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Lumbar kyphosis in infancy

MedGen UID:
354980
Concept ID:
C1863423
Finding
Synonyms: Hunched back in infancy; Round back in infancy
 
HPO: HP:0008414

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLumbar kyphosis in infancy

Conditions with this feature

Achondroplasia
MedGen UID:
1289
Concept ID:
C0001080
Congenital Abnormality
Achondroplasia is the most common cause of disproportionate short stature. Affected individuals have rhizomelic shortening of the limbs, macrocephaly, and characteristic facial features with frontal bossing and midface retrusion. In infancy, hypotonia is typical, and acquisition of developmental motor milestones is often both aberrant in pattern and delayed. Intelligence and life span are usually near normal, although craniocervical junction compression increases the risk of death in infancy. Additional complications include obstructive sleep apnea, middle ear dysfunction, kyphosis, and spinal stenosis.

Recent clinical studies

Etiology

Detweiler S, Thacker MM, Hopkins E, Conway L, Gripp KW
Am J Med Genet A 2013 Aug;161A(8):1940-9. Epub 2013 Jun 27 doi: 10.1002/ajmg.a.36047. PMID: 23813656
Aström E, Jorulf H, Söderhäll S
Arch Dis Child 2007 Apr;92(4):332-8. Epub 2006 Nov 17 doi: 10.1136/adc.2006.096552. PMID: 17114205Free PMC Article

Diagnosis

Malagelada F, Sewell MD, Fahmy A, Gibson A
Spine J 2015 Apr 1;15(4):e19-23. Epub 2014 Dec 6 doi: 10.1016/j.spinee.2014.12.005. PMID: 25485486
Detweiler S, Thacker MM, Hopkins E, Conway L, Gripp KW
Am J Med Genet A 2013 Aug;161A(8):1940-9. Epub 2013 Jun 27 doi: 10.1002/ajmg.a.36047. PMID: 23813656

Therapy

Aström E, Jorulf H, Söderhäll S
Arch Dis Child 2007 Apr;92(4):332-8. Epub 2006 Nov 17 doi: 10.1136/adc.2006.096552. PMID: 17114205Free PMC Article

Prognosis

Malagelada F, Sewell MD, Fahmy A, Gibson A
Spine J 2015 Apr 1;15(4):e19-23. Epub 2014 Dec 6 doi: 10.1016/j.spinee.2014.12.005. PMID: 25485486
Detweiler S, Thacker MM, Hopkins E, Conway L, Gripp KW
Am J Med Genet A 2013 Aug;161A(8):1940-9. Epub 2013 Jun 27 doi: 10.1002/ajmg.a.36047. PMID: 23813656

Clinical prediction guides

Aström E, Jorulf H, Söderhäll S
Arch Dis Child 2007 Apr;92(4):332-8. Epub 2006 Nov 17 doi: 10.1136/adc.2006.096552. PMID: 17114205Free PMC Article

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