Nail-patella syndrome (NPS) is a hereditary
rare disease that can involve
fingernail,
patella,
elbow, and iliac
bones. In this article, we
report a case of a
girl-9 and 1 quarter years old
who had asthmatic
contractures in both elbows, thumbnail hypoplasia in both
hands,
patellar dislocation of both knees, iliac angle protrusion of both sides, and
scoliosis.
Whole exome sequencing suggests the presence of a LMX1B NM_002316.4c.706G > C(p.Ala236Pro)
mutation. NPS is an autosomal dominant
disease associated with
gene mutation of LMX1B, which can be diagnosed by combining the
patient′s clinical manifestations and genetic results. The
treatment now only targets on symptoms, relieving the localized severe lesion but not
cure right now.