Results 51 to 60 of about 385,840 (284)

Case of Monostotic Fibrous Dysplasia in the hand [PDF]

, 2002
A case of monostotic fibrous dysplasia in the proximal phalanx of an otherwise healthy, twenty-five year old is discussed. Fibrous dysplasia in the hand is rarely seen. Our patient presented with a swelling in his proximal phalanx.
Sciberras, Carmel, Zammit, Jason, Attard, Gerhardt   +2 more
core  

Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis

, 2023
Skeletal dysplasias are a heterogeneous collection of genetic disorders characterized by bone and cartilage abnormalities, and they encompass over 400 disorders.
Grigelioniene, G,, Handa, Atsuhiko,, Nishimura, G, Grigelioniene, Giedre,, Nishimura, Gen,, Handa, A   +5 more
core   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Identification of a New Variant of the MBTPS1 Gene of the Kondo-Fu Type of Spondyloepiphyseal Dysplasia (SEDKF) in a Saudi Patient

Case Reports in Pediatrics, 2022
Spondyloepiphyseal dysplasia (SEDKF) is a rare skeletal dysplasia associated with kyphosis and low bone mineral density, significantly delayed growth, and skeletal deformities.
Maha Alotaibi, Ali Aldossari, Imran Khan, Leena Alotaibi   +3 more
doaj   +1 more source

Elastic scattering spectroscopy accurately detects high grade dysplasia and cancer in Barrett's oesophagus [PDF]

, 2006
Background and aims: Endoscopic surveillance of Barrett’s oesophagus currently relies on multiple random biopsies. This approach is time consuming, has a poor diagnostic yield, and significant interobserver variability. Elastic scattering spectroscopy is
Lovat, L.B., Bigio, I., Johnson, K., Davies, S., Thorpe, S.M., Bown, S.G., Fitzgerald, R., Clark, B.R., Novelli, M.R., Mackenzie, G.D., Pickard, D., Fearn, T., Selvasekar, C., O’Donovan, M.   +13 more
core  

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh, Arpita Neogi, Liliane H. Gibbs, Jagdish Soni, Elizabeth Chao, Virginia Kimonis   +5 more
wiley   +1 more source

Best practice guidelines for management of spinal disorders in skeletal dysplasia

Orphanet Journal of Rare Diseases, 2020
Background Disorders of the spine present a common and difficult management concern in patients with skeletal dysplasia. Due to the rarity of these conditions however, the literature, largely consisting of small, single institution case series, is sparse
Klane K. White, Michael B. Bober, Tae-Joon Cho, Michael J. Goldberg, Julie Hoover-Fong, Melita Irving, Shawn E. Kamps, William G. Mackenzie, Cathleen Raggio, Samantha A. Spencer, Viviana Bompadre, Ravi Savarirayan, on behalf of the Skeletal Dysplasia Management Consortium   +12 more
doaj   +1 more source

Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1

, 2008
Schimke immuno-osseous dysplasia (OMIM 242900) is an uncommon autosomal-recessive multisystem disease caused by mutations in SMARCAL1 (swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1), a gene encoding a ...
Hirano, R., Fujita, Y., Kanemura, Y., Deguchi, K., Sloan, E.A., Clewing, J.M., Lou, S., Choi, K., Powell, R., Northrop, J., Elizondo, L.I., Inoue, K., SantaCruz, K., Boerkoel, C.F., Huang, C., Willaime-Morawek, S., van der Kooy, D., Marwedel, K.M., Okano, H., Armstrong, D.L., Lucke, T.   +20 more
core   +1 more source

LTBP3 Frameshift Variant in British Shorthair Cats with Complex Skeletal Dysplasia [PDF]

, 2021
We investigated a highly inbred family of British Shorthair cats in which two offspring were affected by deteriorating paraparesis due to complex skeletal malformations.
Rudd Garces, Gabriela, Theresa Störk, Vidhya Jagannathan, Holger A. Volk, Marion Hewicker-Trautwein, Störk, Theresa, Kirsten Hülskötter, Hülskötter, Kirsten, Tosso Leeb, Gabriela Rudd Garces, Knebel, Anna, Jagannathan, Vidhya, Leeb, Tosso, Hewicker Trautwein, Marion, Anna Knebel, Hewicker-Trautwein, Marion, Volk, Holger A.   +16 more
core   +2 more sources

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source