Results 41 to 50 of about 67,445 (255)

Bleeding assessment in a large cohort of patients with Osteogenesis Imperfecta

Orphanet Journal of Rare Diseases
Background Osteogenesis Imperfecta (OI) is characterised by bone fragility. Among several features, easy bruising and multiple case reports on haemorrhagic events have been reported.
Koert Gooijer, Gabriëla Heidsieck, Arjan Harsevoort, Daniëlle Bout, Guus Janus, Anton Franken   +5 more
doaj   +1 more source

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell, Ebuka Onyenobi, Joshua P. Lewis, Brady Gaynor, James A. Perry, Kristin Maloney, Jeffrey R. O'Connell, Jessica Tiner, Amber L. Beitelshees, Cristopher V. Van Hout, Patrick F. McArdle, Huichun Xu, Erik G. Puffenberger, Karlla W. Brigatti, Melanie Daue, Hilary B. Whitlatch, Anna Alkelai, Alejandro A. Schäffer, John Overton, Elizabeth A. Streeten, Toni I. Pollin, Alan R. Shuldiner   +21 more
wiley   +1 more source

Early life functional transitions impact craniofacial morphology in osteogenesis imperfecta

The Anatomical Record, EarlyView.
Abstract Early life behaviors have a profound role in shaping adult craniofacial morphology. During early life, all mammals undergo the dynamic transition from suckling to mastication, a period coinciding with rapid cranial biomineralization. Osteogenesis imperfecta (OI), a genetic disorder that impacts the production of type I collagen, disrupts ...
Courtney A. Miller, Tanusha Emanuel, Rachel A. Menegaz   +2 more
wiley   +1 more source

Somewhere to go: a position paper on addressing gaps in transition care for adults with childhood-onset rare diseases

Orphanet Journal of Rare Diseases
Adults with childhood-onset rare disease face many challenges when transitioning from pediatric services to adult care. While they often received specialized pediatric care, the adult healthcare system provides few resources for those whose rare disease ...
Laura L. Tosi, Tracy S. Hart, Gabriela Beug, Erika Carter, Eleanor M. Perfetto   +4 more
doaj   +1 more source

Osteogenesis imperfecta Type XI: A rare cause of severe infantile cervical kyphosis

Radiology Case Reports, 2020
Osteogenesis imperfecta is a genetic disorder by bone fragility and decreased bone density. Ligamentous laxity is also a feature. We present a case report of a very young, nonmobile infant of 5 months who initially presented with a tibial fracture, and ...
Jane L. Ferguson, MBBS, BSc, MRCP, FRCR, Susan R.J. Burrows, MBBS, FRCR   +1 more
doaj   +1 more source

Human interparietal bones: Examination of existing classification schemes and development of a graphic library depicting variations

The Anatomical Record, EarlyView.
Examples from the graphic library depicting morphologies of interparietal bones, ossicles at lambda, mendosal sutures, and intrasutural ossicles. Abstract Due to its complex ossification during development, the superior region of the human occipital bone is a frequent site of supernumerary bones known as interparietal bones.
Melissa D. Clarkson, Rhian R. Dunn, Joseph T. Hefner, Holly A. Long, Micayla C. Spiros   +4 more
wiley   +1 more source

Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta

BMC Medical Genetics, 2011
Background Mutations in the FKBP10 gene were first described in patients with Osteogenesis imperfecta type III. Two follow up reports found FKBP10 mutations to be associated with Bruck syndrome type 1, a rare disorder characterized by congenital ...
Steinlein Ortrud K, Aichinger Eric, Trucks Holger, Sander Thomas   +3 more
doaj   +1 more source

Uncovering the role of genetic polymorphisms in cervical insufficiency

International Journal of Gynecology &Obstetrics, EarlyView.
Pathways and genes implicated in CI pathogenesis. Abstract Cervical insufficiency (CI) is characterized by spontaneous dilation of the cervix in the absence of painful uterine contractions in the mid‐trimester, leading to premature delivery. It is responsible for up to 20% of second trimester pregnancy losses, mostly <24 weeks.
Kallirhoe Kalinderi, Michail Kalinderis, Maria Chatzidimitriou, Liana Fidani   +3 more
wiley   +1 more source

The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers

Orphanet Journal of Rare Diseases
Background Osteogenesis imperfecta (OI) is a rare, heritable connective tissue disorder associated with a variety of symptoms, that affect individuals’ quality of life (QoL) and can be associated with increased healthcare resource use. While some aspects
Ingunn Westerheim, Tracy Hart, Taco van Welzenis, Lena Lande Wekre, Oliver Semler, Cathleen Raggio, Michael B. Bober, Maria Rapoport, Samantha Prince, Frank Rauch   +9 more
doaj   +1 more source

CLINICAL CASE OF RARE TYPE V OSTEOGENESIS IMPERFECTA

Педиатрическая фармакология, 2015
Osteogenesis imperfecta, also known as the brittle bone disease, is a clinically heterogenic hereditary connective tissue disease characterized by brittle bones and high risk of skeletal bone fractures.
G. T. Yakhyayeva, T. V. Margieva, L. S. Namazova-Baranova, K. V. Savostyanov, A. A. Pushkov, N. V. Zhurkova, K. V. Zherdev, N. D. Vashakmadze, A. K. Gevorkyan   +8 more
doaj   +1 more source