| Autor: |
Asghar, Imran, Zameer, Sheharyar, Khan, Taimoor Ashraf, Zahid, Muhammad Abdullah, Khan, Muhammad Hamza, Zameer, Noor Ul Ain |
| Předmět: |
|
| Zdroj: |
Cardiothoracic Surgeon; 5/16/2022, Vol. 30 Issue 1, p1-5, 5p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
|
|
Nepřihlášeným uživatelům se plný text nezobrazuje |
K zobrazení výsledku je třeba se přihlásit.
|
