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Soft-tissue changes (glaucoma) and
renal
involvement
(30-50%) have also been
associated with the syndrome. Nephropathy
secondary to long-standing proteinuria
ultimately affects mortality more so than any
musculoskeletal problem. After making
diagnosis, orthopedic surgeon must refer the
patient to GP for further evaluation. Blood
pressure measurement and urinalysis to screen
for renal disease are recommended and patient
should be referred to a nephrologist if any
abnormalities. Screening for
glaucoma
should
be referred to an ophthalmologist. Regular
surveillance of the syndrome is required.
Because of similarities between syndromes,
differential diagnoses of NPS are sometime
clearly difficult! (Table 1).
2) Small patella syndrome
(SPS) also called
ischiopatellar dysplasia, coxopodo patellar
syndrome, or Scott-Taor syndrome, is a rare
autosomal dominant disorder. This bone
dysplasia is characterized by patellar a/
hypoplasia and pelvic anomalies, including
bilateral absent or delayed ossification of the
ischiopubic junction and infra-acetabular
axe cut notches
(fig. 5). Other major signs are a
wide gap between the first and second toes,
short fourth and fifth rays of the feet, and pes
planus. Various other skeletal anomalies have
been reported, such as elongated femoral necks,
flattened and widened proximal femoral
epiphyses, hypoplasia of the lesser trochanter,
and tarsal anomalies. At contrary to NPS, no
nails change, iliac horn, elbow anomaly, or renal
disease is associated with this condition [3].
Fig. 5: Small patella syndrome (SPS): pelvic anomalies on AP X-ray, including bilateral
absent ossification of the ischiopubic junction (arrow), infra-acetabular axe cut
notches (arrow) and elongated femoral necks (up). Permanent patellar dislocation on
the left side not yet treated, right side had been reduced surgically after lateral
release, Judet quadriceps desinsertion, Grammont procedure, MPFL reconstruction
and patelloplasty… (down).