Mucopolysaccharidoses

Case contributed by Charudutt Jayant Sambhaji
Diagnosis certain

Patient Data

Age: 5 years
Gender: Male
x-ray
Lateral
Frontal
Lateral
Frontal
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Info
  • the skull shows macrocephaly and J-shaped sella

  • the hand radiograph shows proximal pointing metacarpals

  • the dorsolumbar spine radiograph shows hypoplastic vertebrae with anterior beaking of the inferior end plates

  • the pelvis radiograph shows hypoplasia of the base of the ilia with enlargement of the acetabulum and coxa valga

Case Discussion

Features are suggestive of mucopolysaccharidoses.

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