Hyperostosis Corticalis Generalisata, benign form of worth with Torus Palatinus

Hyperostosis Corticalis Generalisata, benign form of worth with Torus Palatinus: This condition is characterized by cortical thickening of the long bones without alteration in external shape and a remarkable resistance to bone fractures. This disorder has a late age of onset with the facial metamorphoses occurring in adolescence. These metamorphoses include a flattened forehead, elongated mandible, and a decreased gonial angle. An enlarged torus palatinus develops in the hard palate which can lead to malocclusion of the teeth. Radiographs reveal increased density of the calvarium, mandible, and endosteal surface of the long bones (Van Wesenbeeck et al., 2003).

Tests Available

Forms and Documents

Test Details

LRP5
  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Differentiation of FEVR from retinopathy of prematurity (ROP) and Coats disease
  • Prenatal diagnosis in families, in which the pathogenic mutation(s) have been identified
  • Capillary Sequencing

Ordering

3272
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
  • 362.13 Changes in vascular appearance, Vascular sheathing of retina
  • 362.12 Exudative retinopathy Coats' syndrome
  • 362.16 Retinal neovascularization NOS, Neovascularization: choroidal subretinal
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References

  1. Kondo H et al., (2003) Br J Ophthalmol 87:1291–95
  2. Toomes C et al., (2004) Am J Hum Genet 74:721–30
  3. Jiao X et al., (2004) Hum Genet 75:878–884
  4. Nallathambi J et al., (2006) Mol Vis 12:1086–92
  5. Qin M et al., (2005) Hum Mutat 26:104-12
  6. Ai M et al., (2005) Am J Hum Genet 77:741-753
  7. Gong Y et al., (2001) Cell 107:513-523
  8. Janssens K et al., (2002) Hum Mol Genet 11:2385-93
  9. Van Wesenbeek L et al., (2003) Am J Hum Genet 72:763-771
  10. Chung B et al., (2009) Hum Mutat 30:641-648
  11. Balemans W et al., (2007) Endocrinology 148:2622-2629
  12. Hartikka H et al., (2005) J Bone Miner Res 20:783–789
  13. Crabbe P et al., (2005) J Bone Miner Res 20:1951–1959