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 | + | + | – | – | – |