Table 3.

Comparison of clinical findings in PYCR1-mutated patients presented here and patients from previous studies as summarized before (Dimopoulou et al. 2013)

	Our study	Previous studies Dimopoulou et al. (%)
Wrinkled skin	86% (6/7)	~ 100
Joint hypermobility	71% (5/7)	~ 100
Typical facial gestalt	100% (8/8)	~ 100
Intrauterine growth retardation	100% (7/7)	~ 90
Psychomotor retardation	100% (6/6)	~ 90
Osteopenia	14% (1/7)	~ 75
Thin/translucent skin	100% (8/8)	~ 75
Microcephaly	100% (7/7)	~ 75
Postnatal growth retardation	60% (3/5)	~ 75
Muscular hypotonia	100% (7/7)	~ 70
Contractures	25% (2/8)	~ 50
Hernias	43% (3/7)	~ 35
Blue sclera	0% (0/7)	~ 30
Strabismus	14% (1/7)	~ 30
Cataract/corneal opacities	14% (1/7)	~ 10