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About 105 results

ALLMedicine™ Diastrophic Dysplasia Center

Research & Reviews  51 results

3D printed models can guide safe halo pin placement in patients with diastrophic dyspla...
https://doi.org/10.1007/s43390-020-00269-0 10.1097/BPB.0b013e32836486b6 10.1016/j.jspd.2018.06.013 10.1097/01.brs.0000153707.80497.a2 10.1097/BPO.0000000000001379 10.1007/s11832-007-0065-x 10.1016/j.jspd.2012.09.003 10.1007/s00586-011-2046-5 10.1007/s00776-010-1523-8 10.1097/BRS.0b013e318184ef79 10.1007/s11832-016-0721-0 10.1186/s12938-017-0421-0 10.1097/BPB.0000000000000411
Spine Deformity; Sidhu VS, Cheng TL et. al.

Jan 19th, 2021 - To trial the use of three-dimensional (3D) printed skull models to guide safe pin placement in two patients with diastrophic dysplasia (DTD) requiring prolonged pre-fusion halo-gravity traction (HGT). Two sisters aged 8 (ML) and 4 (BL) with DTD we...

Atelosteogenesis Type 2 - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/ao2/

Sep 23rd, 2020 - Clinical features of atelosteogenesis type 2 (AO2) include rhizomelic limb shortening with normal-sized skull, hitchhiker thumbs, small chest, protuberant abdomen, cleft palate, and distinctive facial features (midface retrusion, depressed nasal b...

Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compo...
https://doi.org/10.1016/j.ejmg.2018.11.007
European Journal of Medical Genetics; Kausar M, Mäkitie RE et. al.

Nov 13th, 2018 - Pathogenic sequence variants in the solute carrier family 26 member 2 (SLC26A2) gene result in lethal (achondrogenesis Ib and atelosteogenesis II) and non-lethal (diastrophic dysplasia and recessive multiple epiphyseal dysplasia, rMED) chondrodysp...

Diastrophic Dysplasia
https://emedicine.medscape.com/article/1257787-overview

Apr 29th, 2018 - Background Skeletal dysplasias are a heterogeneous group of dysplasias that include more than 200 recognized conditions. They are disorders of growth and remodeling of bone and cartilage. Most disorders result in short stature, which is defined as...

Polyethylene Glycol-Poly-Lactide-co-Glycolide Block Copolymer-Based Nanoparticles as a ...
https://doi.org/10.1016/j.xphs.2017.08.004
Journal of Pharmaceutical Sciences; Chiesa E, Monti L et. al.

Aug 22nd, 2017 - Potential off-label therapeutic role of N-acetylcysteine (N-Ac) was recently demonstrated in the treatment of diastrophic dysplasia (DTD) using mutant mice; its main drawback is the rapid clearance from blood due to the liver metabolism. Our goal ...

see more →

Clinicaltrials.gov  53 results

3D printed models can guide safe halo pin placement in patients with diastrophic dyspla...
https://doi.org/10.1007/s43390-020-00269-0 10.1097/BPB.0b013e32836486b6 10.1016/j.jspd.2018.06.013 10.1097/01.brs.0000153707.80497.a2 10.1097/BPO.0000000000001379 10.1007/s11832-007-0065-x 10.1016/j.jspd.2012.09.003 10.1007/s00586-011-2046-5 10.1007/s00776-010-1523-8 10.1097/BRS.0b013e318184ef79 10.1007/s11832-016-0721-0 10.1186/s12938-017-0421-0 10.1097/BPB.0000000000000411
Spine Deformity; Sidhu VS, Cheng TL et. al.

Jan 19th, 2021 - To trial the use of three-dimensional (3D) printed skull models to guide safe pin placement in two patients with diastrophic dysplasia (DTD) requiring prolonged pre-fusion halo-gravity traction (HGT). Two sisters aged 8 (ML) and 4 (BL) with DTD we...

Atelosteogenesis Type 2 - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/ao2/

Sep 23rd, 2020 - Clinical features of atelosteogenesis type 2 (AO2) include rhizomelic limb shortening with normal-sized skull, hitchhiker thumbs, small chest, protuberant abdomen, cleft palate, and distinctive facial features (midface retrusion, depressed nasal b...

Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compo...
https://doi.org/10.1016/j.ejmg.2018.11.007
European Journal of Medical Genetics; Kausar M, Mäkitie RE et. al.

Nov 13th, 2018 - Pathogenic sequence variants in the solute carrier family 26 member 2 (SLC26A2) gene result in lethal (achondrogenesis Ib and atelosteogenesis II) and non-lethal (diastrophic dysplasia and recessive multiple epiphyseal dysplasia, rMED) chondrodysp...

Diastrophic Dysplasia
https://emedicine.medscape.com/article/1257787-overview

Apr 29th, 2018 - Background Skeletal dysplasias are a heterogeneous group of dysplasias that include more than 200 recognized conditions. They are disorders of growth and remodeling of bone and cartilage. Most disorders result in short stature, which is defined as...

Polyethylene Glycol-Poly-Lactide-co-Glycolide Block Copolymer-Based Nanoparticles as a ...
https://doi.org/10.1016/j.xphs.2017.08.004
Journal of Pharmaceutical Sciences; Chiesa E, Monti L et. al.

Aug 22nd, 2017 - Potential off-label therapeutic role of N-acetylcysteine (N-Ac) was recently demonstrated in the treatment of diastrophic dysplasia (DTD) using mutant mice; its main drawback is the rapid clearance from blood due to the liver metabolism. Our goal ...

see more →

Patient Education  1 results see all →