Achondroplasia

ACHONDROPLASIA


ACHONDROPLASIA

  • Achondroplasia is an autosomal dominant genetic abnormality.
  • It is the most common form of dwarfism.
  • It has abnormality in limb length with enlarged head.
  • According to the autosomal dominant inheritance pattern the chances of having an unaffected baby is 25%.

Pathology

  • Caused due to fibroblast growth factor receptor 3 (FGFR3) which inhibits growth plate chondrocytes.
  • Length of long bones stunded
  • Effects all bones developed by endochondral ossification.

Clinical features-

  • Classic achondroplastic dwarfism-
  1. Short limbs
  2. Normal trunk
  3. Enlarged head
  4. Flattened root of the nose
  • Bow legged appearance

Investigations-

  • Radiograph shows short tubular bone with wide metaphysic.
  • Trident hand is seen.
  • Champagne glass pelvis appearance.

Treatment-

  • Corrective osteotomies- joint alignment
  • Limb lengthening surgery
  • Surgical decompression

Exam Important

  • Achondroplasia is an autosomal dominant genetic abnormality.
  • It is the most common form of dwarfism.
  • It has abnormality in limb length with enlarged head.
  • According to the autosomal dominant inheritance pattern the chances of having an unaffected baby is 25%

Pathology

  • Caused due to fibroblast growth factor receptor 3 (FGFR3) which inhibits growth plate chondrocytes.

Investigations-

  • Radiograph shows short tubular bone with wide metaphysic.
  • Trident hand is seen.
  • Champagne glass pelvis appearance.
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