Year: 2024
Type: article
Study design: Case Report
Abstract: Klippel-Feil syndrome is characterized by the congenital synostosis of multiple cervical vertebrae and commonly presents with a multitude of congenital abnormalities, mainly including cardiac and respiratory defects. We present the case of a 39-year-old male with a prolonged history of cardiopulmonary symptoms whose investigations revealed restrictive lung disease, ventricular trigeminy and bigeminy, cervical vertebrae fusion, thoracic lumbar scoliosis, and mild-to-moderate pulmonary hypertension, all consistent with a diagnosis of Klippel-Feil syndrome. His management focused on preventing the progression of these findings while minimizing the effects of his extrinsic pulmonary restriction. Given the lack of guidelines in the management of such patients, this report highlights the role of early diagnosis and adequate management of such patients to reduce its progression and prevent the development of complications.
Source: Cureus
DOI: 10.7759/cureus.67303
Author: Ranjiv-a M Bridglal
Institution: University of the West Indies
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4401975561