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Delayed calcaneal ossification

MedGen UID:
870286
Concept ID:
C4024728
Finding
Synonym: Delayed heel bone maturation
 
HPO: HP:0008142

Definition

Delayed maturation and calcification of the calcaneus. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDelayed calcaneal ossification

Conditions with this feature

Spondyloepiphyseal dysplasia congenita
MedGen UID:
412530
Concept ID:
C2745959
Congenital Abnormality
Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

Recent clinical studies

Etiology

Li SQ, Nicholson AD, Cooperman DR, Liu RW
J Pediatr Orthop 2019 Jan;39(1):46-50. doi: 10.1097/BPO.0000000000001058. PMID: 29166293
Achter A, Hager T, Fimmers R, Gembruch U, Müller AM
Arch Gynecol Obstet 2016 Aug;294(2):251-9. Epub 2015 Nov 30 doi: 10.1007/s00404-015-3971-z. PMID: 26620204
Stapleton JJ, Belczyk R, Zgonis T, Polyzois VD
Clin Podiatr Med Surg 2009 Apr;26(2):325-33. doi: 10.1016/j.cpm.2009.01.001. PMID: 19389602
Cormier-Daire V, Savarirayan R, Unger S, Rimoin DL, Lachman RS
Pediatr Radiol 2001 Jan;31(1):38-42. doi: 10.1007/s002470000354. PMID: 11200997

Diagnosis

Blythe CS, Reynolds MS, Gregory LS
J Anat 2022 Aug;241(2):484-499. Epub 2022 Apr 25 doi: 10.1111/joa.13677. PMID: 35468228Free PMC Article
Achter A, Hager T, Fimmers R, Gembruch U, Müller AM
Arch Gynecol Obstet 2016 Aug;294(2):251-9. Epub 2015 Nov 30 doi: 10.1007/s00404-015-3971-z. PMID: 26620204
Stapleton JJ, Belczyk R, Zgonis T, Polyzois VD
Clin Podiatr Med Surg 2009 Apr;26(2):325-33. doi: 10.1016/j.cpm.2009.01.001. PMID: 19389602
Gentili P, Trasimeni A, Giorlandino C
J Ultrasound Med 1984 May;3(5):193-7. doi: 10.7863/jum.1984.3.5.193. PMID: 6726877

Therapy

Cormier-Daire V, Savarirayan R, Unger S, Rimoin DL, Lachman RS
Pediatr Radiol 2001 Jan;31(1):38-42. doi: 10.1007/s002470000354. PMID: 11200997

Prognosis

Blythe CS, Reynolds MS, Gregory LS
J Anat 2022 Aug;241(2):484-499. Epub 2022 Apr 25 doi: 10.1111/joa.13677. PMID: 35468228Free PMC Article
Stapleton JJ, Belczyk R, Zgonis T, Polyzois VD
Clin Podiatr Med Surg 2009 Apr;26(2):325-33. doi: 10.1016/j.cpm.2009.01.001. PMID: 19389602
Gentili P, Trasimeni A, Giorlandino C
J Ultrasound Med 1984 May;3(5):193-7. doi: 10.7863/jum.1984.3.5.193. PMID: 6726877

Clinical prediction guides

Blythe CS, Reynolds MS, Gregory LS
J Anat 2022 Aug;241(2):484-499. Epub 2022 Apr 25 doi: 10.1111/joa.13677. PMID: 35468228Free PMC Article
Cormier-Daire V, Savarirayan R, Unger S, Rimoin DL, Lachman RS
Pediatr Radiol 2001 Jan;31(1):38-42. doi: 10.1007/s002470000354. PMID: 11200997
Gentili P, Trasimeni A, Giorlandino C
J Ultrasound Med 1984 May;3(5):193-7. doi: 10.7863/jum.1984.3.5.193. PMID: 6726877

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