| Main clinical features
|
intellectual disability, and impaired growth, and developmental delay in the subjects ranged from mild to severe, absent speech and frequent hearing loss
facial features included a broad forehead with frontal bossing, sparse, slow growing hair, particularly in the frontal and temporal regions; peri-orbital fullness, and malar hypoplasia, prominent nasal tip, dysplastic “satyr” ears
at MRI, mild enlargement of the lateral ventricles, and also polymicrogyria
skeletal anomalies were observed in several individuals, cyphosis and/or scoliosis, vertebral abnormalities
cardiac abnormalities, patent ductus arteriosus (PDA), atrial septal defect, and dilatation of the ascending aorta
mild facial hypotonia was common with impaired articulation of speech and open mouth posture |