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1975 1
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49 results

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Page 1
Achondroplasia: Development, pathogenesis, and therapy.
Ornitz DM, Legeai-Mallet L. Ornitz DM, et al. Dev Dyn. 2017 Apr;246(4):291-309. doi: 10.1002/dvdy.24479. Epub 2017 Mar 2. Dev Dyn. 2017. PMID: 27987249 Free PMC article. Review.
Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism in humans, and related chondrodysplasia syndromes that include hypochondroplasia (Hch), severe achondroplasia with developmental delay a …
Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism in …
Hypochondroplasia.
Specht EE, Daentl DL. Specht EE, et al. Clin Orthop Relat Res. 1975 Jul-Aug;(110):249-55. doi: 10.1097/00003086-197507000-00036. Clin Orthop Relat Res. 1975. PMID: 1098822 Review.
Hypochondroplasia is a hereditary form of short-limbed dwarfism which somewhat resembles achondroplasia, but which is clinically, roentgenographically, and genetically distinct. ...Orthopedists should be aware of this entity, which may be somewhat more common than has been …
Hypochondroplasia is a hereditary form of short-limbed dwarfism which somewhat resembles achondroplasia, but which is clinically, roe …
Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update.
Lemyre E, Azouz EM, Teebi AS, Glanc P, Chen MF. Lemyre E, et al. Can Assoc Radiol J. 1999 Jun;50(3):185-97. Can Assoc Radiol J. 1999. PMID: 10405653 Review.
The authors summarize the clinical, genetic and histopathologic features, as well as the complications, and radiological diagnosis of 3 related generalized short-limb skeletal dysplasias: achondroplasia, hypochondroplasia and thanatophoric dysplasia. In all of these dyspla …
The authors summarize the clinical, genetic and histopathologic features, as well as the complications, and radiological diagnosis of 3 rela …
Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations.
Sargar KM, Singh AK, Kao SC. Sargar KM, et al. Radiographics. 2017 Oct;37(6):1813-1830. doi: 10.1148/rg.2017170017. Radiographics. 2017. PMID: 29019756 Review.
Disorders caused by type 3 mutations include achondroplasia, hypochondroplasia, thanatophoric dysplasia (TD), severe achondroplasia with developmental delay and acanthosis nigricans, Crouzonodermoskeletal syndrome, and Muenke syndrome. ...
Disorders caused by type 3 mutations include achondroplasia, hypochondroplasia, thanatophoric dysplasia (TD), severe achondroplasia w …
Growth hormone and dysmorphic syndromes.
Galasso C, Scirè G, Boscherini B. Galasso C, et al. Horm Res. 1995;44 Suppl 3:42-8. doi: 10.1159/000184673. Horm Res. 1995. PMID: 8719440 Review.
In particular, the study examines the results presented in the literature, and in a few of our cases, those obtained with regard to Noonan, Silver-Russell and Prader-Willi syndrome patients, to achondroplasia and hypochondroplasia patients, and to Down syndrome patients. F …
In particular, the study examines the results presented in the literature, and in a few of our cases, those obtained with regard to Noonan, …
Growth hormone therapy in hypochondroplasia.
Ramaswami U, Hindmarsh PC, Brook CG. Ramaswami U, et al. Acta Paediatr Suppl. 1999 Feb;88(428):116-7. doi: 10.1111/j.1651-2227.1999.tb14368.x. Acta Paediatr Suppl. 1999. PMID: 10102069 Review.
Patients with hypochondroplasia present with variable phenotypes. Children with severe short stature and disproportion of the body segments usually have the mutation Asn540Lys. ...Some children who present with proportionate short stature and hypochondroplasia fail …
Patients with hypochondroplasia present with variable phenotypes. Children with severe short stature and disproportion of the body se …
Children with short-limbed short stature in pediatric endocrinological services in Japan.
Hasegawa K, Tanaka H. Hasegawa K, et al. Pediatr Int. 2014 Dec;56(6):809-812. doi: 10.1111/ped.12511. Epub 2014 Nov 28. Pediatr Int. 2014. PMID: 25244068 Review.
Genetic testing for hypochondroplasia was conducted for only 27.7% of all hypochondroplasia patients, although hypochondroplasia is a heterogeneous condition with many causes, only one of which is FGFR3 mutation. We conducted a genetic analysis of 25 patients …
Genetic testing for hypochondroplasia was conducted for only 27.7% of all hypochondroplasia patients, although hypochondrop …
Structure, activation and dysregulation of fibroblast growth factor receptor kinases: perspectives for clinical targeting.
Farrell B, Breeze AL. Farrell B, et al. Biochem Soc Trans. 2018 Dec 17;46(6):1753-1770. doi: 10.1042/BST20180004. Epub 2018 Dec 13. Biochem Soc Trans. 2018. PMID: 30545934 Free PMC article. Review.
Dysregulation of FGFRs is also the underlying cause of many developmental dysplasias such as hypochondroplasia and achondroplasia. Accordingly, FGFRs are attractive pharmaceutical targets, and multiple clinical trials are in progress for the treatment of various FGFR aberr …
Dysregulation of FGFRs is also the underlying cause of many developmental dysplasias such as hypochondroplasia and achondroplasia. Ac …
Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature.
Muguet Guenot L, Aubert H, Isidor B, Toutain A, Mazereeuw-Hautier J, Collet C, Bourrat E, Denis Musquer M, Barbarot S; Groupe de Recherche de la Société Française de Dermatologie Pédiatrique. Muguet Guenot L, et al. Pediatr Dermatol. 2019 Mar;36(2):242-246. doi: 10.1111/pde.13748. Epub 2019 Feb 14. Pediatr Dermatol. 2019. PMID: 30762251 Review.
Early development of extensive acanthosis nigricans (AN) is a key feature in some patients who have hypochondroplasia (HCH) in association with FGFR3 mutations. We here report regarding five new patients with HCH who exhibited AN, and we compare their characteristics to th …
Early development of extensive acanthosis nigricans (AN) is a key feature in some patients who have hypochondroplasia (HCH) in associ …
A scoping review of nutrition issues and management strategies in individuals with skeletal dysplasia.
Billich N, O'Brien K, Fredwall SO, Lee M, Savarirayan R, Davidson ZE. Billich N, et al. Genet Med. 2023 Oct;25(10):100920. doi: 10.1016/j.gim.2023.100920. Epub 2023 Jun 14. Genet Med. 2023. PMID: 37330695 Review.
Across 17 diagnoses identified, most studies described osteogenesis imperfecta (n = 50) and achondroplasia or hypochondroplasia (n = 47). Nutrition-related clinical issues, biochemistry, obesity, and metabolic complications were most commonly reported, and few studies meas …
Across 17 diagnoses identified, most studies described osteogenesis imperfecta (n = 50) and achondroplasia or hypochondroplasia (n = …
49 results