Search Results - "Upper Extremity Deformities"

Phocomelia Re-Examined Using the CoULD Registry.

Authors: Wall LB Ishamuddin S Steinman S et al.

Corporate Authors: Wall LB Ishamuddin S Steinman S et al.

Source: The Journal of hand surgery [J Hand Surg Am] 2025 Oct; Vol. 50 (10), pp. 1224-1231. Date of Electronic Publication: 2025 Sep 08.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 7609631 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-6564 (Electronic) Linking ISSN: 03635023 NLM ISO Abbreviation: J Hand Surg Am Subsets: MEDLINE

MeSH Terms: Registries* , Ectromelia*/classification , Ectromelia*/diagnostic imaging , Ectromelia*/diagnosis , Upper Extremity Deformities, Congenital*/classification , Upper Extremity Deformities, Congenital*/diagnosis , Upper Extremity Deformities, Congenital*/diagnostic imaging, Humans ; Male ; Female ; Child, Preschool ; Child ; Infant ; Radiography

The Influence of the Introduction of Fetal Anomaly Scans on Pregnancy Terminations in Cases of Upper Limb Anomalies: A Retrospective Cohort Study From 2000 to 2023.

Authors: Arduç A Huiberts E van Doesburg MHM et al.

Source: Prenatal diagnosis [Prenat Diagn] 2025 Oct; Vol. 45 (11), pp. 1450-1458. Date of Electronic Publication: 2025 Sep 01.

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: Upper Extremity Deformities, Congenital*/diagnostic imaging , Upper Extremity Deformities, Congenital*/epidemiology , Upper Extremity Deformities, Congenital*/diagnosis , Ultrasonography, Prenatal*/statistics & numerical data , Abortion, Induced*/statistics & numerical data , Prenatal Diagnosis*/statistics & numerical data, Humans ; Female ; Pregnancy ; Retrospective Studies ; Netherlands/epidemiology ; Adult ; Gestational Age

A new type of sirenomelia with dysplastic upper limb and cystic hygroma diagnosed in early pregnancy through 2D and 3D ultrasonography: case report.

Authors: Hou R Liu YH Gong J et al.

Source: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2025 Nov; Vol. 64 (6), pp. 1065-1068.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Elsevier Country of Publication: China (Republic : 1949- ) NLM ID: 101213819 Publication Model: Print Cited Medium: Internet ISSN: 1875-6263 (Electronic) Linking ISSN: 10284559 NLM ISO Abbreviation: Taiwan J Obstet Gynecol Subsets: MEDLINE

MeSH Terms: Ultrasonography, Prenatal*/methods , Ectromelia*/diagnostic imaging , Lymphangioma, Cystic*/diagnostic imaging , Upper Extremity Deformities, Congenital*/diagnostic imaging, Humans ; Female ; Pregnancy ; Adult ; Imaging, Three-Dimensional

Mothers' perspectives on the use and acceptability of 3d printed prosthesis by their children with congenital upper limb difference in India: a qualitative study.

Authors: Dimintiyanova OY Meershoek A de Kuyper NH et al.

Source: Disability and rehabilitation [Disabil Rehabil] 2025 Jun; Vol. 47 (13), pp. 3459-3469. Date of Electronic Publication: 2024 Nov 01.

Publication Type: Journal Article

Journal Info: Publisher: Taylor & Francis Country of Publication: England NLM ID: 9207179 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1464-5165 (Electronic) Linking ISSN: 09638288 NLM ISO Abbreviation: Disabil Rehabil Subsets: MEDLINE

MeSH Terms: Mothers*/psychology , Printing, Three-Dimensional* , Artificial Limbs* , Prosthesis Design* , Upper Extremity Deformities, Congenital*/rehabilitation, Humans ; India ; Female ; Qualitative Research ; Child, Preschool ; Child ; Male ; Interviews as Topic ; Adult

Epidemiology of Congenital Upper-Limb Anomalies in Southern Taiwan Based on the Updated Oberg, Manske, and Tonkin Classification: A Series of 1,335 Anomalies in 1,188 Patients.

Authors: Yeh JP Kuo PJ Lin TS et al.

Source: The Journal of hand surgery [J Hand Surg Am] 2025 Feb; Vol. 50 (2), pp. 231.e1-231.e10. Date of Electronic Publication: 2023 Jul 28.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 7609631 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-6564 (Electronic) Linking ISSN: 03635023 NLM ISO Abbreviation: J Hand Surg Am Subsets: MEDLINE

MeSH Terms: Upper Extremity Deformities, Congenital*/epidemiology , Upper Extremity Deformities, Congenital*/classification, Humans ; Taiwan/epidemiology ; Retrospective Studies ; Male ; Female ; Child ; Infant ; Child, Preschool ; Adolescent ; Adult ; Young Adult ; Infant, Newborn

Advances and Challenges in Prenatal Detection and Genetic Diagnosis of Upper Limb Anomalies: Analysis of a South London and Kent Cohort.

