Search Results - "ACHONDROPLASIA"

Prevalence of low birth weight, short length, and body disproportion at birth in patients with skeletal dysplasias: A retrospective study.

Transliterated Title: Prevalencia de bajo peso, baja longitud y desproporción corporal al nacer en pacientes con displasias esqueléticas. Estudio retrospectivo.

Authors: Chiaramonte SS Del Pino M Fano V

Source: Archivos argentinos de pediatria [Arch Argent Pediatr] 2025 Dec 01; Vol. 123 (6), pp. e202510663. Date of Electronic Publication: 2025 Jul 17.

Publication Type: Journal Article

Journal Info: Publisher: Sociedad Argentina de Pediatría Country of Publication: Argentina NLM ID: 0372460 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1668-3501 (Electronic) Linking ISSN: 03250075 NLM ISO Abbreviation: Arch Argent Pediatr Subsets: MEDLINE

MeSH Terms: Achondroplasia*/epidemiology , Achondroplasia*/diagnosis , Achondroplasia*/genetics , Infant, Low Birth Weight* , Dwarfism*/epidemiology , Dwarfism*/diagnosis , Dwarfism*/genetics , Body Height* , Lordosis*/epidemiology , Lordosis*/diagnosis , Limb Deformities, Congenital*/epidemiology , Limb Deformities, Congenital*/diagnosis, Humans ; Retrospective Studies ; Female ; Infant, Newborn ; Prevalence ; Male ; Bone and Bones/abnormalities

SCR Disease Name: Hypochondroplasia

Achondroplasia and hypochondroplasia in France: a nationwide epidemiological analysis.

Authors: Baujat G Hamandjian MA Jannot AS et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Nov 03; Vol. 20 (1), pp. 555. Date of Electronic Publication: 2025 Nov 03.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

MeSH Terms: Achondroplasia*/epidemiology , Achondroplasia*/genetics , Dwarfism*/epidemiology , Dwarfism*/genetics , Lordosis*/epidemiology , Lordosis*/genetics , Limb Deformities, Congenital*/epidemiology , Limb Deformities, Congenital*/genetics , Bone and Bones*/abnormalities, Humans ; Female ; France/epidemiology ; Male ; Child ; Adolescent ; Retrospective Studies ; Receptor, Fibroblast Growth Factor, Type 3/genetics ; Child, Preschool ; Infant ; Prevalence ; Adult

SCR Disease Name: Hypochondroplasia

Young Adults With Achondroplasia, Self-Esteem, and Wellbeing: Examining the Impact of Dance Sessions and Augmented Dance Sessions.

Authors: Pandya SP; Tata Institute of Social Sciences, Mumbai, India.

Source: Creative nursing [Creat Nurs] 2025 Nov; Vol. 31 (4), pp. 353-367. Date of Electronic Publication: 2024 Oct 17.

Publication Type: Journal Article

Journal Info: Publisher: SAGE Publications Country of Publication: United States NLM ID: 9505022 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1946-1895 (Electronic) Linking ISSN: 10784535 NLM ISO Abbreviation: Creat Nurs Subsets: MEDLINE

MeSH Terms: Self Concept* , Achondroplasia*/psychology , Achondroplasia*/nursing , Dancing*/psychology, Humans ; Female ; Male ; Young Adult ; Adult ; Adolescent

Body composition, anthropometry, and resting energy expenditure in adults with achondroplasia: a pilot study to determine best practices.

Authors: Schulze K McGready J Barron B et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Oct 21; Vol. 20 (1), pp. 527. Date of Electronic Publication: 2025 Oct 21.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

MeSH Terms: Body Composition*/physiology , Achondroplasia*/metabolism , Achondroplasia*/physiopathology , Anthropometry*/methods , Energy Metabolism*/physiology, Humans ; Female ; Male ; Pilot Projects ; Adult ; Middle Aged ; Absorptiometry, Photon ; Electric Impedance

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy.

Authors: Schwartz VR Schelhaas A Duker AL et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Oct; Vol. 197 (10), pp. e64136. Date of Electronic Publication: 2025 May 30.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

MeSH Terms: Achondroplasia*/genetics , Achondroplasia*/mortality , Achondroplasia*/diagnosis , Heterozygote*, Humans ; Female ; Male ; Infant ; Quality of Life

Dynamic MRI in the Evaluation of the Cervical Spine in Pediatric Patients With Achondroplasia.

