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Table 1 Clinical manifestations in affected individual of family SYD07

From: Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report

Abnormalities Patients
III:1 III:4 III:5 IV:2 IV:3
Age (Years) 32 26 24 11 7
Sex Male Female Female Female Male
Height (cm) with 132 125 128 119. 108
Standard Deviation (SD) −5.1 −5.0 −4.6 −4.3 −3.7
Short Stature + + + + +
Short trunk + + + + +
Short neck + + + + +
Hearing deficit + +
Vision impairment +
Dysmorphic face + + +
Flat feet +
Joint mobility limitation + +
  1. (+ present, − absent)