Presentation
Although it has not been reported in pet rabbits, hemimelia should be considered in the young of this species that present with lameness. [pubag.nal.usda.gov]
A four-month-old male intact domestic shorthair kitten was presented for deformity of the right thoracic limb. Severe carpal varus was noted, and palpation of the ventral thorax revealed the sternum to be divided caudally. [experts.illinois.edu]
Pollicisation is used if an absent thumb is present. Related Radiopaedia articles Promoted articles (advertising) [radiopaedia.org]
Materials and methods: This is a case report of a stillbirth pig, which was presented with a swelling on the frontal part of the skull, and a number of other musculoskeletal defects. [jms.periodikos.com.br]
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Cardiovascular
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Cardiomegaly
Prenatal ultrasound demonstration of scoliosis, absence of one rib, a radial club hand, congenital heart defects and absent stomach in a fetus with VACTERL association. ( 22482989 ) Chen C.P....Wang W. 2012 3 Bilateral radial hemimelia, polydactyly and cardiomegaly [malacards.org]
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome X-linked intellectual disability-acromegaly-hyperactivity syndrome X-linked intellectual disability-ataxia-apraxia syndrome X-linked intellectual disability-cardiomegaly-congestive [se-atlas.de]
Musculoskeletal
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Hip Pain
Utilize the very latest approaches in hip surgery including hip resurfacing, hip preservation surgery, and treatment of hip pain in the young adult; and get the latest information on metal-on-metal hips so you can better manage patients with these devices [books.google.com]
Psychiatrical
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Distractibility
[…] using external fixator in radial club hand. ( 18977832 ) Kanojia R.K....Kapoor S.K. 2008 5 Use of the Ilizarov method of distraction osteogenesis for the treatment of radial hemimelia in a dog. ( 15646574 ) 2005 6 Radiological findings in three cases [malacards.org]
This was corrected using gradual soft tissue distraction with an Ilizarov fixator. Complete correction of the hand deformity was achieved over a period of 4–6 weeks. [online.boneandjoint.org.uk]
When using the distraction techniques instances of physeal distraction have been reported. These can be managed by immediate removal of fixator and immobilization in POP cast. [ijpoonline.com]
Distraction and microvascular epiphysis transfer for radial club hand. J Hand Surg Br. 1998 Aug. 23 (4):445-52. [Medline]. de Jong JP, Moran SL, Vilkki SK. [emedicine.medscape.com]
Face, Head & Neck
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Cleft Lip and-or Palate
Tibial hemimelia-cleft lip/palate in a Brazilian child born to consanguineous parents. Am J Med Genet. 1987; 28: 325–9. [PubMed]. [jemds.com]
Urogenital
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Anorchia
Keywords meningoencephalocele, anorchia, hemimelia, anophthalmos, pig [jms.periodikos.com.br]
Neurologic
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Paresthesia
At the time of follow-up examination no patient had residual pain or paresthesias. In four of five patients, although ulnar lengthening resulted in somewhat stiffer digits, it improved function of the extremity as a whole. [ncbi.nlm.nih.gov]
The elbow is fully flexed for five minutes and the test is positive when there is initiation or aggravation of numbness and/or paresthesiae in the ulnar nerve distribution. 1, record 2, English, - elbow%20flexion%20test Record 2, French Record 2, Domaine [btb.termiumplus.gc.ca]
Workup
Laboratory studies Laboratory workup may identify genetic or other abnormalities in patients with dysmorphic features, but are not indicated in the absence of syndromic features, including most CLDs. [now.aapmr.org]
Treatment
Thumb reconstruction is usually delayed until after forearm treatment. [ijpoonline.com]
Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.com]
This establishes a baseline for assessing treatment outcome. The ability to flex the elbow for hand-to-mouth function is examined; this influences the treatment algorithm. [emedicine.medscape.com]
Treatment selection depends on the degree of the deformity and the reduction of limb function. [unboundmedicine.com]
Treatment usually includes surgery to help make the affected arm more functional. Amputation to remove the affected forearm may be recommended in severe cases. If your child has been diagnosed with RH, talk to a doctor about all treatment options. [diseaseinfosearch.org]
Prognosis
[…] radius 3 Associations Holt-Oram syndrome Roberts syndrome Rothmund-Thomson syndrome thrombocytopenia-absent radius (TAR) syndrome (in which characteristically the thumb is present) Townes-Brocks syndrome VACTERL association Fanconi anemia Treatment and prognosis [radiopaedia.org]
In case of syndromic presentation, prognosis depends on the nature of the associated anomalies. (Source: Orphanet) Link: Fibular hemimelia [dysnet.org]
Associated syndrome Children with Fanconi anemia, a pancytopenia of early childhood, have a very poor prognosis, and death usually occurs 2 to 3 years after onset of the disease.. 33. [slideshare.net]
Early ( 0 to 3 months of age ) Treatment begins with counseling about nature and prognosis, when the child presents at birth to ensure a less drop- out rate and eradication of emotional and social stigma. [ijpoonline.com]
Patient & family education The physiatrist explains the diagnosis and functional prognosis. Education is part of every encounter. [now.aapmr.org]
Etiology
Etiology The etiology remains unknown. The deformities are believed to develop early in pregnancy, between the 28th and 56th day of gestation. [orpha.net]
Exact etiology has not been proved though uterine compression, vascular injury and certain maternal drug consumption have been postulated. [radiopaedia.org]
Figure 2 DISCUSSION: The limb defects appear to have a multifactorial etiology, arising from an interaction between environmental influences, teratogenic exposure and the individual's genetic makeup. [jemds.com]
Mobius’ syndrome: features and etiology. J Pediatr Ophthalmol Strabismus. 1998; 35(6):304–311. Ordal L, Keunen J, et al. Congenital limb deficiencies with vascular etiology: Possible association with maternal thrombophilia. [now.aapmr.org]
Epidemiology
[…] longitidinal meromelia, bilateral Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]
Summary Epidemiology It occurs in 1/30,000-100,000 live births, and is slightly more common in males than in females (sex ratio of 3:2). [orpha.net]
Epidemiology. 2002; 13: 485–8. [PubMed]. 12. Erickson RP. Agenesis of tibia with bifid femur, congenital heart disease, and cleft lip with cleft palate or tracheoesophageal fistula: Possible variants of Gollop-Wolfgang complex. [jemds.com]
From Wynne-Davies and Lamb, "There remains, however, a basicneed to search for the cause...of some upper limb defects by means of clinical, genetic, and epidemiologic evidence. [anatomyatlases.org]
Epidemiology including risk factors and primary prevention Congenital limb deficiencies impact 5 to 9.7 births for every 10,000 live births. [now.aapmr.org]
Pathophysiology
Further studies are warranted on the pathophysiology of longitudinal limb defects to propose better therapeutic and surgical options for the subjects. Author contributions MA ascertained the case and helped in data collection. [ncbi.nlm.nih.gov]
The exact pathophysiology of amniotic band syndrome remains controversial. [now.aapmr.org]
Prevention
The argument for this being that the stability that this affords to the reduction is very much needed for preventing recurrence. [ijpoonline.com]
Compensatory movements are noted to prevent inadvertent disruption of these adaptive mannerisms with surgical intervention. [emedicine.medscape.com]
Epidemiology including risk factors and primary prevention Congenital limb deficiencies impact 5 to 9.7 births for every 10,000 live births. [now.aapmr.org]
Hyperextension instability at the index metacarpophalangeal joint is prevented by positioning the metacarpal head in 70 to 80 degrees of hyperextension before fixation. [slideshare.net]