Table 7 Skeletal and dental abnormalities (n = 46) in reported trichothiodystrophy patients
Patients No. (%)
Radiographic bone abnormality43 (38)
    Osteosclerosis*16 (14)
    Delayed bone age14 (13)
    Osteopenia10 (9)
    Kyphosis7 (6)
    Coxa valga4 (4)
    Other†8 (7)
Joint abnormality15 (13)
    Contractures‡8 (7)
    Joint dislocation4 (4)
    Other§7 (6)
Tooth abnormality23 (21)
    Caries21 (19)
    Enamel hypoplasia4 (4)
    Other¶4 (4)
    Normal teeth18 (16)
Normal or no skeletal or tooth abnormality reported66 (59)
Total112 (100)

  • *4 patients had both osteosclerosis and osteopenia.

  • †Pectus excavatum (3 patients), scoliosis (2), hallux valgus (2), bilateral hammer toe deformities (2).

  • ‡Contractures of hips and knees (3), and hands (3).

  • §Clinodactyly of 5th finger, short limbs, tapering fingers, syndactly, joint hypermobility.

  • ¶Dystrophic teeth (2) and hypoplastic teeth (enamel not specified) (2).