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Table 4 Actual main orthopedic findings and literature data review

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

  Present data Reinker et al. [11] Detweiler et al. [13] White et al. [9] Yassir et al. [8] Armour et al. [10]
CS N = 17 (%) CFCS N = 17 (%) CS N = 2 (%)a CFCS N = 32 (%)a CS N = 43 (%) CS N = 17 (%)b CS N = 18 (%)b CFCS N = 38 (%)
Spine
Scoliosis 5 (29) 6 (35) 1 (50) 8 (25) 25/40 (36) 10 (59) 3/18 (17) 11/33 (33)
Kyphosis 3 (18) 3 (18) 0 (0) 6 (19) 23/40 (58) 3 (18) 3/18 (17) 6/26 (23)
Lordosis 1 (6) 1 (6) 0 (0) 1 (3) 6/32 (19) NA NA NA
Upper extremities
Cubitus valgus 5 (29) 4 (24) 1 (50) 0 (0) NA NA NA NA
Elbow contracture 9 (53) 5 (30) 1 (50) 4 (12) 21/38 (55) NA 10/16 (63) NA
Ulnar deviation 14 (82) 6 (35) NA NA 26/41 (63) NA 4/18 (22) NA
Lower extremities
Hip dysplasia 8/9 (89)c 3 (27)c 0 (0) 5 (16) 17/38 (45) NA 3/18 (17)c NA
Genu valgum 5 (29) 3 (18) NA NA 7/28 (25) NA NA NA
Knee contracture 3 (18) 6 (35) 1 (50) 7 (22) 13/40 (33) NA NA NA
Vertical talus 0 (0) 0 (0) NA NA 7/41 (17) 4 (24) 5/18 (28) NA
Bilateral talipes equinovarus 0 (0) 3 (18) 0 (0/2) 5 (16) 1/41 (2) 1 (6) NA NA
Pes planus 6 (35) 6 (35) 1 (50) 20 (62) 19/36 (53) NA 7/16 (44) 5/38 (13)
Pes cavus 6 (35) 1 (6) 0 (0) 2 (6) 3/40 (8) 4/17 (24) NA NA
Clino-/syn-/campto-dactyly 6 (35) 4 (24) 0 (0) 4 (12) 11/41 (27) NA 6/16 (38) 8/38 (21)
Metatarsus varus 8 (47) 6 (35) 0 (0) 2 (6) NA NA NA NA
Hallux valgus 4 (24) 2 (12) 0 (0) 2 (6) 3/39 (8) NA NA NA
Others
Pectus excavatum/carinatum 9 (53) 8 (47) 0 (0) 4 (12) 12/40 (30) 8/13 (62) 1/16 (6) 19/29 (63)
Joint Laxity 7 (41) 5 (29) NA 4 (12) 35/41 (85) 3/3 (100) 16/16 (100) 17/27 (63)
Achille tendon release 8 (47) 1 (6) NA NA 17/43 (40) 14/17 (82) 8/18 (44)d NA
  1. aIn this population 1/2 patients with CS and 19/32 patients with CFCS, received a molecular confirmation
  2. bPatients without genetic confirmation
  3. cCoxa valga subluxans based on X-rays
  4. d5 surgically treated and 3 with serial casting