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Delayed tibial epiphyseal ossification

MedGen UID:
1054875
Concept ID:
CN378013
Finding
HPO: HP:6000867

Definition

Developmental delay of ossification of an epiphysis of the tibia. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDelayed tibial epiphyseal ossification

Conditions with this feature

Achondrogenesis type II
MedGen UID:
66315
Concept ID:
C0220685
Congenital Abnormality
Achondrogenesis type II (ACG2) is characterized by severe micromelic dwarfism with small chest and prominent abdomen, incomplete ossification of the vertebral bodies, and disorganization of the costochondral junction. ACG2 is an autosomal dominant trait occurring mostly as new mutations. However, somatic and germline mosaicism have been reported (summary by Comstock et al., 2010).

Recent clinical studies

Etiology

Vergara-Amador E, Davalos Herrera D, Moreno LÁ
Radiologia 2016 Jul-Aug;58(4):294-300. Epub 2016 Feb 22 doi: 10.1016/j.rx.2016.01.005. PMID: 26917430
Freitas FR, Capelo LP, O'Shea PJ, Jorgetti V, Moriscot AS, Scanlan TS, Williams GR, Zorn TM, Gouveia CH
J Bone Miner Res 2005 Feb;20(2):294-304. Epub 2004 Nov 22 doi: 10.1359/JBMR.041116. PMID: 15647824

Diagnosis

Craig JG, van Holsbeeck M, Zaltz I
Skeletal Radiol 2002 Apr;31(4):208-13. Epub 2002 Jan 30 doi: 10.1007/s00256-001-0464-x. PMID: 11904688
Beltran J, Rosenberg ZS, Kawelblum M, Montes L, Bergman AG, Strongwater A
Skeletal Radiol 1994 May;23(4):277-81. doi: 10.1007/BF02412361. PMID: 8059253
Ogden JA, Lee J
J Pediatr Orthop 1990 May-Jun;10(3):306-16. doi: 10.1097/01241398-199005000-00003. PMID: 2113062
Burnstein MI, De Smet AA, Breed AL, Thomas JR, Hafez GR
Skeletal Radiol 1989;18(2):121-5. doi: 10.1007/BF00350660. PMID: 2717950
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

Desai MH, Fyfe N
J Pediatr Orthop B 2009 Nov;18(6):339-40. doi: 10.1097/BPB.0b013e32832feeff. PMID: 19701103

Prognosis

Stanitski DF, Stanitski CL, Trumble S
J Pediatr Orthop 1999 Mar-Apr;19(2):265-9. doi: 10.1097/00004694-199903000-00025. PMID: 10088701
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

Levin TL, Schulman M, Zieba P, Goldman HS
J Perinatol 1994 Mar-Apr;14(2):106-9. PMID: 8014691
Burnstein MI, De Smet AA, Breed AL, Thomas JR, Hafez GR
Skeletal Radiol 1989;18(2):121-5. doi: 10.1007/BF00350660. PMID: 2717950
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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