Anthropological abnormalities |
Normal or high birth weight and body length, growth inhibition from the age of 3 years and then short stature, growth deficiency, macrocephaly [12,15] |
Dysmorphic abnormalities |
Thickened facial features, broad nose, large head circumference, thick hair with a low neckline [3,8] |
Rheumatological/orthopedic abnormalities |
Reduced range of joint motion, dysostosis multiplex visible on X-ray examinations, carpal tunnel syndrome, ultrasonographic features of hip joints [16,17,18,19] |
Laryngological abnormalities |
Enlarged tongue, hypertrophic tonsils, slurred speech over time, gingival overgrowth, widely spaced teeth, recurrent middle-ear infections, progressive hearing loss [3,8] |
Pulmonological abnormalities |
Recurrent upper respiratory tract infections and pneumonia, progressive airway obstruction, sleep apnea [3,8] |
Cardiological abnormalities |
Valvular thickening and regurgitation, cardiomyopathy |
Gastrointestinal/surgical abnormalities |
Liver or liver and spleen enlargement, diarrhea, inguinal and umbilical hernias [3,8] |
Neurological and developmental abnormalities |
Behavioral disorders, poor/lack of concentration, hyperactivity, various degrees of mental retardation [3,8] |