Podcast
Questions and Answers
What is a characteristic feature of the skull in individuals with achondroplasia?
What is a characteristic feature of the skull in individuals with achondroplasia?
- Protruding forehead
- Narrow forehead
- Wide sella turcica
- Funnel-shaped foramen magnum (correct)
Which of the following describes the thorax of a person with achondroplasia?
Which of the following describes the thorax of a person with achondroplasia?
- Two distinct costal margins
- Decreased thoracic width
- Long, tapered sternum
- Short ribs with deep concavities (correct)
In the axial skeleton of individuals with achondroplasia, which feature is associated with lumbar spine abnormalities?
In the axial skeleton of individuals with achondroplasia, which feature is associated with lumbar spine abnormalities?
- Anterior vertebral body beak at T12/L1/L2 (correct)
- Consistent pedicular length throughout the lumbar region
- Increased interpedicular distance caudally
- Vertebral bodies with thickened cortical bone
What describes the pelvis in individuals with achondroplasia?
What describes the pelvis in individuals with achondroplasia?
Which of the following describes a feature of the appendicular skeleton in achondroplasia?
Which of the following describes a feature of the appendicular skeleton in achondroplasia?
Flashcards
Achondroplasia: Cause
Achondroplasia: Cause
A genetic disorder affecting bone growth, primarily due to impaired enchondral bone growth and high rates of new mutations.
Achondroplasia: Skull Features
Achondroplasia: Skull Features
Characterized by a large skull, small base, small sella turcica, steep clivus, small foramen magnum, and possible hydrocephalus.
Achondroplasia: Pelvic Features
Achondroplasia: Pelvic Features
Abnormal pelvis, including square ilia, champagne-glass pelvis shape, short sacrosciatic notch, and low sacrum articulation.
Achondroplasia: Limb Features
Achondroplasia: Limb Features
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Achondroplasia: Spine Features
Achondroplasia: Spine Features
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Study Notes
Achondroplasia Overview
- Achondroplasia is a skeletal dysplasia.
- It's an autosomal dominant disorder.
- Eighty percent of cases are due to new mutations.
- It impacts enchondral bone growth.
Skull Characteristics
- Large skull, small base, and sella.
- Steep clivus.
- Small, funnel-shaped foramen magnum.
- Variable hydrocephalus severity.
Thorax Characteristics
- Thick, stubby sternum.
- Short ribs with significant anterior concavities.
Axial Skeleton Characteristics
- Decreasing interpedicular distance in the lumbar spine.
- Short lumbar pedicles and narrow spinal canal.
- Posterior scalloping of vertebrae.
- Anterior vertebral body beak at T12/L1/L2.
- This can lead to a gibbus deformity when sitting.
- The gibbus may reverse and become lumbar hyperlordosis when walking.
Pelvis Characteristics
- Square iliac wings.
- Champagne-glass shaped pelvic cavity.
- Short, narrow sacrosciatic notch.
- Horizontal sacrum articulating low on the iliac bones.
Appendicular Skeleton Characteristics
- Rhizomelic micromelia (shortened long bones).
- Bowed long bones.
- Widened metaphyses.
- Ball-and-socket at epiphyseal/metaphyseal junction.
- Broad and short proximal and middle phalanges.
- Trident-shaped hands.
- Increased angle between middle and ring fingers.
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Description
Explore the distinctive features of achondroplasia, a common skeletal dysplasia. This quiz covers its genetic roots, skull, thorax, axial skeleton, pelvis characteristics, and their implications. Test your knowledge on how these traits affect individuals with this autosomal dominant disorder.
