Overview of the clinical features of the 18 subjects with rMED and homozygosity for R279W
| Patient No | Gender | Parental consanguinity | Clinical signs at birth | Age at diagnosis of skeletal dysplasia | Leading signs and symptoms | Age at evaluation for this study | Height and centile for age | Double layered patella | Surgical procedures | Other diagnoses, remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | F | No | Short stature, foot deformity | Birth | Foot deformity | 28 y | 149.7 cm, <3rd | Not done | None | “Diastrophic dysplasia variant” |
| 2 | F | No | Clinodactyly finger V both sides | 4 y | Joint pain (knee) | 14 y | 154 cm, 10th-25th | Yes | Varisation osteotomies of both femoral necks | VSD, “rheumatoid disorder” |
| 3a | M | No | None | 5 y | (Affected brother) | 20 y | 157.5 cm, <3rd | Yes | None | |
| 3b | M | No | Club feet | Birth | Foot deformity | 20 y | 152.4 cm, <3rd | Yes | None | |
| 4a* | F | No | None | Adulthood | Joint pain | Adult | 156.2 cm, 3rd-10th | Not done | None | |
| 4b* | F | No | None | Adulthood | Joint pain | Adult | 156 cm, 3rd-10th | Not done | None | |
| 4c* | F | No | None | Teenager | Joint pain | Adult | 149.9 cm, <3rd | Not done | None | |
| 5a | M | No | None | 12 y | Scoliosis, brachydactyly | 32 y | 170.4 cm, 10th-25th | No | None | |
| 5b | F | No | None | 13 y | Joint pain (knee) | 28 y | 165 cm, 50th | Yes | None | |
| 6a | M | No | Club feet | 46 y | Joint pain (hip), contractures | 49 y | 173 cm, 25th-50th | Not done | Club foot surgery | |
| 6b | F | No | Cleft palate | 12 y | Joint pain (wrist) | 38 y | 158 cm, 10th-25th | Not done | None | |
| 7 | F | No | None | 5 y | Joint pain | 10 y | 130 cm, 3rd-10th | Not done | None | |
| 8 | M | Yes | Cystic swelling of ear, club feet | 4 y | Genua vara | 15 y | 180 cm, 90th | Yes | Several operations for club feet | “Bilateral Perthes’ disease” |
| 9 | F | Yes | Club feet | Birth | Foot deformity | 9 y | 131 cm, 10th-25th | No | Several operations for club feet | |
| 10a | M | No | None | 5 y | Femur fractures | 10 y | 135 cm, 25th | Yes | None | |
| 10b | M | No | None | 4 y | (Affected brother) | 9 y | 129 cm, 10th-25th | Not done | None | |
| 11 | M | Yes | None | 4 y | Finger deformities | 35 y | 149.5 cm, <3rd | No | None | |
| 12† | M | No | Club feet | Childhood | Foot deformity | 36 y | 180 cm, 50th-75th | Yes | Club foot surgery | |
| *Deere et al.23 †Superti-Furga et al.20 | ||||||||||