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Delayed proximal femoral epiphyseal ossification

MedGen UID:
343298
Concept ID:
C1855222
Finding
Synonyms: Delayed ossification of proximal femoral epiphyses; Delayed ossification proximal femoral epiphyses
 
HPO: HP:0008828

Definition

Developmental delay of ossification of the proximal epiphysis of the femur. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDelayed proximal femoral epiphyseal ossification

Conditions with this feature

Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
MedGen UID:
865814
Concept ID:
C4017377
Disease or Syndrome
Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.

Recent clinical studies

Etiology

Sullivan S, Flavel A, Franklin D
Forensic Sci Int 2017 Dec;281:185.e1-185.e10. Epub 2017 Oct 16 doi: 10.1016/j.forsciint.2017.10.010. PMID: 29108763
Oh CW, Thacker MM, Mackenzie WG, Riddle EC
Clin Orthop Relat Res 2006 Jun;447:125-31. doi: 10.1097/01.blo.0000203476.81302.24. PMID: 16505708
Shebib SM, Chudley AE, Reed MH
Pediatr Radiol 1991;21(4):298-300. doi: 10.1007/BF02018630. PMID: 1870932
O'Brien T, Waldron B
Ir Med J 1989 Jun;82(2):56-9. PMID: 2759821

Diagnosis

Bernaerts A, Pouillon M, De Ridder K, Vanhoenacker F
JBR-BTR 2006 Nov-Dec;89(6):325-7. PMID: 17274592
Roposch A, Wedge JH, Krahn MD
Clin Orthop Relat Res 2006 Aug;449:295-302. doi: 10.1097/01.blo.0000223975.13960.2d. PMID: 16702915
Khermosh O, Wientroub S
J Bone Joint Surg Br 1991 Jul;73(4):621-5. doi: 10.1302/0301-620X.73B4.1906473. PMID: 1906473
O'Brien T, Waldron B
Ir Med J 1989 Jun;82(2):56-9. PMID: 2759821
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

Prognosis

Sullivan S, Flavel A, Franklin D
Forensic Sci Int 2017 Dec;281:185.e1-185.e10. Epub 2017 Oct 16 doi: 10.1016/j.forsciint.2017.10.010. PMID: 29108763
Oh CW, Thacker MM, Mackenzie WG, Riddle EC
Clin Orthop Relat Res 2006 Jun;447:125-31. doi: 10.1097/01.blo.0000203476.81302.24. PMID: 16505708
Stanitski DF, Stanitski CL, Trumble S
J Pediatr Orthop 1999 Mar-Apr;19(2):265-9. doi: 10.1097/00004694-199903000-00025. PMID: 10088701
Shebib SM, Chudley AE, Reed MH
Pediatr Radiol 1991;21(4):298-300. doi: 10.1007/BF02018630. PMID: 1870932
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

Sullivan S, Flavel A, Franklin D
Forensic Sci Int 2017 Dec;281:185.e1-185.e10. Epub 2017 Oct 16 doi: 10.1016/j.forsciint.2017.10.010. PMID: 29108763
Kitoh H, Kitakoji T, Katoh M, Takamine Y
J Bone Joint Surg Br 2003 Jan;85(1):121-4. doi: 10.1302/0301-620x.85b1.13426. PMID: 12585590
Levin TL, Schulman M, Zieba P, Goldman HS
J Perinatol 1994 Mar-Apr;14(2):106-9. PMID: 8014691
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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