AMELIA FOCOMELIA PDF

Os pais geralmente trazem um sentimento de culpa e responsabilidade pela deformidade de seus filhos. Anteroposterior : regulado pela zona de atividade polarizada ZPA - zone of polarizing activity. Os extensores radiais curto e longo do carpo podem estar presentes. Apesar de rara, entre Forma mais comum e mais grave.

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Phocomelia is a condition that involves malformations of the arms and legs. Although many factors can cause phocomelia, the prominent roots come from the use of the drug thalidomide and from genetic inheritance. Occurrence in an individual results in various abnormalities to the face, limbs, ears, nose, vessels and many other underdevelopments.

Although operations may improve some abnormalities, many are not surgically treatable due to the lack of nerves and other related structures. Phocomelia is an extremely rare congenital disorder involving malformation of the limbs dysmelia. The symptoms of phocomelia syndrome are undeveloped limbs and absent pelvic bones; however, various abnormalities can occur to the limbs and bones. Legs and feet are also affected similarly to the arms and hands.

Individuals with phocomelia will often lack thigh bones, and the hands or feet may be abnormally small or appear as stumps due to their close "attachment to the body.

According to NORD, individuals carrying phocomelia syndrome will generally show symptoms of growth retardation previous to and after birth. The syndrome can also cause severe mental deficiencies in infants. Infants born with phocomelia will normally have a petite head with "sparse hair" that may appear "silvery-blonde. The pigment of the eyes will be a bluish white. When an individual is born with phocomelia due to drugs or pharmaceuticals, it is known as thalidomide syndrome.

The symptoms of thalidomide syndrome are defined by absent or shortened limbs; causing flipper hands and feet. Thalidomide was released onto the market in in West Germany under the label of Contergan. Primarily prescribed as a sedative or hypnotic, thalidomide also claimed to cure "anxiety, insomnia, gastritis, and tension".

Thalidomide became an over-the-counter drug in Germany around and could be bought without a prescription. Shortly after the drug was sold, in Germany, between 5, and 7, infants were born with phocomelia.

Research also proves that although phocomelia did exist through the s and s, cases of severe phocomelia multiplied in the s, when thalidomide was released in Germany; the direct cause was traced to thalidomide. Thalidomide became effectively linked to death or severe disabilities among babies. Those subjected to thalidomide while in the womb experienced limb deficiencies in a way that the long limbs either were not developed or presented themselves as stumps.

Other effects included: deformed eyes, hearts, alimentary, and urinary tracts, and blindness and deafness. According to National Organization for Rare Disorders NORD : when phocomelia is transmitted [in its familial genetic form] it is seen as an autosomal recessive trait and the mutation is linked to chromosome 8.

A study of Roberts Syndrome , a genetic disorder showing similar symptoms to phocomelia, has shed light on the possible causes. As a result, the newly made cells contain an excess or reduced number of chromosomes. In both Roberts Syndrome and phocomelia the cells cease to develop, or die, preventing proper development of the limbs, eyes, brain, palate, or other structures. Prosthesis is a synthetic alternative for missing limbs, teeth, and various other body parts.

Advances in prosthetic limbs have increased greatly during the twentieth century. The use of new materials such as modern plastics, complex procedures and better pigments have created lighter in weight and more realistic looking artificial limbs.

With the advancement of myoelectric prosthetic limbs, patients are able to move their limbs without the use of cords or other devices. The myoelectric limbs can detect electric signals from the nervous system and muscles. They were first used on adults, but now they are being fitted to children. Patients that receive a loss of limbs due to phocomelia are typically treated with prosthetics.

Infants at the age of six months are recommended to have a prosthetic mitten fitted; enabling them to get used to the prosthesis. A hook will be added when the child reaches the age of two years.

Eventually the patient may receive a myoelectric prosthetic limb. Patients are treated in this way due to the lack of understanding at a young age and the absence of necessary tissues and bones to hold the prosthetic limb.

From Wikipedia, the free encyclopedia. Phocomelia Cases of severe thalidomide-induced phocomelia. Main article: Thalidomide scandal. New York Times. Retrieved 26 February The word "phocomelia" means seal limb. It describes an extremely rare condition in which babies are born with limbs that look like flippers.

American Journal of Medical Genetics. National Organization for Rare Disorders. Detroit: The Gale Group Inc. Transactions of the American Ophthalmological Society. Dermatology Online Journal. The Oxford Companion to the Body. Oxford University Press. Johns Hopkins Medicine. Retrieved 10 December Retrieved 20 May Retrieved June 26, Multiple Sclerosis - A Personal Account. Aim for the Stars Foundation. ICD - 10 : Q Cleidocranial dysostosis Sprengel's deformity Wallis—Zieff—Goldblatt syndrome.

Madelung's deformity Clinodactyly Oligodactyly Polydactyly. Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation.

Acheiropodia Ectromelia Phocomelia Amelia Hemimelia. Scaphocephaly Oxycephaly Trigonocephaly. Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose. Cervical Bifid.

Pectus excavatum Pectus carinatum. Categories : Congenital disorders of musculoskeletal system Phocomelia. Hidden categories: Webarchive template wayback links Commons category link is on Wikidata. Namespaces Article Talk. Views Read Edit View history. In other projects Wikimedia Commons.

By using this site, you agree to the Terms of Use and Privacy Policy. