Femoral agenesis/hypoplasia

Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.



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Narrow down the case reports



Total: 9 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(49.1%)
28583062
Multiple Ligament Reconstruction for Absent Cruciate and a Congenital Short Femur Case Report and Review of the Literature.
Kaplan D, Jazrawi T, Capo J, Strauss E.
Bull Hosp Jt Dis (2013). 2017;75(2):143-147.
Short femur
Anterior Cruciate Ligament Femur Homo sapiens Male Orthopedic Procedures Posterior Cruciate Ligament Range of Motion, Articular Reconstructive Surgical Procedures Young Adult
1
(49.1%)
3050811
Pediatric update #4. Familial congenital short femur: intrauterine detection and follow-up by ultrasound. A case report.
Keret D, Timor IE.
Orthop Rev. 1988;17(5):500-4.
Short femur
Child Females Femur Homo sapiens Infant, Newborn Leg Male Osteogenesis Ultrasonography
3
(45.9%)
23276345
Exceptional functional recovery and return to high-impact sports after Van Nes rotationplasty.
Harris JD, Trinh TQ, Scharschmidt TJ, Mayerson JL.
Orthopedics. 2013;36(1):e126-31.
Proximal femoral focal deficiency
Child Femoral Neoplasms Homo sapiens Limb Salvage Male Osteosarcoma Osteotomy Recovery of Function Rotation
4
(39.0%)
3746840
Monozygotic twins concordant for congenital short femur.
Connor JM, Rae PS, Connor RA.
J Med Genet. 1986;23(4):363-4.
Macrocephaly
Femur Homo sapiens Male
5
(32.2%)
18226137
Isolated intrauterine femoral fracture in an otherwise normal fetus.
Arioz DT, Koken GN, Koken R, Kose KC, Cevrioglu AS.
J Obstet Gynaecol Res. 2008;34(1):92-4.
Skeletal dysplasia Fractures of the long bones
Adult Differential Diagnosis Females Femoral Fractures Fetal Diseases Homo sapiens Infant, Newborn Male Pregnancy Pregnancy Trimester, Third Ultrasonography, Prenatal
6
(29.2%)
29561460
(5895312)
Spinal dysraphism and dislocated hip: Beware of anomalous sciatic nerve through Ilium, a case report.
Whitaker AT, Kasser J, Kim YJ.
Medicine (Baltimore). 2018;97(12):e9770.
Tethered cord Acetabular dysplasia
Child, Preschool Congenital Dysplasia Of The Hip Females Homo sapiens Osteotomy Spina Bifida
7
(28.5%)
18600335
Hip and knee dislocation during femoral lengthening in congenital short femur: a rare case report.
Hazra S, Song HR, Jajodia N, Biswal S, Modi HN, Srinivasalu S.
Arch Orthop Trauma Surg. 2009;129(4):425-9.
Joint dislocation Knee dislocation
Child Comorbidity Females Femur Hip Dislocation Homo sapiens Ilizarov Technique Knee Dislocation Leg Length Inequality Psoriasis
8
(21.2%)
29635139
Bilateral absence of the cruciate ligaments with meniscal dysplasia: Unexpected diagnosis in a child with juvenile idiopathic arthritis.
Degnan AJ, Kietz DA, Grudziak JS, Shah A.
Clin Imaging. 2018;49:193-197.
Arthritis
CYREN
Anterior Cruciate Ligament Child Females Femur Homo sapiens Knee Magnetic Resonance Imaging Menisci, Tibial Posterior Cruciate Ligament
9
(4.0%)
27575310
Nodular Proliferation in Parkes Weber Syndrome.
Rojas Esquivel DJ, Marin Manzano E, Concepcion NA, Lopez Gutierrez JC, Riera de Cubas L.
Ann Vasc Surg. 2017;38:321.e1-321.e4.
Overgrowth
CD34 PECAM1 PIK3CA
Adult Antibodies, Monoclonal, Murine-Derived Arteries Biopsy CD31 Antigens CD34 Antigens Cell Proliferation Computed Tomography Angiography Homo sapiens Immunohistochemistry Lower Extremity Male Sturge-Weber Syndrome Vascular Surgical Procedures Veins
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 7

HPO ID Term # of case reports
HP:0001373 Joint dislocation 1
HP:0002144 Tethered cord 1
HP:0004976 Knee dislocation 1
HP:0008807 Acetabular dysplasia 1
HP:0030043 Hip subluxation 1
HP:0030772 Proximal femoral focal deficiency 1
HP:0100242 Sarcoma 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID