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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