From the Research
Yes, Escobar syndrome can cause respiratory obstruction that would be reflected in abnormal pulmonary function tests (PFTs). Escobar syndrome is characterized by multiple pterygia (webbing) across joints, skeletal abnormalities, and craniofacial deformities that can directly impact respiratory function. The syndrome often causes restrictive lung disease due to chest wall deformities such as scoliosis, kyphosis, and pectus excavatum. Additionally, patients may have reduced lung volumes and capacities due to diaphragmatic weakness or paralysis. PFTs in these patients typically show decreased forced vital capacity (FVC), decreased total lung capacity (TLC), and reduced forced expiratory volume in one second (FEV1), with a preserved FEV1/FVC ratio, consistent with a restrictive pattern. Upper airway obstruction may also occur due to micrognathia, glossoptosis, and laryngeal webbing. The severity of respiratory impairment varies among patients, with some requiring ventilatory support. Regular pulmonary function testing is recommended for patients with Escobar syndrome to monitor respiratory status and guide interventions such as physical therapy, assistive devices, or surgical correction of severe deformities that compromise breathing, as seen in a case report where a patient's functional vital capacity improved from 23% predicted preoperatively to 60% predicted postoperatively after surgical intervention 1.
Key Features of Escobar Syndrome
- Multiple pterygia (webbing) across joints
- Skeletal abnormalities, including scoliosis and kyphosis
- Craniofacial deformities
- Restrictive lung disease
- Diaphragmatic weakness or paralysis
- Upper airway obstruction due to micrognathia, glossoptosis, and laryngeal webbing
Respiratory Impairment in Escobar Syndrome
- Decreased forced vital capacity (FVC)
- Decreased total lung capacity (TLC)
- Reduced forced expiratory volume in one second (FEV1)
- Preserved FEV1/FVC ratio, consistent with a restrictive pattern
- Variability in severity, with some patients requiring ventilatory support, as reported in a study on airway management in Escobar syndrome 2
Management and Monitoring
- Regular pulmonary function testing to monitor respiratory status
- Interventions such as physical therapy, assistive devices, or surgical correction of severe deformities that compromise breathing
- Consideration of early surgical intervention to prevent curve progression, restrictive lung disease, and the need for complex salvage procedures, as proposed in a case report 1