder results from biallelic pathogenic mutation in CTSK gene (OMIM * 601105). (wikipedia.org)
- BACKGROUND: Pycnodysostosis is a rare autosomal recessive lysosomal disorder of bone characterized by diffuse skeletal condensation with thickening of the cortex and narrowing of the medullary canal. (bvsalud.org)
Disease3
- Pycnodysostosis (from Greek: πυκνός (puknos) meaning "dense", dys ("defective"), and ostosis ("condition of the bone")), is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. It is also known as PKND and PYCD. (wikipedia.org)
- Pycnodysostosis is a rare autosomal recessive disease with osteoarticular manifestations of great relevance in anesthetic practice. (bvsalud.org)
- Pycnodysostosis is a rare disease with very few reported cased all over the world. (bvsalud.org)
Variant1
- BACKGROUND: Pycnodysostosis (PD, OMIM # 265800) is a rare variant of skeletal dysplasia with an autosomal recessive type of inheritance, characterized by a combination of specific features such as disproportionate nanism, generalized osteosclerosis, and distinct craniofacial dysmorphism. (bvsalud.org)
Management1
- The treatment of pycnodysostosis is currently based on symptomatic management and no active trials are in place for a curative approach. (wikipedia.org)
Features1
- Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features. (bsl.nl)
Female patient with pycnodysostosis2
- Led by Professor Yrjö T. Konttinen of Helsinki University Central Hospital in Helskinki, Finland , the study involved a 55-year-old female patient with pycnodysostosis who also developed psoriatic arthritis. (medscape.com)
- We had a case of a middle childhood female patient with pycnodysostosis and a femur fracture. (bvsalud.org)
Congenital1
- Pycnodysostosis and cardiac congenital defects: a rare association. (escardio.org)
Bone disorder1
- Pycnodysostosis is a rare recessive autosomal bone disorder. (jomos.org)
Clinical3
- Pycnodysostosis should be suspected in probands with the following clinical, radiographic, and laboratory findings. (nih.gov)
- Two clinical cases of pycnodysostosis with typical maxillofacial complications are presented. (jomos.org)
- Çapan E, Turan S, Kılıçoğlu H. Clinical And Cephalometric Analysis Of Three Cases With Pycnodysostosis (Case Report). (lingualortodontidernegi.org.tr)
CTSK1
- The molecular basis of pycnodysostosis was elucidated in 1996 by Gelb and collaborators and the disorder results from biallelic pathogenic mutation in CTSK gene (OMIM * 601105). (wikipedia.org)
Osteosclerosis1
- Formal diagnostic criteria for pycnodysostosis have not been established, however the radiographic features of acroosteolysis, osteosclerosis, and loss of the normal angle of the jaw are almost pathognomonic. (nih.gov)
Rare1
- Born into the aristocracy , Toulouse-Lautrec broke both his legs around the time of his adolescence and, due to the rare condition pycnodysostosis , was very short as an adult due to his undersized legs. (sartle.com)
Bones1
- She died after a few hours and histopathological studies identified extramedullary haematopoiesis in the liver, little lamellar bone formation, decreased osteoclasts, abnormally thickened bony trabeculae with retained cartilage in long bones, and diminished marrow spaces similar to those seen in dense bone diseases such as osteopetrosis and pycnodysostosis. (bmj.com)
Disorders1
- Pycnodysostosis is one of those disorders which has a typical facial gestalt and can be clinically identified in the majority of cases. (wikipedia.org)
Case Report1
- 34. A Case Report of Pycnodysostosis Associated with Multiple Pituitary Hormone Deficiencies and Response to Treatment. (nih.gov)
Patient1
- Cite this: Erosive Arthritis in a Patient With Pycnodysostosis - Medscape - Nov 01, 2008. (medscape.com)
Child1
- 37. Novel mutation and white matter involvement in an Indian child with pycnodysostosis. (nih.gov)
Time1
- Pycnodysostosis also causes problems that may become evident with time. (wikipedia.org)