🧬 Chapter 739 · Disorders Involving Transcription Factors

Nelson Textbook of Pediatrics 22nd Edition | Campomelic dysplasia (SOX9): bowing of long bones (especially tibias/femurs), Pierre Robin sequence, respiratory distress, sex reversal (46,XY female). Usually lethal. Cleidocranial dysplasia (RUNX2): patent fontanelles, hypoplastic/absent clavicles, supernumerary teeth, short stature. SHOX-related conditions (pseudoautosomal): Leri-Weill dyschondrosteosis (mesomelia, Madelung deformity), idiopathic short stature. Nail-patella syndrome (LMX1B): nail hypoplasia, absent/hypoplastic patellae, iliac horns, nephritis (30%, end-stage renal disease in 5%).

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📋 30 Clinical Scenarios — Transcription Factor Disorders

📇 High‑Yield Review Cards

🩺 Clinical Recognition: Transcription Factor Disorders

Select a presentation to review diagnostic clues and management per Nelson Ch 739.

📋 Stepwise Management of Transcription Factor Disorders

🔑 Key Principles — Nelson Chapter 739
• Campomelic dysplasia (SOX9): Bowed long bones (anterior tibial bowing), Pierre Robin sequence (micrognathia, cleft palate), respiratory distress, sex reversal (46,XY female). Most cases lethal (neonatal respiratory failure). Survivors: cervical instability, scoliosis, developmental delay.
• Cleidocranial dysplasia (RUNX2): Patent fontanelles, hypoplastic/absent clavicles (shoulders can be opposed midline), supernumerary teeth, short stature, wormian bones. Autosomal dominant.
• SHOX-related conditions (pseudoautosomal): Leri-Weill dyschondrosteosis (mesomelic shortening, Madelung deformity). Idiopathic short stature. Growth hormone may be used.
• Nail-patella syndrome (LMX1B): Nail hypoplasia/dysplasia, absent/hypoplastic patellae, iliac horns (pathognomonic), nephritis (30%, ESRD 5%), glaucoma.

    ⚡ Reflex Prompts — Clinical Decisions

    📖 Summary: Transcription Factor Disorders (Nelson 739)