Results 61 to 70 of about 385,840 (284)

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

Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia

Orphanet Journal of Rare Diseases, 2021
Background Recognition and appropriate management of the craniofacial manifestations of patients with skeletal dysplasia are challenging, due to the rarity of these conditions, and dearth of literature to support evidence-based clinical decision making ...
Ravi Savarirayan, David E. Tunkel, Laura M. Sterni, 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, Klane K. White, on behalf of the Skeletal Dysplasia Management Consortium   +14 more
doaj   +1 more source

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

Pelvic radiograph in skeletal dysplasias: An approach

Indian Journal of Radiology and Imaging, 2017
The bony pelvis is constituted by the ilium, ischium, pubis, and sacrum. The pelvic radiograph is an important component of the skeletal survey performed in suspected skeletal dysplasia.
Manisha Jana, Nikhil Nair, Arun K Gupta, Madhulika Kabra, Neerja Gupta   +4 more
doaj   +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

Novel Physique Index for the Screening of Skeletal Dysplasia at Birth

Children, 2021
This study aimed to devise a novel physique index and investigate its accuracy in identifying newborns with skeletal dysplasia in comparison with head circumference (HC)/height (HT) ratio.
Ryoji Aoki, Nobuhiko Nagano, Aya Okahashi, Shoko Ohashi, Yoshinori Fujinaka, Itsuro Takigawa, Ken Masunaga, Ichiro Morioka   +7 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

Prenatal diagnosis of recurrent moderate skeletal dysplasias in lamin B receptors

Frontiers in Genetics, 2023
The lamin B receptor (LBR) gene is located in chromosome 1q42.12 and encodes the lamin B receptor, an intracellular protein that binds to lamin B. LBR mutations are associated with a broad phenotypic spectrum ranging from non-lethal to lethal skeletal ...
Xueping Shen, Zhi Li, Xuekui Pan, Juan Yao, Guosong Shen, Su Zhang, Minyue Dong, Minyue Dong, Lihong Fan   +8 more
doaj   +1 more source

Rapid-throughput skeletal phenotyping of 100 knockout mice identifies 9 new genes that determine bone strength [PDF]

, 2012
Osteoporosis is a common polygenic disease and global healthcare priority but its genetic basis remains largely unknown. We report a high-throughput multi-parameter phenotype screen to identify functionally significant skeletal phenotypes in mice ...
Gogakos Apostolos, Campbell, MJ, Anne H. van der Spek (145990), Campbell Michael J., Gogakos, A, Sunter, D, Williams, GR, David Sunter, Bassett, JHD, Boyde, A, Michael J. Campbell (5833), Sunter, D., Richard M Jacques, Project, S.M.G., Alan Boyde (146008), Croucher Peter I., Ramirez-Solis, R, Williams, G.R., Richard M. Jacques (145985), van der Spek Anne H., Holly Evans (145980), Bassett, J.H.D., Ryder, E, Edward Ryder (145998), Peter I. Croucher (146016), Graham R Williams, Evans, H, Bassett J. H. Duncan, Jacques, RM, Anne H van der Spek, J. H. Duncan Bassett (145971), Croucher, PI, Peter I Croucher, Project, SMG, Ryder, E., David Sunter (146002), Holly Evans, Gogakos, A., Jacqueline K. White (119191), Apostolos Gogakos (145975), Ramirez-Solis, R., Jacqueline K White, White Jacqueline K., Boyde, A., van der Spek, A.H., Evans, H., Michael J Campbell, Ramirez-Solis Ramiro, White, J.K., Jacques, R.M., J H Duncan Bassett, Apostolos Gogakos, Jacques Richard M., Croucher, P.I., Ryder Edward, Graham R. Williams (20148), Campbell, M.J., Evans Holly, Ramiro Ramirez-Solis (119181), Williams Graham R., Ramiro Ramirez-Solis, Edward Ryder, Alan Boyde, van der Spek, AH, Sanger Mouse Genetics Project, Sunter David, White, JK, Boyde Alan   +67 more
core   +1 more source

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger, Periyasamy Radhakrishnan, Suma Balan, Anand P. Rao, Prajna Udupa, Karthik Vijay Nair, Bhagesh Hunakunti, Adarsh Pooradan Prasannakumar, Sanket Limaye, Huzail Gani Shaikh, Rohit Naik, Mahesh Janarthanan, Sudharshan Sridharan, Vishal Sondhi, Sheela Nampoothiri, Hitesh Shah, Sabrinath Mahadevan, Mahabaleshwar Mamadapur, Devang Pandya, Katta Mohan Girisha, Abhay Shivpuri, Amita Moirangthem, Jyothi Raghuram, Gandham Sri Lakshmi Bhavani, Sachin Jeevanagi, Girish Subramaniam, Amita Aggarwal, Anju Shukla, Dhanya Lakshmi Narayanan   +28 more
wiley   +1 more source