Table 4

Summary of clinical features

Clinical featureCS-A*CS-B*Wilson et alKubota et al
Growth failure28/29 (97)66/67 (99)10036/36 (100)
Low birth weight7/25 (28)24/48 (50)0
Cachexia26/27 (96)55/56 (98)38/39 (97)
Mental retardation27/27 (100)55/57 (96)41/41 (100)
Microcephaly26/27 (96)55/57 (96)100
Cataracts12/22 (54)34/49 (69)4820/31 (65)
Microphthalmia2/16 (12.5)13/33 (39)
Retinal degeneration10/18 (55)16/30 (53)4325/28 (89)
Deafness15/21 (71)26/43 (60)4428/31 (90)
Photosensitivity17/23 (74)38/50 (76)4734/37 (92)
Dental anomalies11/14 (78)17/25 (68)4618/25 (72)
CSA/CSB mutations39/39 (100)85/85 (100)39/40 (98)§
  • *Number of cases with indicated feature/total number for whom we have relevant information (% in parentheses).

  • †Data, expressed as %, from Wilson et al.4

  • ‡Data from Kubota et al.3

  • §Molecular analysis only available from 40 families—39 were mutated in CSA or CSB, 1 was mutated in XPD.

  • The data present a summary from tables 1 and 2.