Pollicisation is used if an absent thumb is present. Quiz questions References Related articles: Limb deformities Promoted articles (advertising) [radiopaedia.org]

In mild cases, only a minor shortening of the radius is present. In the most severe cases in contrast, the radius is completely absent (including presence of aberrant muscles, nerves, tendons, ligaments and blood vessels). [orpha.net]

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]

It presents as shortening of upper limb, rigid elbow, ulnar clubbing and coalition or absence of metacarpals. [clinicsinsurgery.com]

Hand anomalies were only present in the mother and youngest daughter; atrial septal defect was present in all 3 children; electrocardiographs aberrations were present in all 4 affected members. Dermatoglyphs showed abnormal patterns in all patients. [eurekamag.com]

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]

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]

Thumb reconstruction is usually delayed until after forearm treatment. [ijpoonline.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. [globalgenes.org]

Eilidh talks about the diagnosis and treatment of her daughter Niamh: Diagnosis and causes Severe cases are likely to be seen at scans during pregnancy. [stepsworldwide.org]

No initial treatment for this is provided but ligament reconstruction should be considered if the patient begins to develop problems of knee instability. [paleyinstitute.org]

Prognosis The prognosis is generally good. If an early individualized treatment plan is followed a good clinical outcome can be achieved. [orpha.net]

[…] 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]

Etiology The etiology remains unknown. The deformities are believed to develop early in pregnancy, between the 26th and 52th day of gestation. The disorder is being caused by reduction in FGF function. [orpha.net]

Exact etiology has not been proved though uterine compression, vascular injury and certain maternal drug consumption have been postulated. [radiopaedia.org]

The etiology of fibular hemimelia is unclear, but several theories, such as an absent anterior tibial artery, can lead to defects in muscle development and flaws in the apical ectodermal ridge [3]. [ncbi.nlm.nih.gov]

Children with fibular hemimelia present with three major complaints: Limb length discrepancy Foot and ankle deformities Knee deformity For more information on the etiology and treatment of fibular hemimelia, please see our Fibular Hemimelia FAQ. [paleyinstitute.org]

Pan African Medical Journal. 2022;42(128). 10.11604/pamj.2022.42.128.35766 Articles from The Pan African Medical Journal are provided here courtesy of African Field Epidemiology Network [ncbi.nlm.nih.gov]

Summary Epidemiology The disorder occurs in 1/5,000-30,000 live births, and is slightly more common in males than in females (sex ratio of 3:2). [orpha.net]

[…] 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]

Epidemiology Incidence is estimated at 1/100,000-150,000 live births, with a male to female ratio of 3:2. [pacs.de]

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]

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]

The argument for this being that the stability that this affords to the reduction is very much needed for preventing recurrence. [ijpoonline.com]

When the lateral malleolus is present, it buttresses the talus (ankle bone) and prevents it from coming out of the joint. When it is missing, this stabilizing effect is absent. [paleyinstitute.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]

Compensatory movements are noted to prevent inadvertent disruption of these adaptive mannerisms with surgical intervention. [emedicine.medscape.com]

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]