Prader-Willi syndrome: systemic features

Evidence-based neurology checklist on prader-willi syndrome: systemic features: Skeletal features Short stature Small hands and feet Scoliosis Hip dysplasia Straight ulnar border of hands Osteoporosis Endocrine features Ophthalmic features Cardiorespiratory features Other systemic features

Skeletal features

  • Short stature
  • Small hands and feet
  • Scoliosis
  • Hip dysplasia
  • Straight ulnar border of hands
  • Osteoporosis

Endocrine features

Ophthalmic features

Cardiorespiratory features

Other systemic features

References

  1. Butler MG, Manzardo AM, Forster JL. Prader-Willi syndrome: clinical genetics and diagnostic aspects with treatment approaches. Curr Pediatr Rev 2016; 12:136-166. 
  2. Cassidy SB, Driscoll DJ. Prader-Willi syndrome. Eur J Hum Genet 2009; 17:3-13.
  3. Angulo MA, Butler MG, Cataletto ME. Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings. J Endocrinol Invest 2015; 38:1249-1263.
  4. Irizarry KA, Miller M, Freemark M, Haqq AM. Prader Willi syndrome: genetics, metabolomics, hormonal function, and new approaches to therapy. Adv Pediatr 2016; 63:47-77.
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