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Congenital Deformities of Limbs


Presentation

  • Congenital Hand Deformities Congenital hand deformities are deformities of the hand or any part of hand that are present at birth. These deformities can be particularly disabling as the hands are important for the child for its interaction.[michaelbellemore.com]
  • Case Report: We present a rare case of 4 year old female child who presented to our department with the absence of distal humerus, elbow joint, forearm and hand since birth.[casereports.in]
  • Limb deformity or leg length discrepancy can be present from birth (congenital) or acquired (a result of an injury, infection or tumor).[cincinnatichildrens.org]
  • Congenital deformities of the lower limbs are the developmental disorders which are present at birth and cause alteration in the shape and appearance of the legs. The exact cause for this is not known.[limblengthening.com.au]
  • Limb Deformities :: Little Leaguerâ s Elbow :: Lower Limb Deformities :: Upper Extremities Limb deformities can be congenital- present at birth or may occur at a later stage as a result of fracture, infection, arthritis or tumor.[englewoodortho.com]
Infertility
  • […] syndrome Ramos-Arroyo syndrome Rare bone disease Rare circulatory system disease Rare developmental defect during embryogenesis Rare endocrine disease Rare genetic bone development disorder Rare genetic disease Rare gynecologic or obstetric disease Rare infertility[se-atlas.de]
Morning Sickness
  • Thalidomide related deformity of limbs: Thalidomide is a drug used for morning sickness in pregnant women which is currently banned for use because of its teratogenic effects i.e. severe birth defects in children such as incomplete or abnormal development[michaelbellemore.com]
  • It was hailed as a "wonder drug" to treat conditions such as insomnia, morning sickness and depression and licensed in the UK in 1958.[theguardian.com]
  • Taking Thalidomide for morning sickness while pregnant was identified as a cause of limb defects and taken off the market in 1961; however, it is still controversially prescribed for treatment of other conditions.[aboutbirthdefects.org]
Thumb Hypoplasia
  • Radial clubhand includes a wide spectrum of disorders that encompass absent thumb, thumb hypoplasia, thin first metacarpal and absent radius.[sonoworld.com]

Treatment

  • Treatment Your doctor may suggest the following treatments based on your child’s age, health conditions, cause of the condition, and tolerance to specific medications, procedures, or therapies.[michaelbellemore.com]
  • We will also inform you of all treatment options available and why we recommend one treatment over another.[texaschildrens.org]
  • Treatment goals can vary for each child.[stanfordchildrens.org]
  • For What Conditions TSF treatment is used? TSF can be used for the treatment of congenital condition a term used to describe any condition that is present at birth.[chennaimedtour.com]

Prognosis

  • Prognosis A congenital limb deficiency has a profound effect on the life of the child and his or her parents.[healthofchildren.com]
  • Prognosis A congenital limb deficiency has a profound effect on the life of the child and parents. However, occupational therapy can help the child learn to accomplish many tasks.[medical-dictionary.thefreedictionary.com]
  • There is a variable phenotypic expression and, consequently, the prognosis varies from neonatal death, due to pulmonary hypoplasia, to normal survival.[sonoworld.com]

Etiology

  • With transverse or longitudinal deficiency, depending on the etiology, infants may also have hypoplastic or bifid bones, synostoses, duplications, dislocations, or other bony defects; for example, in proximal femoral focal deficiency, the proximal femur[merckmanuals.com]
  • Etiology Medications known to affect limb development include thalidomide, retinoic acid, and misoprostol.[now.aapmr.org]
  • Congenital upper extremity differences: Understanding the etiology and treatment. A Pediatric Perspective 2001;10:1-4. F rantz CH, O’Rahilly R. Congenital skeletal limb deficiencies. J Bone Joint Surg Am.1961;43:1202-1224. S wanson AB.[casereports.in]
  • References The Journal of Trauma , “Pediatric amputation injuries: etiology, cost and outcome,” by Trautwein LC, Smith DG, Rivara FP. 1996; 41:831-838.[amputee-coalition.org]
  • Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Moebius anomalies. Am. J. Med. Genet., 23 ,903-918. Calzorali, E., Manservigi, D., Garani, G. P., Cocchi, G. Magagni, C, Milan, M. (1990).[oandplibrary.org]

Epidemiology

  • Epidemiology. 1997;8: 157-61. Rosano A, Botto LD, Olney RS, Khoury MJ, Ritvanen A, Goujard J, et al.[cdc.gov]
  • Therefore, the aim of this study is to describe the epidemiology of CLD in a population-based study in the northern Netherlands for the period 1981–2010.[bmcmusculoskeletdisord.biomedcentral.com]
  • Limb amputation and limb deficiency: epidemiology and recent trends in the US. South Med J. 2002;95:875-883. Canfield MA, Honein MA, Yuskiv N, et al.[now.aapmr.org]
  • Limb reduction defects in Emilia Romagna, Italy: epidemiological and genetic study in 173,109 consecutive births. J. Med. Genet., 27, 353-357. Donnai, D., Hughes, H. E., Winter, R. M. (1987). Postaxial acrofacial dysostosis (Miller) syndrome. J.[oandplibrary.org]
Sex distribution
Age distribution

Prevention

  • Early correction of the deformities allows for normal development and function of hand and prevents the development of permanent deformities.[michaelbellemore.com]
  • There is no known way to prevent this type of defect, but some of the problems experienced later in life by a person born with a limb reduction defect can be prevented if the defect is treated early.[cdc.gov]
  • Prevention There is no known way to prevent congenital amputations, but the prevention of birth defects in general begins with the well being of the mother before and during pregnancy.[healthofchildren.com]
  • Prevention Studies have suggested that a multivitamin including folic acid may reduce birth defects, including congenital abnormalities.[medical-dictionary.thefreedictionary.com]
  • Paternal occupation and birth defects: findings from the National Birth Defects Prevention Study. Occup Environ Med. 2012;69:534-542. Herring JA, Birch JG, eds. The Child With a Limb Deficiency. 1st ed.[now.aapmr.org]

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