Authors: Masarwy A Tuchman A Huang J et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Oct; Vol. 197 (10), pp. e64143. Date of Electronic Publication: 2025 Jun 04.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

MeSH Terms: Achondroplasia*/diagnostic imaging , Achondroplasia*/pathology , Achondroplasia*/physiopathology , Magnetic Resonance Imaging*/methods , Cervical Vertebrae*/diagnostic imaging , Cervical Vertebrae*/pathology, Humans ; Female ; Male ; Child ; Child, Preschool ; Adolescent ; Retrospective Studies ; Foramen Magnum/diagnostic imaging ; Foramen Magnum/pathology ; Infant

TACC3 facilitates chondrocyte differentiation by attenuating abnormally activated FGFR3 signaling in achondroplasia - An in vitro study.

Authors: Li X Bao L Wang X et al.

Source: Tissue & cell [Tissue Cell] 2025 Oct; Vol. 96, pp. 102940. Date of Electronic Publication: 2025 Apr 30.

Publication Type: Journal Article

Journal Info: Publisher: Churchill Livingstone Country of Publication: Scotland NLM ID: 0214745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-3072 (Electronic) Linking ISSN: 00408166 NLM ISO Abbreviation: Tissue Cell Subsets: MEDLINE

MeSH Terms: Receptor, Fibroblast Growth Factor, Type 3*/metabolism , Receptor, Fibroblast Growth Factor, Type 3*/genetics , Achondroplasia*/pathology , Achondroplasia*/genetics , Achondroplasia*/metabolism , Cell Differentiation*/genetics , Chondrocytes*/metabolism , Chondrocytes*/pathology , Signal Transduction*, Animals ; Mice ; Cell Line ; Mutation/genetics

The Value of Enhancing Sonographic Phenotyping to Improve the Diagnostic Yield of Noninvasive Prenatal Diagnosis (NIPD) for Achondroplasia.

Authors: Verebi C Gravrand V Guerini C et al.

Source: Prenatal diagnosis [Prenat Diagn] 2025 Oct; Vol. 45 (11), pp. 1433-1441. Date of Electronic Publication: 2025 Aug 13.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

MeSH Terms: Achondroplasia*/diagnosis , Achondroplasia*/diagnostic imaging , Achondroplasia*/genetics , Ultrasonography, Prenatal*/methods , Noninvasive Prenatal Testing*/methods , Noninvasive Prenatal Testing*/statistics & numerical data, Humans ; Female ; Pregnancy ; Retrospective Studies ; Phenotype ; Adult ; Receptor, Fibroblast Growth Factor, Type 3/genetics ; Receptor, Fibroblast Growth Factor, Type 3/blood ; Cohort Studies

Efficacy and Safety of Oral Meclizine for Growth Promotion in Children with Achondroplasia: A Phase 2 Clinical Trial.

Authors: Matsushita M Kitoh H Kubota T et al.

Source: Calcified tissue international [Calcif Tissue Int] 2025 Dec 01; Vol. 116 (1), pp. 143. Date of Electronic Publication: 2025 Dec 01.

Publication Type: Journal Article; Clinical Trial, Phase II; Multicenter Study

Journal Info: Publisher: Springer Verlag Country of Publication: United States NLM ID: 7905481 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-0827 (Electronic) Linking ISSN: 0171967X NLM ISO Abbreviation: Calcif Tissue Int Subsets: MEDLINE

MeSH Terms: Achondroplasia*/drug therapy , Meclizine*/therapeutic use , Meclizine*/administration & dosage , Meclizine*/adverse effects, Humans ; Child ; Child, Preschool ; Male ; Female ; Treatment Outcome ; Administration, Oral ; Body Height/drug effects

[Clinical features and variant spectrum of FGFR3 -related disorders].

Authors: Gu SL Ying LW Chang GY et al.

Source: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics [Zhongguo Dang Dai Er Ke Za Zhi] 2025 Oct 15; Vol. 27 (10), pp. 1259-1265.

Publication Type: English Abstract; Journal Article

Journal Info: Publisher: Zhongguo dang dai er ke za zhi she Country of Publication: China NLM ID: 100909956 Publication Model: Print Cited Medium: Print ISSN: 1008-8830 (Print) Linking ISSN: 10088830 NLM ISO Abbreviation: Zhongguo Dang Dai Er Ke Za Zhi Subsets: MEDLINE

MeSH Terms: Receptor, Fibroblast Growth Factor, Type 3*/genetics , Dwarfism*/genetics , Achondroplasia*/genetics , Lordosis*/genetics , Bone and Bones*/abnormalities, Humans ; Child ; Male ; Child, Preschool ; Female ; Infant ; Adolescent ; Infant, Newborn ; Retrospective Studies ; Genetic Association Studies ; Phenotype ; Limb Deformities, Congenital

SCR Disease Name: Hypochondroplasia

From Protein Misfolding to Extracellular Matrix Disorganisation: Understanding Disease Pathology in Rare Skeletal Dysplasias.

