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Short fetal femur length

MedGen UID:
488932
•Concept ID:
C0743924
•
Finding
Synonyms: Short fetal thigh bone length; Short foetal femur length; Short foetal thigh bone length
 
HPO: HP:0011428

Definition

A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Short fetal femur length

Professional guidelines

PubMed

Clinical value of genetic analysis in prenatal diagnosis of short femur.
Liu J, Huang L, He Z, Lin S, Wang Y, Luo Y
Mol Genet Genomic Med 2019 Nov;7(11):e978. Epub 2019 Sep 30 doi: 10.1002/mgg3.978. PMID: 31566912Free PMC Article
Molecular prenatal diagnosis in 2 pregnancies at risk for spondyloepiphyseal dysplasia congenita.
Xia XY, Cui YX, Huang YF, Pan LJ, Feng Y, Yang B, Li XJ, Zhu PY, Shi YC, Liang Q
Clin Chim Acta 2008 Jan;387(1-2):153-7. Epub 2007 Sep 18 doi: 10.1016/j.cca.2007.09.006. PMID: 17920052
Femur length shortening in the detection of Down syndrome: is prenatal screening feasible?
Nyberg DA, Resta RG, Hickok DE, Hollenbach KA, Luthy DA, Mahony BS
Am J Obstet Gynecol 1990 May;162(5):1247-52. doi: 10.1016/0002-9378(90)90028-6. PMID: 2140237

Recent clinical studies

Etiology

Midtrimester isolated short femur and perinatal outcomes: A systematic review and meta-analysis.
D'Ambrosio V, Vena F, Marchetti C, Di Mascio D, Perrone S, Boccherini C, Pizzuti A, Benedetti Panici P, Giancotti A
Acta Obstet Gynecol Scand 2019 Jan;98(1):11-17. Epub 2018 Oct 31 doi: 10.1111/aogs.13470. PMID: 30252939
Isolated Short Fetal Femur Length in the Second Trimester and the Association with Adverse Perinatal Outcome: Experiences from a Tertiary Referral Center.
Mailath-Pokorny M, Polterauer S, Worda K, Springer S, Bettelheim D
PLoS One 2015;10(6):e0128820. Epub 2015 Jun 5 doi: 10.1371/journal.pone.0128820. PMID: 26046665Free PMC Article

Diagnosis

Isolated Short Fetal Femur Length in the Second Trimester and the Association with Adverse Perinatal Outcome: Experiences from a Tertiary Referral Center.
Mailath-Pokorny M, Polterauer S, Worda K, Springer S, Bettelheim D
PLoS One 2015;10(6):e0128820. Epub 2015 Jun 5 doi: 10.1371/journal.pone.0128820. PMID: 26046665Free PMC Article

Therapy

Midtrimester isolated short femur and perinatal outcomes: A systematic review and meta-analysis.
D'Ambrosio V, Vena F, Marchetti C, Di Mascio D, Perrone S, Boccherini C, Pizzuti A, Benedetti Panici P, Giancotti A
Acta Obstet Gynecol Scand 2019 Jan;98(1):11-17. Epub 2018 Oct 31 doi: 10.1111/aogs.13470. PMID: 30252939

Clinical prediction guides

Isolated Short Fetal Femur Length in the Second Trimester and the Association with Adverse Perinatal Outcome: Experiences from a Tertiary Referral Center.
Mailath-Pokorny M, Polterauer S, Worda K, Springer S, Bettelheim D
PLoS One 2015;10(6):e0128820. Epub 2015 Jun 5 doi: 10.1371/journal.pone.0128820. PMID: 26046665Free PMC Article

Recent systematic reviews

Midtrimester isolated short femur and perinatal outcomes: A systematic review and meta-analysis.
D'Ambrosio V, Vena F, Marchetti C, Di Mascio D, Perrone S, Boccherini C, Pizzuti A, Benedetti Panici P, Giancotti A
Acta Obstet Gynecol Scand 2019 Jan;98(1):11-17. Epub 2018 Oct 31 doi: 10.1111/aogs.13470. PMID: 30252939

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    • ClinVar
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