๐Ÿฆด Chapter 741 ยท Other Inherited Disorders of Skeletal Development

Nelson Textbook of Pediatrics 22nd Edition | Ellis-van Creveld (chondroectodermal dysplasia, EVC/EVC2): short limbs, polydactyly, nail dysplasia, congenital heart disease (ASD, common atrium). Jeune asphyxiating thoracic dystrophy (DYNC2H1): narrow thorax, respiratory insufficiency, polydactyly, renal dysfunction. Cartilage-hair hypoplasia (RMRP): metaphyseal dysplasia, short stature, fine sparse hair, immunodeficiency (varicella susceptibility), Hirschsprung disease. Metatropic dysplasia (TRPV4): severe kyphoscoliosis, dumbbell bones, cervical instability. Fibrodysplasia ossificans progressiva (FOP, ACVR1): heterotopic ossification, great toe malformation. Caffey disease (infantile cortical hyperostosis, COL1A1): episodic cortical thickening, mandible swelling.

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๐Ÿ“‹ 30 Clinical Scenarios โ€” Other Inherited Skeletal Disorders

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๐Ÿฉบ Clinical Recognition: Other Inherited Skeletal Disorders

Select a presentation to review diagnostic clues and management per Nelson Ch 741.

๐Ÿ“‹ Stepwise Management of Other Inherited Skeletal Disorders

๐Ÿ”‘ Key Principles โ€” Nelson Chapter 741
โ€ข Ellis-van Creveld (EVC/EVC2): Short limbs (mesomelic/acromelic), polydactyly (postaxial), nail dysplasia, tooth anomalies (natal teeth, hypodontia), congenital heart disease (ASD, common atrium โ€” 60%). Autosomal recessive. Amish founder effect.
โ€ข Jeune asphyxiating thoracic dystrophy (DYNC2H1): Narrow thorax (long, narrow), respiratory distress, polydactyly, short ribs, trident acetabulum, renal cystic disease (progressive). Autosomal recessive.
โ€ข Cartilage-hair hypoplasia (RMRP): Metaphyseal dysplasia, short stature (disproportionate), fine sparse hair, immunodeficiency (T-cell defect, varicella risk), Hirschsprung disease, anemia. Autosomal recessive.
โ€ข Metatropic dysplasia (TRPV4): Severe kyphoscoliosis, dumbbell-shaped long bones, platyspondyly, cervical instability (odontoid hypoplasia). Autosomal dominant.
โ€ข Fibrodysplasia ossificans progressiva (FOP, ACVR1): Heterotopic ossification (muscles, tendons), great toe malformation (short, valgus). Avoid IM injections, biopsy. Autosomal dominant.
โ€ข Caffey disease (infantile cortical hyperostosis, COL1A1): Episodic cortical thickening, mandible swelling, fever, irritability. Self-limited. Autosomal dominant.

    โšก Reflex Prompts โ€” Clinical Decisions

    ๐Ÿ“– Summary: Other Inherited Skeletal Disorders (Nelson 741)