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Arthrogryposis in a Case of Chiari Malformation II: First Case Report in a Mediterranean Population
Patient: Male, 28 Final Diagnosis: Arthrogryposis in a Chiari II malformation Symptoms: Failure to thrive Medication: — Clinical Procedure: — Specialty: Orthopedics and Traumatology OBJECTIVE: Congenital defects/diseases BACKGROUND: Arthrogryposis multiplex congenita is a multifactorial syndromic or...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
International Scientific Literature, Inc.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537754/ https://www.ncbi.nlm.nih.gov/pubmed/31105263 http://dx.doi.org/10.12659/AJCR.914870 |
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author | Naja, Ahmad Salaheddine Khatib, Hassan El Baydoun, Ahmad Eddine, Mohamad Nasser |
author_facet | Naja, Ahmad Salaheddine Khatib, Hassan El Baydoun, Ahmad Eddine, Mohamad Nasser |
author_sort | Naja, Ahmad Salaheddine |
collection | PubMed |
description | Patient: Male, 28 Final Diagnosis: Arthrogryposis in a Chiari II malformation Symptoms: Failure to thrive Medication: — Clinical Procedure: — Specialty: Orthopedics and Traumatology OBJECTIVE: Congenital defects/diseases BACKGROUND: Arthrogryposis multiplex congenita is a multifactorial syndromic or non-syndromic group of conditions consisting of multiple congenital contractures of the body, of unknown etiology. It is associated with a heterogenous group of disorders that include but are not limited to processes such as myopathic and neuropathic. Neural tube defect is a neuropathic disorder that incorporates myelomeningocele that might be either isolated or within a spectrum of multiple diseases. CASE REPORT: This is a case report of a 28-day-old male born with lower limb arthrogryposis with myelomeningocele and Chiari II malformation in a Mediterranean population. CONCLUSIONS: Lower extremity arthrogryposis with myelomeningocele and Chiari II malformation is a prenatal diagnosis that requires high clinical suspicion, early multidisciplinary intervention, and genetic counselling. As long as new approaches are being explored in the management of such cases, babies born now with neural tube defects can expect better quality of life. |
format | Online Article Text |
id | pubmed-6537754 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | International Scientific Literature, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-65377542019-06-12 Arthrogryposis in a Case of Chiari Malformation II: First Case Report in a Mediterranean Population Naja, Ahmad Salaheddine Khatib, Hassan El Baydoun, Ahmad Eddine, Mohamad Nasser Am J Case Rep Articles Patient: Male, 28 Final Diagnosis: Arthrogryposis in a Chiari II malformation Symptoms: Failure to thrive Medication: — Clinical Procedure: — Specialty: Orthopedics and Traumatology OBJECTIVE: Congenital defects/diseases BACKGROUND: Arthrogryposis multiplex congenita is a multifactorial syndromic or non-syndromic group of conditions consisting of multiple congenital contractures of the body, of unknown etiology. It is associated with a heterogenous group of disorders that include but are not limited to processes such as myopathic and neuropathic. Neural tube defect is a neuropathic disorder that incorporates myelomeningocele that might be either isolated or within a spectrum of multiple diseases. CASE REPORT: This is a case report of a 28-day-old male born with lower limb arthrogryposis with myelomeningocele and Chiari II malformation in a Mediterranean population. CONCLUSIONS: Lower extremity arthrogryposis with myelomeningocele and Chiari II malformation is a prenatal diagnosis that requires high clinical suspicion, early multidisciplinary intervention, and genetic counselling. As long as new approaches are being explored in the management of such cases, babies born now with neural tube defects can expect better quality of life. International Scientific Literature, Inc. 2019-05-20 /pmc/articles/PMC6537754/ /pubmed/31105263 http://dx.doi.org/10.12659/AJCR.914870 Text en © Am J Case Rep, 2019 This work is licensed under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) ) |
spellingShingle | Articles Naja, Ahmad Salaheddine Khatib, Hassan El Baydoun, Ahmad Eddine, Mohamad Nasser Arthrogryposis in a Case of Chiari Malformation II: First Case Report in a Mediterranean Population |
title | Arthrogryposis in a Case of Chiari Malformation II: First Case Report in a Mediterranean Population |
title_full | Arthrogryposis in a Case of Chiari Malformation II: First Case Report in a Mediterranean Population |
title_fullStr | Arthrogryposis in a Case of Chiari Malformation II: First Case Report in a Mediterranean Population |
title_full_unstemmed | Arthrogryposis in a Case of Chiari Malformation II: First Case Report in a Mediterranean Population |
title_short | Arthrogryposis in a Case of Chiari Malformation II: First Case Report in a Mediterranean Population |
title_sort | arthrogryposis in a case of chiari malformation ii: first case report in a mediterranean population |
topic | Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537754/ https://www.ncbi.nlm.nih.gov/pubmed/31105263 http://dx.doi.org/10.12659/AJCR.914870 |
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