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Table 2 Developmental and ophthalmological features in XP-CS

From: Xeroderma pigmentosum-Cockayne syndrome complex

Growth and development

#/total (percent)

Intellectual disability

38/38 (100)

Stature ≤3rd percentile

33/34 (97)

Delayed speech development

18/19 (95)

Delayed or absent development of motor skills

25/28 (89)

Failure to thrive

28/32 (88)

Cryptorchidism

9/11 (82)

Hypogonadism (male or female)

8/11 (73)

Low birthweight

14/20 (70)

Preterm birth (gestational age <37 completed weeks)

3/14 (21)

Ophthalmological

 Sunken/deep-set eyes

24/26 (92)

 Microphthalmia

10/14 (71)

 Pigmentary retinopathy

12/18 (67)

 Cataracts

9/20 (45)