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Spinal dysplasia

MedGen UID:
867475
•Concept ID:
C4021853
•
Disease or Syndrome
HPO: HP:0008423

Definition

The presence of developmental dysplasia of the vertebral column. [from HPO]

Conditions with this feature

Spinal dysplasia, Anhalt type
MedGen UID:
318632
•Concept ID:
C1832464
•
Disease or Syndrome
See: Condition Record
Spinal dysplasia, Anhalt type

Professional guidelines

PubMed

Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management.
Solanki GA, Martin KW, Theroux MC, Lampe C, White KK, Shediac R, Lampe CG, Beck M, Mackenzie WG, Hendriksz CJ, Harmatz PR
J Inherit Metab Dis 2013 Mar;36(2):339-55. Epub 2013 Feb 6 doi: 10.1007/s10545-013-9586-2. PMID: 23385297Free PMC Article

Recent clinical studies

Etiology

Spondylometaphyseal dysplasia, east-African type: a new form of early, severe SMD with rounded vertebrae.
Verloes A, Lepage P, Baumann C, Maroteaux P, Merrer ML
Am J Med Genet 2002 Dec 15;113(4):362-6. doi: 10.1002/ajmg.b.10738. PMID: 12457408

Diagnosis

Spondylometaphyseal dysplasia, east-African type: a new form of early, severe SMD with rounded vertebrae.
Verloes A, Lepage P, Baumann C, Maroteaux P, Merrer ML
Am J Med Genet 2002 Dec 15;113(4):362-6. doi: 10.1002/ajmg.b.10738. PMID: 12457408

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