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Shortening of the talar neck

MedGen UID:
375330
Concept ID:
C1843985
Finding
HPO: HP:0008117

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVShortening of the talar neck

Conditions with this feature

Familial X-linked hypophosphatemic vitamin D refractory rickets
MedGen UID:
196551
Concept ID:
C0733682
Disease or Syndrome
The phenotypic spectrum of X-linked hypophosphatemia (XLH) ranges from isolated hypophosphatemia to severe lower-extremity bowing. XLH frequently manifests in the first two years of life when lower-extremity bowing becomes evident with the onset of weight bearing; however, it sometimes is not manifest until adulthood, as previously unevaluated short stature. In adults, enthesopathy (calcification of the tendons, ligaments, and joint capsules) associated with joint pain and impaired mobility may be the initial presenting complaint. Persons with XLH are prone to spontaneous dental abscesses; sensorineural hearing loss has also been reported.

Professional guidelines

PubMed

Kubisa MJ, Kubisa MG, Pałka K, Sobczyk J, Bubieńczyk F, Łęgosz P
Medicina (Kaunas) 2024 Oct 15;60(10) doi: 10.3390/medicina60101692. PMID: 39459479Free PMC Article
Maceroli MA, Wong C, Sanders RW, Ketz JP
J Orthop Trauma 2016 Oct;30(10):572-8. doi: 10.1097/BOT.0000000000000601. PMID: 27082938

Recent clinical studies

Etiology

Maceroli MA, Wong C, Sanders RW, Ketz JP
J Orthop Trauma 2016 Oct;30(10):572-8. doi: 10.1097/BOT.0000000000000601. PMID: 27082938
Crim JR, Kjeldsberg KM
AJR Am J Roentgenol 2004 Feb;182(2):323-8. doi: 10.2214/ajr.182.2.1820323. PMID: 14736655
Hardy DC, Murphy WA, Siegel BA, Reid IR, Whyte MP
Radiology 1989 May;171(2):403-14. doi: 10.1148/radiology.171.2.2539609. PMID: 2539609

Diagnosis

Kubisa MJ, Kubisa MG, Pałka K, Sobczyk J, Bubieńczyk F, Łęgosz P
Medicina (Kaunas) 2024 Oct 15;60(10) doi: 10.3390/medicina60101692. PMID: 39459479Free PMC Article
Godoy-Santos AL, Albuquerque DM, Diniz-Fernandes T, Rammelt S
Arch Orthop Trauma Surg 2013 Sep;133(9):1267-71. Epub 2013 Jun 20 doi: 10.1007/s00402-013-1791-9. PMID: 23784318
Crim JR, Kjeldsberg KM
AJR Am J Roentgenol 2004 Feb;182(2):323-8. doi: 10.2214/ajr.182.2.1820323. PMID: 14736655
Hardy DC, Murphy WA, Siegel BA, Reid IR, Whyte MP
Radiology 1989 May;171(2):403-14. doi: 10.1148/radiology.171.2.2539609. PMID: 2539609

Clinical prediction guides

Crim JR, Kjeldsberg KM
AJR Am J Roentgenol 2004 Feb;182(2):323-8. doi: 10.2214/ajr.182.2.1820323. PMID: 14736655

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