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Delayed distal femoral epiphyseal ossification

MedGen UID:
1863849
Concept ID:
C5937579
Anatomical Abnormality
HPO: HP:6000866

Definition

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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDelayed distal femoral 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

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

Mégarbané A, Mehawej C, El Zahr A, Haddad S, Cormier-Daire V
Am J Med Genet A 2014 Apr;164A(4):1010-4. Epub 2014 Jan 23 doi: 10.1002/ajmg.a.36372. PMID: 24458487
Desai MH, Fyfe N
J Pediatr Orthop B 2009 Nov;18(6):339-40. doi: 10.1097/BPB.0b013e32832feeff. PMID: 19701103
Mégarbané A, Dagher R, Melki I
Am J Med Genet A 2008 Nov 15;146A(22):2916-9. doi: 10.1002/ajmg.a.32540. PMID: 18925669
Paesano PL, Vigone MC, Siragusa V, Chiumello G, Del Maschio A, Mora S
Pediatr Radiol 1998 Aug;28(8):622-6. doi: 10.1007/s002470050432. PMID: 9716638
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

Mégarbané A, Dagher R, Melki I
Am J Med Genet A 2008 Nov 15;146A(22):2916-9. doi: 10.1002/ajmg.a.32540. PMID: 18925669
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
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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