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Delayed distal femoral epiphyseal ossification

MedGen UID:
1053895
Concept ID:
CN378012
Finding
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

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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