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2016 ; 2
(ä): 26
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Nail-patella-syndrome in a young patient followed up over 10 years: relevance of
the sagittal trochlear septum for patellofemoral pathology
#MMPMID27247258
Konrads C
; Reppenhagen S
; Plumhoff P
; Rudert M
; Steinert A
; Barthel T
SICOT J
2016[]; 2
(ä): 26
PMID27247258
show ga
INTRODUCTION: Nail-patella-syndrome (NPS) is a rare autosomal-dominant inherited
disease with pathologies of nails, skeleton, kidneys, and eyes. Linkage to a
mutated gene was found. It codes for the transcription-factor LMX1B. In most
cases knees are symptomatic. Patients have hypoplastic patellae, which are
laterally subluxated. In those individuals a sagittal trochlear fibrous septum
was found, dividing the anterior knee-joint-space. In the literature the etiology
and clinical significance of this anatomic abnormality is unclear. Based on
clinical and intraoperative findings we developed a theory regarding knee
pathology in nail-patella-syndrome. Successful treatment via early resection of
the septum with sustained good outcome is presented. METHODS: In a symptomatic
six-year-old boy with nail-patella-syndrome we resected the fibrous sagittal
septum adherent to the trochlea femoris and we balanced the patella via lateral
release and medial plication in both knee joints. We analyzed the clinical
outcome of this procedure prospectively over 10 years. RESULTS: Postoperatively
the hypoplastic patellae stayed centered and stable during further skeletal
development. The patient was still pain free with normal range of motion of both
operated knee joints after 10 years of follow-up. DISCUSSION: In patients with
nail-patella-syndrome and a subluxated or dislocated patella we recommend
diagnostics with magnetic-resonance-imaging and early surgical treatment via
resection of the trochlear septum and soft-tissue-balancing of the patella. When
the septum displaces the patella and prevents physiological articulation of the
patella with the trochlea femoris, early septum resection is likely to be
important for a good functional outcome and proper development of the
patellofemoral joint during growth.