Authors: Ruscitti F Giacchino T Koutoulas L et al.

Source: Prenatal diagnosis [Prenat Diagn] 2025 Jan; Vol. 45 (1), pp. 15-26. Date of Electronic Publication: 2024 Dec 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: Upper Extremity Deformities, Congenital*/genetics , Upper Extremity Deformities, Congenital*/diagnosis , Upper Extremity Deformities, Congenital*/diagnostic imaging , Ultrasonography, Prenatal*, Humans ; Female ; Retrospective Studies ; Pregnancy ; Cross-Sectional Studies ; London/epidemiology ; Genetic Testing/methods ; Prenatal Diagnosis/methods ; Prenatal Diagnosis/statistics & numerical data ; Adult ; Cohort Studies

Phenotype-to-Genotype Description of Prenatal Suspected and Postnatal Discovered Upper Limb Anomalies: A Retrospective Cohort Study.

Authors: Arduç A van Dijk SJB Ten Cate FJ et al.

Source: Prenatal diagnosis [Prenat Diagn] 2025 Jan; Vol. 45 (1), pp. 3-14. Date of Electronic Publication: 2024 Nov 29.

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: Upper Extremity Deformities, Congenital*/genetics , Upper Extremity Deformities, Congenital*/diagnosis , Upper Extremity Deformities, Congenital*/diagnostic imaging , Ultrasonography, Prenatal* , Phenotype*, Humans ; Retrospective Studies ; Female ; Pregnancy ; Male ; Infant, Newborn ; Polydactyly/genetics ; Polydactyly/epidemiology ; Polydactyly/diagnosis ; Polydactyly/diagnostic imaging ; Genotype ; Cohort Studies ; Syndactyly/genetics ; Syndactyly/diagnosis ; Syndactyly/epidemiology ; Adult

Establishing the psychological impact of congenital upper limb differences on parents and families.

Authors: Miller R Mackenzie A Welman T et al.

Source: The Journal of hand surgery, European volume [J Hand Surg Eur Vol] 2025 Feb; Vol. 50 (2), pp. 247-252. Date of Electronic Publication: 2024 Jun 04.

Publication Type: Journal Article

Journal Info: Publisher: Sage Publications Country of Publication: England NLM ID: 101315820 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2043-6289 (Electronic) Linking ISSN: 02667681 NLM ISO Abbreviation: J Hand Surg Eur Vol Subsets: MEDLINE

MeSH Terms: Parents*/psychology , Upper Extremity Deformities, Congenital*/psychology, Humans ; Female ; Male ; Prospective Studies ; Adult ; Adaptation, Psychological ; Child ; Middle Aged ; Surveys and Questionnaires ; Social Support ; Child, Preschool ; Emotions

Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome.

Authors: Vanlerberghe C Jourdain AS Frenois F et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Dec; Vol. 26 (12), pp. 101267. Date of Electronic Publication: 2024 Sep 10.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

MeSH Terms: T-Box Domain Proteins*/genetics , Mutation, Missense*/genetics , Heart Defects, Congenital*/genetics , Upper Extremity Deformities, Congenital*/genetics , Abnormalities, Multiple*/genetics , Computer Simulation* , Heart Septal Defects, Atrial*/genetics , Lower Extremity Deformities, Congenital*/genetics, Humans ; RNA Splicing/genetics ; Haploinsufficiency/genetics

SCR Disease Name: Holt-Oram syndrome

Parental experience after diagnosis of a congenital upper limb difference: a national survey.

Authors: Clelland AD Lester R Duncan Ó et al.

Source: The Journal of hand surgery, European volume [J Hand Surg Eur Vol] 2024 Dec; Vol. 49 (11), pp. 1327-1333. Date of Electronic Publication: 2024 May 03.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Sage Publications Country of Publication: England NLM ID: 101315820 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2043-6289 (Electronic) Linking ISSN: 02667681 NLM ISO Abbreviation: J Hand Surg Eur Vol Subsets: MEDLINE

MeSH Terms: Parents*/psychology , Upper Extremity Deformities, Congenital*/psychology, Humans ; Cross-Sectional Studies ; Retrospective Studies ; Ireland ; Female ; United Kingdom ; Male ; Surveys and Questionnaires ; Infant ; Infant, Newborn ; Adult

Developing a Congenital Upper Limb Difference Registry in Australia.