Authors: Dennis EP Briggs MD

Source: International journal of molecular sciences [Int J Mol Sci] 2025 Oct 15; Vol. 26 (20). Date of Electronic Publication: 2025 Oct 15.

Publication Type: Journal Article; Review

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

MeSH Terms: Extracellular Matrix*/metabolism , Extracellular Matrix*/pathology , Osteochondrodysplasias*/metabolism , Osteochondrodysplasias*/pathology , Osteochondrodysplasias*/genetics , Achondroplasia*/metabolism , Achondroplasia*/pathology , Achondroplasia*/genetics , Protein Folding*, Humans ; Cartilage Oligomeric Matrix Protein/genetics ; Cartilage Oligomeric Matrix Protein/metabolism ; Animals ; Matrilin Proteins/genetics ; Matrilin Proteins/metabolism ; Chondrocytes/metabolism ; Chondrocytes/pathology ; Extracellular Matrix Proteins/metabolism ; Extracellular Matrix Proteins/genetics ; Growth Plate/metabolism ; Growth Plate/pathology ; Mutation

SCR Disease Name: Pseudoachondroplasia

Anesthetic Management of Parturients With Achondroplasia During Labor and Delivery: A Narrative Review.

Authors: Dumitrascu CI Eneh PN Keim AA et al.

Source: Anesthesia and analgesia [Anesth Analg] 2025 Oct 01; Vol. 141 (4), pp. 779-792. Date of Electronic Publication: 2025 Feb 04.

Publication Type: Journal Article; Review

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 1310650 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-7598 (Electronic) Linking ISSN: 00032999 NLM ISO Abbreviation: Anesth Analg Subsets: MEDLINE

MeSH Terms: Achondroplasia*/complications , Achondroplasia*/diagnosis , Anesthesia, Obstetrical*/methods , Anesthesia, Obstetrical*/adverse effects , Cesarean Section*/adverse effects , Cesarean Section*/methods , Labor, Obstetric* , Delivery, Obstetric*/methods , Pregnancy Complications*/diagnosis, Humans ; Female ; Pregnancy ; Anesthesia, Epidural/adverse effects ; Anesthesia, Spinal/adverse effects

Real-world safety and age-dependent effectiveness of vosoritide in achondroplasia: A single-center retrospective analysis of transition from growth hormone to vosoritide.

Authors: Shimada T Nakayama H Ueda I et al.

Source: Bone [Bone] 2026 Feb; Vol. 203, pp. 117722. Date of Electronic Publication: 2025 Nov 11.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Science Country of Publication: United States NLM ID: 8504048 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2763 (Electronic) Linking ISSN: 18732763 NLM ISO Abbreviation: Bone Subsets: MEDLINE

MeSH Terms: Achondroplasia*/drug therapy , Natriuretic Peptide, C-Type*/therapeutic use , Natriuretic Peptide, C-Type*/adverse effects , Human Growth Hormone*/therapeutic use, Humans ; Retrospective Studies ; Male ; Female ; Child ; Child, Preschool ; Treatment Outcome ; Body Height/drug effects ; Age Factors ; Adolescent

Changes in the Alignment of the Spine and Lower Limb in Children With Achondroplasia Treated With Vosoritide: A Single-center, 1-year Follow-up Prospective Study.

Authors: Sawamura K Kitoh H Kamiya Y et al.

Source: Journal of pediatric orthopedics [J Pediatr Orthop] 2025 Sep 01; Vol. 45 (8), pp. 519-524. Date of Electronic Publication: 2025 Apr 15.

Publication Type: Journal Article

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8109053 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1539-2570 (Electronic) Linking ISSN: 02716798 NLM ISO Abbreviation: J Pediatr Orthop Subsets: MEDLINE

MeSH Terms: Achondroplasia*/drug therapy , Achondroplasia*/diagnostic imaging , Lower Extremity*/diagnostic imaging , Spine*/drug effects , Spine*/diagnostic imaging , Bone Density Conservation Agents*/therapeutic use, Humans ; Prospective Studies ; Male ; Female ; Follow-Up Studies ; Child ; Child, Preschool ; Adolescent ; Treatment Outcome ; Radiography

Health State Utilities for Achondroplasia: A Time Trade-Off Study.

