WordNet
- the outer and thinner of the two bones of the human leg between the knee and ankle (同)calf_bone
PrepTutorEJDIC
- (下腿部の)腓骨(ひこつ)
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/05/23 09:04:53」(JST)
[Wiki en表示]
| Fibular hemimelia |
| Classification and external resources |
Hemimelia in an amphibian affecting both calf and foot on one side |
| ICD-10 |
Q73.8 |
| DiseasesDB |
33931 |
| MeSH |
D004480 |
Fibular hemimelia or longitudinal fibular deficiency is "the congenital absence of the fibula and it is the most common congenital absence of long bone of the extremities."[1] [2] It is the shortening of the fibula at birth, or the complete lack thereof. In humans, the disorder can be noted by ultrasound in utero to prepare for amputation after birth or complex bone lengthening surgery. The amputation usually takes place at six months with removal of portions of the legs to prepare them for prosthetic use. The other treatments which include repeated corrective osteotomies and leg-lengthening surgery are costly and associated with residual deformity.[3]
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Contents
- 1 Characteristics
- 2 Causes
- 3 Notable people
- 4 See also
- 5 References
- 6 External links
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Characteristics [edit]
Bones of human lower extremity
Characteristics are:
- A fibrous band instead of the fibula
- Short deformed leg
- Absence of the lateral part of the ankle joint (due to absence of the distal end of the fibula), and what is left is unstable; the foot has an equinovalgus deformity
- Possible absence of part of the foot requiring surgical intervention to bring the foot into normal function, or amputation.
Partial or total absence of fibula is among the most frequent limb anomalies. It is the most common long bone deficiency and is the most common skeletal deformity in the leg. It most often is unilateral (present only on one side). Paraxial fibular hemimelia is the most common manifestation in which only the postaxial portion of the limb is affected. It is commonly seen as complete terminal deficiency, where the lateral rays of the foot are also affected. Hemimelia can also be intercalary in which case the foot remains unaffected. Although the missing bone is easily identified, this condition is not simply a missing bone. [2] Males are affected twice as often as females in most series.[clarification needed][4]
Causes [edit]
The cause of fibular hemimelia is unclear at this time. Purportedly, there have been some incidents of genetic distribution in a family; however, this does not account for all cases. Maternal viral infections, embryonic trauma, teratogenic environmental exposures or vascular dysgenesis (failure of the embryo to form a satisfactory blood supply) between four and seven weeks gestation are considered possible causes.[5]
Notable people [edit]
- Oscar Pistorius - South African Paralympic and Olympic athlete
- Aimee Mullins - American Paralympic athlete, actress, and fashion model
- Jessica Long - American Paralympic swimmer
See also [edit]
- Congenital abnormality
- List of congenital disorders
- ICD-10 Chapter Q: Congenital malformations, deformations and chromosomal abnormalities
- List of ICD-9 codes 740-759: Congenital anomalies
- Mitochondrial disease
References [edit]
- ^ Eze, KC; Akhigbe, AO; Awosanya, GO (2007). "Fibular hemimelia: A case report". Nigerian journal of clinical practice 10 (3): 259–61. PMID 18072458.
- ^ a b Achterman, C; Kalamchi, A (1979 May). "Congenital deficiency of the fibula.". The Journal of bone and joint surgery. British volume 61–B (2): 133–7. PMID 438260.
- ^ Stanitski, DF; Stanitski, CL (2003). "Fibular hemimelia: A new classification system". Journal of pediatric orthopedics 23 (1): 30–4. PMID 12499939.
- ^ "Fibular Hemimelia: (longitudinal fibular deficiency) - Wheeless' Textbook of Orthopaedics". Wheelessonline.com. 2011-03-30. Retrieved 2012-08-03.
- ^ "Fibular Hemimelia". orpha.net. Retrieved 2013-02-24.
External links [edit]
- Journal of Joint Bone Surgery 1997 Jan;79(1):58-65.