Authors: Wilks DJ McCombe DB

Source: The journal of hand surgery Asian-Pacific volume [J Hand Surg Asian Pac Vol] 2024 Dec; Vol. 29 (6), pp. 486-491. Date of Electronic Publication: 2024 Nov 22.

Publication Type: Journal Article

Journal Info: Publisher: World Scientific Country of Publication: Singapore NLM ID: 101688432 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2424-8363 (Electronic) NLM ISO Abbreviation: J Hand Surg Asian Pac Vol Subsets: MEDLINE

MeSH Terms: Registries*/statistics & numerical data , Upper Extremity Deformities, Congenital*/epidemiology, Humans ; Australia/epidemiology ; Upper Extremity

A multidisciplinary and structured investigation of three suspected clusters of transverse upper limb reduction defects in France.

Authors: Boudet-Berquier J Demattei C Guldner L et al.

Source: European journal of epidemiology [Eur J Epidemiol] 2024 Jul; Vol. 39 (7), pp. 753-771. Date of Electronic Publication: 2024 Apr 27.

Publication Type: Journal Article

Journal Info: Publisher: Kluwer Academic Publishers Country of Publication: Netherlands NLM ID: 8508062 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7284 (Electronic) Linking ISSN: 03932990 NLM ISO Abbreviation: Eur J Epidemiol Subsets: MEDLINE

MeSH Terms: Upper Extremity Deformities, Congenital*, Humans ; France/epidemiology ; Female ; Male ; Cluster Analysis ; Risk Factors ; Upper Extremity ; Spatio-Temporal Analysis ; Child ; Environmental Exposure/adverse effects ; Infant

The Impact on Families of Children With Congenital Upper Extremity Differences.

Authors: Ballatori S Bauer A Wang A et al.

Corporate Authors: Ballatori S Bauer A Wang A et al.

Source: The Journal of hand surgery [J Hand Surg Am] 2024 Jul; Vol. 49 (7), pp. 681-689. Date of Electronic Publication: 2024 Apr 17.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 7609631 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-6564 (Electronic) Linking ISSN: 03635023 NLM ISO Abbreviation: J Hand Surg Am Subsets: MEDLINE

MeSH Terms: Upper Extremity Deformities, Congenital* , Caregivers*/psychology, Humans ; Cross-Sectional Studies ; Female ; Male ; Child ; Adult ; Child, Preschool ; Registries ; Adolescent ; Patient Reported Outcome Measures ; Infant ; Middle Aged ; Upper Extremity ; Caregiver Burden/psychology

TBX5 variants and cardiac phenotype: A systematic review of the literature and a novel variant.

Authors: Møller Nielsen AK Dehn AM Hjortdal V et al.

Source: European journal of medical genetics [Eur J Med Genet] 2024 Apr; Vol. 68, pp. 104920. Date of Electronic Publication: 2024 Feb 07.

Publication Type: Systematic Review; Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

MeSH Terms: Abnormalities, Multiple* , Heart Defects, Congenital*/genetics , Heart Defects, Congenital*/diagnosis , Heart Septal Defects, Atrial*/genetics , Lower Extremity Deformities, Congenital*/genetics , Upper Extremity Deformities, Congenital*/genetics , Upper Extremity Deformities, Congenital*/diagnosis, Humans ; Phenotype ; T-Box Domain Proteins/genetics

SCR Disease Name: Holt-Oram syndrome

Syndromic Involvement of Patients Presenting With Congenital Upper Limb Anomalies: An Analysis of 4,317 Cases.

Authors: Wildenauer L Mavrommatis S Bae DS et al.

Corporate Authors: Wildenauer L Mavrommatis S Bae DS et al.

Source: The Journal of hand surgery [J Hand Surg Am] 2024 Apr; Vol. 49 (4), pp. 311-320. Date of Electronic Publication: 2024 Jan 14.

Publication Type: Multicenter Study; Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 7609631 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-6564 (Electronic) Linking ISSN: 03635023 NLM ISO Abbreviation: J Hand Surg Am Subsets: MEDLINE

MeSH Terms: Upper Extremity Deformities, Congenital*/epidemiology , Upper Extremity Deformities, Congenital*/genetics , Hand Deformities, Congenital*/epidemiology , Hand Deformities, Congenital*/genetics, Humans ; Child ; Retrospective Studies ; Registries ; Hand

Increasing Severity of Radial Longitudinal Deficiency Correlates With the Degree of Proximal Ulnar Hypoplasia.

