Case 34-2016. A 17-Year-Old Boy with Myopia and Craniofacial and Skeletal Abnormalities

N Engl J Med. 2016 Nov 10;375(19):1879-1890. doi: 10.1056/NEJMcpc1610096.
No abstract available

Publication types

  • Case Reports
  • Clinical Conference

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Bone Density
  • Diagnosis, Differential
  • Funnel Chest / genetics
  • Heart Murmurs / genetics
  • Homocysteine / blood
  • Homocystinuria / diagnosis*
  • Homocystinuria / genetics
  • Homocystinuria / therapy
  • Humans
  • Jaw Abnormalities / genetics
  • Lumbar Vertebrae / diagnostic imaging
  • Male
  • Myopia / genetics*

Substances

  • Homocysteine