Authors: Mighiu C Morgan G Bharali R et al.

Source: Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research [Value Health] 2025 Sep; Vol. 28 (9), pp. 1408-1416. Date of Electronic Publication: 2025 Jun 13.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 100883818 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1524-4733 (Electronic) Linking ISSN: 10983015 NLM ISO Abbreviation: Value Health Subsets: MEDLINE

MeSH Terms: Achondroplasia*/psychology , Achondroplasia*/economics , Quality of Life* , Health Status*, Humans ; Adolescent ; Child ; Male ; Child, Preschool ; Female ; Adult ; Middle Aged ; Young Adult ; United States ; United Kingdom ; Aged ; Time Factors ; Age Factors

Real-World Safety and Effectiveness of Vosoritide in Achondroplasia: Results from a Single Center in Portugal.

Authors: Rua IB Silva I Beger C et al.

Source: Advances in therapy [Adv Ther] 2025 Aug; Vol. 42 (8), pp. 3726-3742. Date of Electronic Publication: 2025 Jun 05.

Publication Type: Journal Article

Journal Info: Publisher: Health Communications Inc Country of Publication: United States NLM ID: 8611864 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1865-8652 (Electronic) Linking ISSN: 0741238X NLM ISO Abbreviation: Adv Ther Subsets: MEDLINE

MeSH Terms: Achondroplasia*/drug therapy , Achondroplasia*/genetics , Natriuretic Peptide, C-Type*/therapeutic use , Natriuretic Peptide, C-Type*/adverse effects , Natriuretic Peptide, C-Type*/analogs & derivatives, Humans ; Child ; Male ; Female ; Portugal ; Retrospective Studies ; Child, Preschool ; Adolescent ; Treatment Outcome

An AI-assisted tool for automated growth monitoring in pediatric achondroplasia.

Authors: Cohen-Sela E Lebenthal Y Brener A et al.

Source: European journal of pediatrics [Eur J Pediatr] 2025 Jul 18; Vol. 184 (8), pp. 490. Date of Electronic Publication: 2025 Jul 18.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE

MeSH Terms: Achondroplasia*/physiopathology , Achondroplasia*/diagnosis , Growth Charts* , Artificial Intelligence* , Anthropometry*/methods, Humans ; Male ; Female ; Child ; Child, Preschool ; Adolescent ; Reproducibility of Results

Integrating vosoritide therapy with limb surgery in paediatric patients with achondroplasia: real-life experiences.

Authors: Allegri AEM Bedeschi MF Bocchi MB et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Jul 17; Vol. 20 (1), pp. 369. Date of Electronic Publication: 2025 Jul 17.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

MeSH Terms: Achondroplasia*/drug therapy , Achondroplasia*/surgery , Natriuretic Peptide, C-Type*/therapeutic use , Natriuretic Peptide, C-Type*/analogs & derivatives, Humans ; Child ; Adolescent ; Male ; Female ; Child, Preschool

Functional Change in a Child With Achondroplasia Following 12 Months Treatment With Vosoritide-A Case Report.

Authors: Ireland P Carroll T Pendlebury E et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Jul; Vol. 197 (7), pp. e64054. Date of Electronic Publication: 2025 Mar 18.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

MeSH Terms: Achondroplasia*/drug therapy , Achondroplasia*/physiopathology , Achondroplasia*/genetics , Natriuretic Peptide, C-Type*/administration & dosage , Natriuretic Peptide, C-Type*/therapeutic use, Humans ; Male ; Child, Preschool ; Treatment Outcome

Unilateral biportal endoscopic decompression for lumbar spinal stenosis in achondroplasia: a 30-month follow up case report.

Authors: Liu X Su Z Zhang D et al.

Source: European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society [Eur Spine J] 2025 Jul; Vol. 34 (7), pp. 2981-2985. Date of Electronic Publication: 2025 Apr 01.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 9301980 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0932 (Electronic) Linking ISSN: 09406719 NLM ISO Abbreviation: Eur Spine J Subsets: MEDLINE

MeSH Terms: Spinal Stenosis*/surgery , Spinal Stenosis*/etiology , Spinal Stenosis*/diagnostic imaging , Achondroplasia*/complications , Achondroplasia*/surgery , Decompression, Surgical*/methods , Lumbar Vertebrae*/surgery , Lumbar Vertebrae*/diagnostic imaging , Endoscopy*/methods, Humans ; Male ; Adult ; Follow-Up Studies ; Treatment Outcome