Dysplasia Syndromes

Mucopolysaccharidoses and Morquio dysplasia

MPS skeletal features, Morquio syndrome diagnosis and survival into adulthood.

10 questions 2 source pages

Images appear with the first question taken from each source page — tap a question to open it.

Q1What clinical features suggest mucopolysaccharidosis?▸

Proportional dwarfism; coarse facies, hypertelorism, short nasal bridge, broad mouth, wide gap between teeth
Short neck, kyphoscoliosis
UL: carpal tunnel syndrome
LL: genu valgum, joint contracture (laxity in Morquio)
Also pectus carinatum, organomegaly

Q2Describe the XR features of MPS.▸

C spine: odontoid hypoplasia with C1/2 instability
TL spine: kyphoscoliosis, bullet-shaped vertebra
UL: bullet-shaped phalanges
Hips: wine glass pelvis (broad flat ilium, inferior constriction), coxa vara, dysplastic hip
Knees: genu valgum

Q3What is the underlying defect and inheritance of MPS?▸

Lysosomal enzyme deficiency with aggregation of partially degraded glycosaminoglycan
Disrupts the hypertrophic zone in the physis
AR, except Hunter's (X-linked recessive)

Q4How is MPS diagnosed?▸

Q5Which MPS is most likely to survive into adulthood and what are the clues?▸

Q6How many mucopolysaccharidoses are there and how are they diagnosed?▸

Q7What enzyme deficiencies cause Morquio and which is more severe?▸

Q8What accumulates in Morquio and when does it present?▸

Q9What are the clinical features of Morquio?▸

Q10Describe the XR features of Morquio.▸

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