Jarcho-Levin syndrome in Pakistan: a case report and review of 321 cases on the principles of diagnosis and management
Abstract Background Jarcho-Levin syndrome (JLS) is a genetic condition that constitutes specific vertebral anomalies combined with coastal or thoracic anomalies due to specific gene mutations. Although the condition is associated typically to Puerto-Ricans, we describe the novel case of JLS in a Pak...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
SpringerOpen
2022-05-01
|
| Series: | The Cardiothoracic Surgeon |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s43057-022-00075-6 |
| _version_ | 1811250914777890816 |
|---|---|
| author | Imran Asghar Sheharyar Zameer Taimoor Ashraf Khan Muhammad Abdullah Zahid Muhammad Hamza Khan Noor Ul Ain Zameer |
| author_facet | Imran Asghar Sheharyar Zameer Taimoor Ashraf Khan Muhammad Abdullah Zahid Muhammad Hamza Khan Noor Ul Ain Zameer |
| author_sort | Imran Asghar |
| collection | DOAJ |
| description | Abstract Background Jarcho-Levin syndrome (JLS) is a genetic condition that constitutes specific vertebral anomalies combined with coastal or thoracic anomalies due to specific gene mutations. Although the condition is associated typically to Puerto-Ricans, we describe the novel case of JLS in a Pakistani family that presented with respiratory distress secondary to the condition. Case presentation The case is a full-term girl that had a webbed neck with an undefined chest deformity. Radiology showed kyphoscoliosis and a crablike chest. Early identification of these high morbidity conditions is key to allow for optimal treatment and improved outcomes. Conclusions We have provided a brief breakdown of the management principles of the condition and more than 80 years after the first case of Jarcho-Levin syndrome was reported, we present the diagnostic criterion for JLS. |
| first_indexed | 2024-04-12T16:11:54Z |
| format | Article |
| id | doaj.art-72a8bb79973548cbb5ce842b9ca43395 |
| institution | Directory Open Access Journal |
| issn | 2662-2203 |
| language | English |
| last_indexed | 2024-04-12T16:11:54Z |
| publishDate | 2022-05-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | The Cardiothoracic Surgeon |
| spelling | doaj.art-72a8bb79973548cbb5ce842b9ca433952022-12-22T03:25:52ZengSpringerOpenThe Cardiothoracic Surgeon2662-22032022-05-013011510.1186/s43057-022-00075-6Jarcho-Levin syndrome in Pakistan: a case report and review of 321 cases on the principles of diagnosis and managementImran Asghar0Sheharyar Zameer1Taimoor Ashraf Khan2Muhammad Abdullah Zahid3Muhammad Hamza Khan4Noor Ul Ain Zameer5Combined Military HospitalCombined Military HospitalArmed Forces Institute of OphthalmologyMonash HealthArmy Medical CollegeCombined Military HospitalAbstract Background Jarcho-Levin syndrome (JLS) is a genetic condition that constitutes specific vertebral anomalies combined with coastal or thoracic anomalies due to specific gene mutations. Although the condition is associated typically to Puerto-Ricans, we describe the novel case of JLS in a Pakistani family that presented with respiratory distress secondary to the condition. Case presentation The case is a full-term girl that had a webbed neck with an undefined chest deformity. Radiology showed kyphoscoliosis and a crablike chest. Early identification of these high morbidity conditions is key to allow for optimal treatment and improved outcomes. Conclusions We have provided a brief breakdown of the management principles of the condition and more than 80 years after the first case of Jarcho-Levin syndrome was reported, we present the diagnostic criterion for JLS.https://doi.org/10.1186/s43057-022-00075-6Spondylothoracic dysostosisSpondylocoastal dysostosisThoracic insufficiencyDiagnostic criterionVertical expandable prosthetic titanium ribs |
| spellingShingle | Imran Asghar Sheharyar Zameer Taimoor Ashraf Khan Muhammad Abdullah Zahid Muhammad Hamza Khan Noor Ul Ain Zameer Jarcho-Levin syndrome in Pakistan: a case report and review of 321 cases on the principles of diagnosis and management The Cardiothoracic Surgeon Spondylothoracic dysostosis Spondylocoastal dysostosis Thoracic insufficiency Diagnostic criterion Vertical expandable prosthetic titanium ribs |
| title | Jarcho-Levin syndrome in Pakistan: a case report and review of 321 cases on the principles of diagnosis and management |
| title_full | Jarcho-Levin syndrome in Pakistan: a case report and review of 321 cases on the principles of diagnosis and management |
| title_fullStr | Jarcho-Levin syndrome in Pakistan: a case report and review of 321 cases on the principles of diagnosis and management |
| title_full_unstemmed | Jarcho-Levin syndrome in Pakistan: a case report and review of 321 cases on the principles of diagnosis and management |
| title_short | Jarcho-Levin syndrome in Pakistan: a case report and review of 321 cases on the principles of diagnosis and management |
| title_sort | jarcho levin syndrome in pakistan a case report and review of 321 cases on the principles of diagnosis and management |
| topic | Spondylothoracic dysostosis Spondylocoastal dysostosis Thoracic insufficiency Diagnostic criterion Vertical expandable prosthetic titanium ribs |
| url | https://doi.org/10.1186/s43057-022-00075-6 |
| work_keys_str_mv | AT imranasghar jarcholevinsyndromeinpakistanacasereportandreviewof321casesontheprinciplesofdiagnosisandmanagement AT sheharyarzameer jarcholevinsyndromeinpakistanacasereportandreviewof321casesontheprinciplesofdiagnosisandmanagement AT taimoorashrafkhan jarcholevinsyndromeinpakistanacasereportandreviewof321casesontheprinciplesofdiagnosisandmanagement AT muhammadabdullahzahid jarcholevinsyndromeinpakistanacasereportandreviewof321casesontheprinciplesofdiagnosisandmanagement AT muhammadhamzakhan jarcholevinsyndromeinpakistanacasereportandreviewof321casesontheprinciplesofdiagnosisandmanagement AT noorulainzameer jarcholevinsyndromeinpakistanacasereportandreviewof321casesontheprinciplesofdiagnosisandmanagement |