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About 1,023 results

ALLMedicine™ Dwarfism Center

Research & Reviews  381 results

Experiences of Women of Short Stature During the Perinatal Period.
https://doi.org/10.1016/j.jogn.2022.03.006
Journal of Obstetric, Gynecologic, and Neonatal Nursing :... Nthenge S, Smith L et. al.

May 14th, 2022 - To explore the experiences of women of short stature, including women with dwarfism and osteogenesis imperfecta (OI), during the perinatal period. Qualitative descriptive. Telephone interviews with women of short stature from across the United Sta...

Lichenoid eruption in a child receiving growth hormone for dwarfism.
https://doi.org/10.5070/D328157061
Dermatology Online Journal; Alhameedy MM

May 3rd, 2022 - A wide variety of medications have been associated with lichenoid drug eruption. They present similarly or even identically to idiopathic lichen planus, both clinically and histologically. Lichenoid eruption has been associated with recombinant hu...

Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9009051
BMC Medical Genomics; Hettiarachchi D, Subasinghe SMV et. al.

Apr 16th, 2022 - Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II is an autosomal recessive condition encompassing a heterogeneous group of disorders characterized by symmetrical growth retardation leading to dwarfism, microcephaly, and a range of ...

Reversing the miRNA -5p/-3p stoichiometry reveals physiological roles and targets of mi...
https://doi.org/10.1261/rna.079013.121
RNA (New York, N.Y.); Young C, Caffrey M et. al.

Mar 26th, 2022 - The chondrocyte-specific miR-140 miRNAs are necessary for normal endochondral bone growth in mice. miR-140 deficiency causes dwarfism and craniofacial deformity. However, the physiologically important targets of miR-140 miRNAs are still unclear. T...

Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, ...
https://doi.org/10.1002/ajmg.a.62725
American Journal of Medical Genetics. Part A; Nerakh G, Vineeth VS et. al.

Mar 18th, 2022 - We report a patient with microcephalic primordial dwarfism with predominant Meier-Gorlin syndrome phenotype with ichthyosis and disabling multiple joint deformities in addition to classic features of the syndrome. The patient was a 10.5-year-old g...

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Drugs  2 results see all →

Clinicaltrials.gov  3 results

Non-invasive Functional Assessment and Pathogenesis of Morquio A
https://clinicaltrials.gov/ct2/show/NCT05284006

Mar 17th, 2022 - Mucopolysaccharidosis IVA (MPS IVA, Morquio A Disease) is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme, N-acetylgalactosamine 6-sulfate sulfatase (GALNS). GALNS catalyzes the degradation of the glycosaminoglyc...

Establishment of Human Cellular Disease Models for Morquio Disease
https://clinicaltrials.gov/ct2/show/NCT03872713

Apr 9th, 2021 - The mucopolysaccharidoses are a group of inherited lysosomal storage disorders. Lysosomes function as the primary digestive units within cells. Enzymes within lysosomes break down or digest particular nutrients, such as certain carbohydrates and f...

Primordial Dwarfism Registry
https://clinicaltrials.gov/ct2/show/NCT04569149

Sep 29th, 2020 - The goal of this registry is to collect information on individuals with Microcephalic Osteodysplastic Primordial Dwarfism Type II (also called MOPDII) and other forms of microcephalic primordial dwarfism. The registry will enable detailed natural ...

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News  21 results

FDA Approves Vosoritide for Children With Achondroplasia
https://www.medscape.com/viewarticle/963412

Nov 22nd, 2021 - The US Food and Drug Administration (FDA) has approved vosoritide (Voxzogo) daily injection for the treatment of children with achondroplasia, the most common form of human dwarfism. The indication is for children aged 5 years and older who have a...

FDA OKs First Drug for Most Common Form of Dwarfism
https://www.medpagetoday.com/endocrinology/growthdisorders/95786

Nov 19th, 2021 - The FDA granted accelerated approval to the first drug to spur growth in kids with the most common form of dwarfism, the agency announced on Friday. Vosoritide (Voxzogo), a once-daily injectable treatment, is indicated for children 5 years and old...

Europe Approves Biomarin Drug for Type of Dwarfism in Region's First
https://www.medscape.com/viewarticle/957381

Aug 30th, 2021 - (Reuters) - U.S.-based Biomarin Pharmaceutical Inc said on Friday the European Commission cleared its treatment for one of the most common forms of dwarfism, the first such approval in the region for a therapy to treat achondroplasia. The approval...

Success for Vosoritide Spurs Testing in More Growth Disorders
https://www.medscape.com/viewarticle/947834

Mar 22nd, 2021 - On the basis of the quality of sustained bone growth achieved with vosoritide in dwarfism, studies are underway or being considered for more diseases that impair bone growth, according to discussion that followed the presentation of a phase 3 tria...

Vosoritide Ups Height in Achondroplasia in Year-Long Phase 3 Study
https://www.staging.medscape.com/viewarticle/939744

Oct 26th, 2020 - A year of daily subcutaneous vosoritide was associated with a 0.6-inch (1.5-cm) greater increase in height than placebo in children with achondroplasia, the most common form of human dwarfism. There was no difference in the incidence of side effec...

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Patient Education  2 results see all →