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Table 2 Relevant medical findings

From: Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status

  CS N = 17 (%) CFCS N = 17 (%)
Congenital orthopedic malformation
Congenital hip dysplasia 2 (12) 1 (6)
Clubfoot 1 (6) 1 (6)
Neuro-motor abilities
Head control 17 (100) 17 (100)
Trunk control 17 (100) 16 (94)
Autonomous deambulationa 17 (100) 11 (65)
Assisted Walkinga 0 (0) 6 (35)
Past use of orthosis 15 (88) 13 (76)
Use of orthosisa
DAFO/AFO 5 (29) 4 (24)
Postural Stroller 1 (6) 6 (35)
Corset/Belt/Brace 0 (0) 3 (18)
Orthopedic Insole 8 (47) 8 (47)
Physical activityb 14 (82) 13 (76)
Physical therapy 4 (24) 13 (76)
Sport 5 (29) 10 (59)
Congenital heart disease
HCM 10 (59) 4 (23)
PVS 1 (6) 6 (35)
PVD 0 (0) 1 (6)
MVD 3 (18) 4 (23)
ASD/VSD 1 (6) 1 (6)
  1. Prevalence data refers to acquired neuro-motor ability at time of clinical evaluation
  2. HCM hypertrophic cardiomyopathy, PVS pulmonary valve stenosis, PVD pulmonary valve dysplasia, MVD mitral valve disease, ASD atrial septal defect, VSD ventricular septal defect
  3. aData showed at time of clinical evaluation
  4. bWe considered physical therapy or sport played ≥ 2 times per week