Results 51 to 60 of about 406,691 (285)

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

Ultrasonic demonstration of fetal skeletal dysplasia : case reports [PDF]

, 1985
ArticleThe original publication is available at http://www.samj.org.zaReports on prenatal diagnosis in cases of skeletal dysplasia have mostly been in high-risk mothers with a suspect genetic background where the fetal lesion could probably be ...
Cremin, B. J., Muller, L. M.
core  

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

Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia [PDF]

, 2011
Recent advances in DNA sequencing have enabled mapping of genes for monogenic traits in families with small pedigrees and even in unrelated cases. We report the identification of disease-causing mutations in a rare, severe, skeletal dysplasia, studying a
Duncan, Emma L., Graeme R Clark, Tony J. Kenna, Emma L. Duncan, Matthew A. Brown, Zankl, Andreas, Thomas Gethin P., Evgeny A. Glazov, Brown, Matthew A., Matthew A Brown, Zankl Andreas, Graeme R. Clark, Duncan, E. L., Glazov, Evgeny A., Donskoi, Marina, Kenna, Tony J., Gethin P Thomas, Glazov Evgeny A., Gethin P. Thomas, Tony J Kenna, Clark Graeme R., Marina Donskoi, Emma L Duncan, Kenna,Tony J., Clark, Graeme R., Donskoi Marina, Duncan Emma L., Thomas, Gethin P., Evgeny A Glazov, Andreas Zankl, Graeme R, Brown Matthew A., Kenna Tony J.   +32 more
core   +3 more sources

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 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

Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. [PDF]

, 2017
POP1 is a large protein common to the RNase-MRP and RNase-P (RMRP) endoribonucleoprotein complexes. Although its precise function is unknown, it appears to participate in the assembly or stability of both complexes.
Duncan, E.L., Del Pozo, A, Rivera-Pedroza, C. I., Ibáñez-Garikano, K., Ibáñez-Garikano, K, Offiah, A, Offiah, A., Cormier-Daire, V., Barraza-García, J., Barraza-García, J, Rivera-Pedroza, C I, Belinchón-Martínez, A, Duncan, E. L., Heath, K.E., Heath, K. E., Cormier-Daire, V, Clark, G. R., Belinchón-Martínez, A., Heath, K E, Hisado-Oliva, A, Rivera-Pedroza, C.I., Del Pozo, A., Hisado-Oliva, A., Prieto-Matos, P., Duncan, E L, Clark, G.R., Clark, G R, Sentchordi-Montané, L., Prieto Matos, Pablo, Sentchordi-Montané, L   +29 more
core   +1 more source

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen, Ulrik Kristoffer Stoltze, Pernille Axél Gregersen, Marianne Hoffmann, Morten Lyng Høgild, Mette Klarskov Andersen, Lise Barlebo Ahlborn, Lisa Lyngsie Hjalgrim, Karin A. W. Wadt   +8 more
wiley   +1 more source

Osteogenesis Imperfecta: A study of the patient journey in 13 European countries

Orphanet Journal of Rare Diseases
Introduction Osteogenesis imperfecta (OI) is a heritable skeletal disorder and comprises various subtypes that differ in clinical presentation, with Type I considered the least severe and Types III/IV the most severe forms.
Ingunn Westerheim, Valerie Cormier-Daire, Scott Gilbert, Sean O’Malley, Richard Keen   +4 more
doaj   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source