spondyloepimetaphyseal dysplasia Pakistani type
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Pathology
- bone disease
- epiphyseal dysplasia with mild metaphyseal abnormalities
Genetics
- associated with defects in PAPSS2
Clinical manifestations
- short stature evidenced at birth
- short & bowed lower limbs,
- mild brachydactyly
- kyphoscoliosis
- abnormal gait
- enlarged knee joints
- some patients may manifest premature pubarche & hyperandrogenism associated
- skeletal dysplasia & short stature