Iden | Age (years) | Joints | Spine | Other skeletal features | Height (cm) | Skin | Face | Other problems |
---|---|---|---|---|---|---|---|---|
F1;V:1 | 3 | Restriction of all joint movements since birth. Needs regular analgesics for joint aches and pains | Radiographs of the whole spine not done. CT of the lower spine showed expansion of the fourth coccygeal segment | Short phalanges | NA | Normal | Short narrow palpebral fissures | Presentation with mild global developmental delay and inability to sit because of painful growth at the end of the spine. GOR |
F1;V:2 | 1 | Restriction of all joint movements since birth | Radiographs not done/available | NA | Normal | Short narrow palpebral fissures | Polyhydramnios in utero, normal development | |
F1;IV:3 | 26 | Progressive, stiffness and aching of all joints. Flexion contractures of all IP joints | Radiographs not done/available | 175 | Normal | Short narrow palpebral fissures | None | |
F1;III:4 | 54 | Progressive, stiffness and aching of all joints. Flexion contractures of all IP joints | C2–C3 and C4–C5 fusion. Reduced intervertebral distance of lumbar vertebrae | None | 170 | Mild thickening of palmar skin | Short narrow palpebral fissures | None |
F1;II:3 | 77 | Progressive, stiffness and aching of all joints. Severe deformity of IP and MP joints | Radiographs not done/available | NA | Normal | Short narrow palpebral fissures | GOR, Barret's oesophagus, high-pitched voice | |
F1;IV:2 | 20 | Restriction of all joint movements. Uses crutches because of hip pain | Radiographs not done/available | NA | Normal | Short narrow palpebral fissures | None | |
F2;NA | 27 | Progressive, stiffness and aching of all joints. Flexion contractures of all IP joints | Fusion of C2 and C3 vertebrae | Short broad metacarpals, metatarsals and phalanges | 157.6 (3 cm <0.4th centile) | Thickened skin, especially on plantar and palmar aspects | Short narrow palpebral fissures | None |
F1, family1; F2, family 2; GOR, gastro-oesophageal reflux; Iden, identifiers that match the pedigree in figure 1; IP, interphalangeal; LP, Leri's pleonosteosis; MP, metacarpophalangeal joints; NA, not applicable.