2. Congenital Limb Deformities:
Congenital limb deformities are birth defects in which a
fetus’s limbs do not form properly while in uterus
Following are the possibilities
• A baby may be have missing limbs
• A baby may be have extra limb
• Over growth of limb
• Under growth of limb
• fingers or toes may fail to separate
7. CLEFT HAND AND FOOT
Consist of a cleft between 2nd
and 4th Metacarpal bone
3rd metacarpal is absent
Thumb, index finger ,4th and 5th finger is fused
CAUSES :
Mutation in the HOXD13 gene results in hand – foot –genital syndrome
9. OSTEOGENESIS IMPERFECTA:
Shortening ,bowing and hypomineralization
Of long bones
It can cause fractures
Causes:
Mutation in COL1A1 OR COL1A2 gene
that form type 1 collagen
10. MARFAN SYNDROME :
Individuals are long slender
Long thin limbs
Long thin face
CAUSES:
Mutation in fibrillin
CLUB FOOT :
Foot pointed downward
Foot is rotated toward the other foot
Cause : mutation of PITX1 gene
11. CONGENITAL ABSENCE OF RADIUS :
Radius is absent
CRANIOSYNOSTOSIS RADIAL APLASIA SYNDROME :
(Beller Gerold syndrome)
They have stenosis of one or more
Cranial sutures
Absence of radius
12. TRANSVERSE LIMB DEFICIENCIES :
Proximal structures are intact
Structures distal to transverse plane are
Partially or completely absent
CAUSES :
Vascular thrombosis
Vasoconstriction
CONGENITAL HIP DISLOCATION :
Under development of acetabulum
And head of femur
Common in female newborns
Occur after birth