- North American Reporting Center for Amphibian Malformations (NARCAM) Jul. 2011
- Minnesota's Malformed Frogs Jul. 2011
- Studies offer new insights into causes of deformed frogs Jul. 2011
- Deformed Frogs Raise Concerns Jul. 2011
- Deformed Frog Pictures Jul. 2011
- http://www.wheelessonline.com/ortho/fibular_hemimelia_longitudinal_fibular_deficiency
- http://www.sonoworld.com/TheFetus/page.aspx?id=342
- http://www.jbjs.org.uk/cgi/content/abstract/49-B/1/59
- Severe tibial growth retardation in total fibular hemimelia after limb lengthening. Journal of Pediatric Orthopaedics, 2003 http://www.jbjs.org.uk/cgi/reprint/79-B/1/58
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Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65–Q76, 754–756.3)
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Appendicular
limb / dysmelia |
| Upper |
| clavicle / shoulder: |
- Cleidocranial dysostosis
- Sprengel's deformity
- Wallis Zieff Goldblatt syndrome
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|
| hand deformity: |
- Madelung's deformity
- Clinodactyly
- Oligodactyly
- Polydactyly
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|
| Lower |
| hip: |
- Dislocation of hip / Hip dysplasia
- Upington disease
- Coxa valga
- Coxa vara
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|
| knee: |
- Genu valgum
- Genu varum
- Genu recurvatum
- Discoid meniscus
- Congenital patellar dislocation
- Congenital knee dislocation
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|
| foot deformity: |
- varus
- valgus
- Pes cavus
- Rocker bottom foot
- Hammer toe
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|
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| Either / both |
| dactyly / digit: |
- Polydactyly / Syndactyly
- Arachnodactyly
- Cenani Lenz syndactylism
- Ectrodactyly
- Brachydactyly
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|
| reduction deficits / limb: |
- Acheiropodia
- ectromelia
- Phocomelia
- Amelia
- Hemimelia
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| multiple joints: |
- Arthrogryposis
- Larsen syndrome
- Rapadilino syndrome
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|
|
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| Axial |
| Craniofacial |
| Craniosynostosis: |
- Scaphocephaly
- Oxycephaly
- Trigonocephaly
|
|
| Craniofacial dysostosis: |
- Crouzon syndrome
- Hypertelorism
- Hallermann–Streiff syndrome
- Treacher-Collins syndrome
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| other: |
- Macrocephaly
- Platybasia
- Craniodiaphyseal dysplasia
- Dolichocephaly
- Greig cephalopolysyndactyly syndrome
- Plagiocephaly
- Saddle nose
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|
|
| Vertebral column |
- spinal curvature
- Klippel–Feil syndrome
- Spondylolisthesis
- Spina bifida occulta
- Sacralization
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| Thoracic skeleton |
| ribs: |
|
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| sternum: |
- Pectus excavatum
- Pectus carinatum
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|
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|
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noco (arth/defr/back/soft)/cong, sysi/epon, injr
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Congenital abnormality · multiple abnormalities (Q87, 759.7)
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| Craniofacial |
Acrocephalosyndactylia (Apert syndrome/Pfeiffer syndrome, Saethre–Chotzen syndrome, Carpenter syndrome, Sakati–Nyhan–Tisdale syndrome)
other: Möbius syndrome · Goldenhar syndrome · Cyclopia
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| Short stature |
1q21.1 deletion syndrome · Aarskog–Scott syndrome · Cockayne syndrome · Cornelia de Lange Syndrome · Dubowitz syndrome · Noonan syndrome · Robinow syndrome · Silver–Russell syndrome · Seckel syndrome · Smith–Lemli–Opitz syndrome · Turner syndrome
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| Limbs |
Adducted thumb syndrome · Holt–Oram syndrome · Klippel–Trénaunay–Weber syndrome · Nail–patella syndrome · Rubinstein–Taybi syndrome
Gastrulation/mesoderm: Caudal regression syndrome · ectromelia (Sirenomelia) · VACTERL association
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| Overgrowth |
Beckwith–Wiedemann syndrome · Sotos syndrome · Weaver syndrome · Perlman syndrome
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| Laurence–Moon–Bardet–Biedl |
Bardet–Biedl syndrome · Laurence–Moon syndrome
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Combined/other,
known locus |
3 (Zimmerman–Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) · 12 (Keutel syndrome, Timothy syndrome) · 15 (Marfan syndrome) · 19 (Donohue syndrome)
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UpToDate Contents
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English Journal
- Proximal femoral focal deficiency and fibular hemimelia associated with misoprostol use: a case report.
- Marchese JW, Mullen MG, Doherty JH Jr.SourceThe Commonwealth Medical College, Scranton, Pennsylvania 18509, USA. jmarchese@tcmedc.org
- Clinical dysmorphology.Clin Dysmorphol.2012 Oct;21(4):229-30. doi: 10.1097/MCD.0b013e3283590a95.
- PMID 22922315
Japanese Journal
- 川端 秀彦,田村 大資,和田 麻由子,高木 瑠以子
- 日本小児整形外科学会雑誌 = Journal of Japanese Paediatric Orthopaedic Association 16(2), 224-227, 2007-09-15
- NAID 10025702028
- Achterman-Kalamchi 分類 type II 型腓骨列欠損に対する治療と問題点
- 高橋 光彦,松井 好人,油形 公則,大歯 浩一,安井 夏生
- 日本創外固定・骨延長学会雑誌 = The journal of the Japanese Association of External Fixation and Limb Lengthening 17, 33-37, 2006-03-01
- NAID 10025767357
Related Links
- Fibular hemimelia was described initially as a condition that is related to aplasia or hypoplasia of the fibula. As is evidenced by its historic name, the fibular abnormality is a primary feature of this condition and may range ...
- Fibular Hemimelia information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis. ... Fibular Hemimelia: Introduction Fibular Hemimelia: A medical term for a ...
★リンクテーブル★
[★]
半肢症、半肢
- 関
- amelia、ectromelia、phocomelia、sirenomelia
[★]
- 関
- calf bone、fibula、peroneal