Jarcho-Levin syndrome in Pakistan: a case report and review of 321 cases on the principles of diagnosis and management

Autor:	Imran Asghar, Sheharyar Zameer, Taimoor Ashraf Khan, Muhammad Abdullah Zahid, Muhammad Hamza Khan, Noor Ul Ain Zameer
Jazyk:	angličtina
Rok vydání:	2022
Předmět:	Spondylothoracic dysostosis Spondylocoastal dysostosis Thoracic insufficiency Diagnostic criterion Vertical expandable prosthetic titanium ribs Surgery RD1-811 Diseases of the circulatory (Cardiovascular) system RC666-701
Zdroj:	The Cardiothoracic Surgeon, Vol 30, Iss 1, Pp 1-5 (2022)
Druh dokumentu:	article
ISSN:	2662-2203
DOI:	10.1186/s43057-022-00075-6
Popis:	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.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/72a8bb79973548cbb5ce842b9ca43395 Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF Plný text ve formátu HTML
Nepřihlášeným uživatelům se plný text nezobrazuje	K zobrazení výsledku je třeba se přihlásit.