Winchester syndrome
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Introduction
Winchester syndrome & NAO syndrome are allelic disorders that form a continuous clinical spectrum.
Genetics
- autosomal recessive
- associated with defects in MMP2
Clinical manifestations
- severe with generalized osteolysis & osteopenia
- subcutaneous nodules are usually absent
- variable features (not always present)
- coarse face
- corneal opacities
- patches of thickened, hyperpigmented skin
- hypertrichosis
- gum hypertrophy