Dysmelia and Achondroplasia Overview
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Questions and Answers

Which of the following is NOT a condition associated with dysmelia?

  • Achondroplasia (correct)
  • Amelia
  • Syndactyly
  • Polydactyly

Individuals with achondroplasia have a normal intelligence.

True (A)

What is the typical maximal height range in individuals with achondroplasia?

120-125 cm

The fusion of fingers or toes from birth is known as __________.

<p>syndactyly</p> Signup and view all the answers

Match the condition with its description:

<p>Amelia = Absence of a whole extremity Polydactyly = Increase in the number of fingers or toes Oligodactyly = Decrease in the number of fingers or toes Syndactyly = Fusion of fingers or toes from birth</p> Signup and view all the answers

Study Notes

Dysmelia

  • Congenital malformations of the extremities
  • Amelia: Absence of a whole limb
  • Polydactyly: An excess of fingers or toes
  • Oligodactyly: A deficiency of fingers or toes
  • Syndactyly: Fusion of fingers or toes at birth

Achondroplasia

  • A disorder affecting endochondral bone growth
  • Epiphyseal fusion occurs prematurely, impacting longitudinal bone growth
  • Clinical Findings:
    • Disproportionate short stature with the maximum height of 120-125 cm
    • Short, stocky extremities (micromelia) with O-shaped leg alignment
    • Characteristic facial features, including a depressed nasal bridge, a prominent forehead, and a larger skull
    • Joint malformations of the hip with increased lumbar lordosis (curve of the lower back)
    • Spinal stenosis
    • Normal intelligence

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Description

This quiz explores congenital malformations of the extremities, focusing on dysmelia conditions such as amelia, polydactyly, oligodactyly, and syndactyly. It also covers achondroplasia, detailing its effects on bone growth, clinical findings, and characteristic features. Test your knowledge on these important medical conditions.

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