FRCS Paediatric Ortho — improved notes
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079. Nail patella syndrome

visual-inline rebuild2 extracted figuresspeaker notes XML15 study lines1 Q&A

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Clean FRCS notes with inline figures

Nail patella syndrome

Radiograph / imaging
Fig 1. Radiograph / imagingtop left
Radiograph / imaging
Fig 2. Radiograph / imagingmiddle left
•AD, LMX1B mutation (Lim homeobox transcription factor 1b)
•Type 5 collagen abnormality
•Problem with progress zone Wnt in limb bud (controlling ventral-dorsal relationship)
•Diagnostic Tetrad
•Atrophic nails (usually thumb)
•Hypoplastic/ absent patella “Empty trochlear groove”
•Iliac horns (pathognomonic, 80%)
•Hypoplastic radial head +/- subluxation → FFC
•Also assess for external tibial torsion, thickened tight ITB and lateral retinaculum, and tight quadriceps
•Association: glaucoma, nephropathy

Other conditions with congenital patellar dislocation:

•Larson syndrome
•Arthrogryposis
•Down syndrome

Direct Q&A

Q1 What are the diagnostic findings and management points for Nail patella syndrome?

Nail patella syndrome

•AD, LMX1B mutation (Lim homeobox transcription factor 1b)
•Type 5 collagen abnormality
•Problem with progress zone Wnt in limb bud (controlling ventral-dorsal relationship)
•Diagnostic Tetrad
•Atrophic nails (usually thumb)
•Hypoplastic/ absent patella “Empty trochlear groove”
•Iliac horns (pathognomonic, 80%)
•Hypoplastic radial head +/- subluxation → FFC
•Also assess for external tibial torsion, thickened tight ITB and lateral retinaculum, and tight quadriceps
•Association: glaucoma, nephropathy

Other conditions with congenital patellar dislocation:

•Larson syndrome
•Arthrogryposis
•Down syndrome

Raw speaker-note hierarchy audit

#lvlmarLindentlogicaloriginal note line
10NoneNone0Nail patella syndrome
20NoneNone0AD, LMX1B mutation (Lim homeobox transcription factor 1b)
30NoneNone0Type 5 collagen abnormality
40NoneNone0Problem with progress zone Wnt in limb bud (controlling ventral-dorsal relationship)
50000Diagnostic Tetrad
60228600-2286001Atrophic nails (usually thumb)
70228600-2286001Hypoplastic/ absent patella “Empty trochlear groove”
80228600-2286001Iliac horns (pathognomonic, 80%)
90228600-2286001Hypoplastic radial head +/- subluxation → FFC
100000Also assess for external tibial torsion, thickened tight ITB and lateral retinaculum, and tight quadriceps
110000Association: glaucoma, nephropathy
120000Other conditions with congenital patellar dislocation:
130171450-1714501Larson syndrome
140171450-1714501Arthrogryposis
150171450-1714501Down syndrome

Improved semantic hierarchy used for the study notes

#semantic levelsection?rewritten line
10Nail patella syndrome
21AD, LMX1B mutation (Lim homeobox transcription factor 1b)
31Type 5 collagen abnormality
41Problem with progress zone Wnt in limb bud (controlling ventral-dorsal relationship)
51Diagnostic Tetrad
61Atrophic nails (usually thumb)
71Hypoplastic/ absent patella “Empty trochlear groove”
81Iliac horns (pathognomonic, 80%)
91Hypoplastic radial head +/- subluxation → FFC
101Also assess for external tibial torsion, thickened tight ITB and lateral retinaculum, and tight quadriceps
111Association: glaucoma, nephropathy
120yesOther conditions with congenital patellar dislocation:
131Larson syndrome
141Arthrogryposis
151Down syndrome
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