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. Author manuscript; available in PMC: 2018 Sep 17.
Published in final edited form as: Ann Hum Genet. 2018 Jan 10;82(3):129–134. doi: 10.1111/ahg.12233

TABLE 1.

Clinical description of the two affected individuals (V-1 and V-4)

Clinical examination V-l V-4 Normal population
Status Affected Affected Normal
Age 30 24 49
Married Yes No Yes
Sex Male Male Male
Total height (cm) 141 140 165–175
Head circumference (cm) 53 53 53–54
Total arm length (cm) 46 38 65–69
Total humerus length (cm) 25 17 31–33
Length of radius/ulna (cm) 21 21 24–26
Radii bowing Yes Yes No
Wrist size (cm) 14 16.5 13–15
Total leg length (cm) 71 60 83–93
Length of femur (cm) 36 31 42–47
Length of tibia/fibula (cm) 36 29 41–46
Tibia/fibula bowing No Yes No