“ This is the most common, lethal micromelic dwarfism. It is inherited in an autosomal dominant pattern. X-rays are post-mortem. SKULL X-...
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This is the most common, lethal micromelic dwarfism. It is inherited in an autosomal dominant pattern. X-rays are post-mortem.
• Premature fusion of the sutures—‘cloverleaf skull’ (Kleeblattschadel)
• Large skull
• Small foramen magnum
• Small face
• Depressed nasal bridge
CHEST X-RAY
• Short, horizontal ribs and narrowed thorax.
• Costochondral junctions are widened and cupped.
SPINE X-RAY
• Severe platyspondyly, ‘wafer thin’ on lateral
• ‘H-shaped’ vertebral bodies on AP radiograph
PELVIS X-RAY
• Short iliac bones
• Horizontal acetabular roofs
• Short and broad ischial bones
LIMB X-RAY
• Marked micromelia
• Irregular flared metaphyses
• Bowed ‘telephone receiver’ femora (in some)
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