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. Author manuscript; available in PMC: 2012 Sep 27.
Published in final edited form as: J Med Genet. 2008 Jun 25;45(10):609–621. doi: 10.1136/jmg.2008.058743

Table 7.

Skeletal and dental abnormalities (n=46) in reported trichothiodystrophy patients

Patients
No. (%)
Radiographic bone abnormality 43 (38)
 Osteosclerosis* 16 (14)
 Delayed bone age 14 (13)
 Osteopenia 10 (9)
 Kyphosis 7 (6)
 Coxa valga 4 (4)
 Other 8 (7)
Joint abnormality 15 (13)
 Contractures 8 (7)
 Joint dislocation 4 (4)
 Other§ 7 (6)
Tooth abnormality 23 (21)
 Caries 21 (19)
 Enamel hypoplasia 4 (4)
 Other 4 (4)
 Normal teeth 18 (16)
Normal or no skeletal or tooth abnormality reported 66 (59)
Total 112 (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).