Authors: Fishman FG January AM

Source: The Journal of hand surgery [J Hand Surg Am] 2025 Sep; Vol. 50 (9), pp. 1123.e1-1123.e6. Date of Electronic Publication: 2024 Jul 06.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 7609631 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-6564 (Electronic) Linking ISSN: 03635023 NLM ISO Abbreviation: J Hand Surg Am Subsets: MEDLINE

MeSH Terms: Ulna*/abnormalities , Ulna*/diagnostic imaging , Radius*/abnormalities , Radius*/diagnostic imaging , Elbow Joint*/diagnostic imaging , Elbow Joint*/physiopathology, Humans ; Retrospective Studies ; Male ; Female ; Child ; Child, Preschool ; Radiography ; Severity of Illness Index ; Adolescent ; Infant ; Upper Extremity Deformities, Congenital/diagnostic imaging ; Congenital Bone Marrow Failure Syndromes ; Thrombocytopenia

SCR Disease Name: Absent radii and thrombocytopenia

Prevalence of Congenital Anomalies of the Upper Limbs in Brazil: a descriptive cross-sectional study.

Authors: Moura SRB Nakachima LR Santos JBGD et al.

Source: Sao Paulo medical journal = Revista paulista de medicina [Sao Paulo Med J] 2024 Jun 17; Vol. 142 (6), pp. e2023349. Date of Electronic Publication: 2024 Jun 17 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Associação Paulista de Medicina Country of Publication: Brazil NLM ID: 100897261 Publication Model: eCollection Cited Medium: Internet ISSN: 1806-9460 (Electronic) Linking ISSN: 15163180 NLM ISO Abbreviation: Sao Paulo Med J Subsets: MEDLINE

MeSH Terms: Upper Extremity Deformities, Congenital*/epidemiology, Humans ; Brazil/epidemiology ; Cross-Sectional Studies ; Prevalence ; Female ; Infant, Newborn ; Male ; Adult ; Young Adult ; Maternal Age ; Upper Extremity

Transverse limb deficiency of the upper extremities.

Transliterated Title: Transversale Reduktionsdefekte der oberen Extremitäten.

Authors: Klaritsch P

Source: Ultraschall in der Medizin (Stuttgart, Germany : 1980) [Ultraschall Med] 2024 Jun; Vol. 45 (3), pp. 220-231. Date of Electronic Publication: 2024 Jun 04.

Publication Type: Journal Article

Journal Info: Publisher: G. Thieme Verlag Country of Publication: Germany NLM ID: 8303585 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1438-8782 (Electronic) Linking ISSN: 01724614 NLM ISO Abbreviation: Ultraschall Med Subsets: MEDLINE

MeSH Terms: Ultrasonography, Prenatal* , Upper Extremity Deformities, Congenital*/diagnostic imaging, Female ; Humans ; Infant, Newborn ; Male ; Upper Extremity/diagnostic imaging ; Pregnancy

The Oberg, Manske, and Tonkin Classification of Congenital Upper Limb Anomalies: A Consensus Decision-Making Study for Difficult or Unclassifiable Cases.

Authors: Wall LB McCombe D Goldfarb CA et al.

Corporate Authors: Wall LB McCombe D Goldfarb CA et al.

Source: The Journal of hand surgery [J Hand Surg Am] 2024 Apr; Vol. 49 (4), pp. 379.e1-379.e7. Date of Electronic Publication: 2022 Sep 09.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 7609631 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-6564 (Electronic) Linking ISSN: 03635023 NLM ISO Abbreviation: J Hand Surg Am Subsets: MEDLINE

MeSH Terms: Upper Extremity Deformities, Congenital*/diagnosis , Hand Deformities, Congenital* , Syndactyly*, Humans ; Child ; Consensus ; Syndrome ; Upper Extremity

Novel prosthesis with proximity sensor for upper extremity phocomelia.

Authors: Yamanoi Y Takagi T Yokoi H

Source: The Journal of hand surgery, European volume [J Hand Surg Eur Vol] 2024 Mar; Vol. 49 (3), pp. 375-376. Date of Electronic Publication: 2023 Oct 26.

Publication Type: Letter

Journal Info: Publisher: Sage Publications Country of Publication: England NLM ID: 101315820 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2043-6289 (Electronic) Linking ISSN: 02667681 NLM ISO Abbreviation: J Hand Surg Eur Vol Subsets: MEDLINE

MeSH Terms: Ectromelia*/surgery , Artificial Limbs* , Upper Extremity Deformities, Congenital*/surgery, Child ; Humans ; Upper Extremity/surgery ; Hand ; Prosthesis Design