Results 21 to 30 of about 11,182 (240)

Nosology of genetic skeletal disorders: 2023 revision

American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1164-1209, May 2023., 2023
Abstract The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology.
Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier‐Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti‐Furga   +20 more
wiley   +1 more source

Polyostotic Fibrous Dysplasia: A Case Report of Rarity

Cureus, 2023
A skeletal condition known as fibrous dysplasia (FD) is characterized by the replacement of healthy bone with fibrous bone tissue. One bone (monostotic) or several bones could be involved (polyostotic).
S. Wadewale, Nitin Bhola, A. Agarwal
semanticscholar   +1 more source

Degradation‐Resistant Hypoxia Inducible Factor‐2α in Murine Osteocytes Promotes a High Bone Mass Phenotype

JBMR Plus, Volume 7, Issue 4, April 2023., 2023
Osteocyte (OCY)‐specific degradation‐resistant HIF‐2α (HIF‐2α cDR) mice generated a high bone mass skeletal phenotype with increased trabecular bone and decreased cortical bone. Distal femoral metaphysis of HIF‐2α cDR mice showed evidence of bone marrow stromal tissue expansion, increased trabecular bone and new bone formation compared to cre‐negative ...
Sarah V. Mendoza, Deepa K. Murugesh, Blaine A. Christiansen, Zoe O. Genetos, Gabriela G. Loots, Damian C. Genetos, Clare E. Yellowley   +6 more
wiley   +1 more source

A Rare Case of Polyostotic Fibrous Dysplasia

International journal of science and healthcare research, 2023
This case repost discusses clinical and biochemical features of polyostotic fibrous dysplasia, a rare entity which leads to significant morbidity and multisystem manifestation in children.The diagnosis ,differentials, treatment and complications are ...
Sugha Varuna, Bharti Sapna
semanticscholar   +1 more source

Dental implantology and fibrous dysplasia: A 6‐year follow‐up case report and a literature review

Oral Surgery, Volume 16, Issue 1, Page 126-132, February 2023., 2023
Abstract Background and Aim It is unclear if fibrous dysplasia (FD) represents a contraindication for implant borne rehabilitation, and only two successful cases are reported in the literature with a 4–2‐year follow‐up. The present paper discusses this issue reporting a full‐arch maxillary rehabilitation with a >5‐year follow‐up.
Giuseppe Lizio, Gerardo Pellegrino, Giuseppe Corinaldesi, Lorenzo Ferraioli, Pietro Felice   +4 more
wiley   +1 more source

Skeletal Phenotype in Mulibrey Nanism, A Monogenic Skeletal Dysplasia With Fibrous Dysplasia. [PDF]

Clin Genet
We present a cross‐sectional detailed radiographic evaluation of the skeletal phenotype in 33 patients, aged 4.5–48 years, with Mulibrey nanism (MUL). This study confirms MUL as a skeletal dysplasia with prenatal‐onset growth failure, slender bones, vertebral changes, and a high prevalence of fibrous dysplasia and fractures.
Karlberg S, Toiviainen-Salo S, Lipsanen-Nyman M, Mäkitie O.   +3 more
europepmc   +2 more sources

Preliminary Results of Bone Lengthening over Telescopic Titanium Intramedullary Rod

Case Reports in Orthopedics, Volume 2023, Issue 1, 2023., 2023
Background. Limb lengthening and deformity correction in patients with abnormal bone associating fragility often require an approach combining methods of external and internal fixation. This study demonstrates results of simultaneous application of external fixator, and telescopic rod for femoral lengthening and deformity correction in three children ...
Eduard Mingazov, Nikita Gvozdev, Arnold Popkov, Pierre Journeau, Dmitry Popkov, Da sen Li   +5 more
wiley   +1 more source

Osteosarcomatous Transformation in Mazabraud Syndrome: A Case Report

대한영상의학회지, 2021
Mazabraud syndrome is a rare benign disease that is accompanied by polyostotic fibrous dysplasia and intramuscular myxoma. Malignant transformation of fibrous dysplasia occurs in approximately 1% of cases.
Yang Il Park, Ji Young Yoo, Joon Seog Kong   +2 more
doaj   +1 more source

Secondary amenorrhea in a case of gonadotropin independent precocious puberty: McCune-Albright syndrome [PDF]

, 2021
Precocious puberty may be gonadotropin dependent or gonadotropin independent and due to a myriad of causes including syndromic association. McCune-Albright syndrome (MAS) is a rare disorder, characterized by the triad of precocious puberty, polyostotic ...
Jayaraman, Sangumani, Natarajan, Sundari, Nazirudeen, Roshan, Subbiah, Sridhar, Vasanthiy, Vasanthiy   +4 more
core   +2 more sources

Cross-sectional evaluation of FGD-avid polyostotic fibrous dysplasia: MRI, CT and PET/MRI findings

European Journal of Hybrid Imaging, 2022
A 42-year-old male with left hip pain was diagnosed of several right femoral and tibial bone tumours. All lesions were osteolytic with sclerotic margins. The symptomatic lesion in the proximal femur also showed bone expansion and focal cortical thinning.
C. Pozzessere, F. Cicone, Paolo Barberio, Annalisa Papa, G. Coppolino, R. Biagini, G. Cascini   +6 more
semanticscholar   +1 more source