p.Arg332Trp |
Syndactyly type I, postaxial partial
syndactyly, flexion deformity of finger 2, Postaxial syndactyly
(fingers 3–4) with almost fused nail beds, finger 5 clinodactyly,
polydactyly type 1. |
Ugur and Tolun (2008)
|
p.Thr329Arg |
Syndactyly of radial ray and a rudimentary
finger, pre-axial syndactyly of toe 1–2, post-axial syndactyly of
toe 3–4 complex duplication of digit 3–4, Post-axial syndactyly of
toe 3–4, absence of toe 2, digit 2 hypoplasia, agenesis of radial
ray along with digit 1, pre-axial polydactyly type 1, Agenesis of
distal ray at metacarpophalangeal joint level, fixed flexion
contracture of both 4–5 digit at proximal interphalangeal joint
level. |
Khan et al.
(2012)
|
p.Lys388Glufs*36, p.Leu103Argfs*53 |
Central and pre- axial syndactyly,
campodactyly, polydactyly, dysplastic (abnormal development) hands
and cleft feet, hallux valgus deformity of big toe and rudimentary
bud of lesser toes. |
Aziz et al.
(2014)
|
p.Gln154* |
Mesoaxial type of syndactyly, pre-axial
syndactyly of index finger and thumb at distal phalanx, cleft hand
deformity with absence of middle finger, Aplasia of distal phalanx
of the middle finger, hallux valgus deformities of big toe, missing
central toes, missing of great thumb |
Present study |
p.Leu103Argfs*53 |
Syndactyly of the great thumb and
2nd toe in feet and an additional rudimentary bud on
3rd toe, hypoplasia of 1st metacarpal,
complex fusion of middle to ring finger, aplasia of middle phalanx
of 3rd finger, bilateral hypoplasia and fusion of the
3rd and 4th finger, fingers with
contractures and deviations, central deficiency and varus deformity
of lesser toe, claw toe deformity. |
Present study |