Clinical Characteristics

PTLS clinical features:

•    Neurodevelopmental findings:
o    Mild to moderate infantile hypotonia
o    Oropharyngeal dysphagia
o    Developmental delay
o    Intellectual disability
o    Communication disorder with verbal apraxia
o    Sleep-disordered breathing
o    Autism spectrum disorder
o    Hyperactivity
o    Mild high-frequency sensorineural hearing loss

•    Congenital heart disease:
o    Left ventricular outflow track spectrum
o    Rhythm disturbances
o    Atrial septal defect
o    Ventricular septal defect
o    Dilated aortic root
o    Hypoplastic left heart

•    Mild to nonspecific dysmorphic facial features
o    Dental malocclusion and dental crowding
o    Hyperopia

•    Musculoskeletal:
o    Joint hypermobility
o    Kyphoscoliosis
o    Pes planus
o    Long fingers and toes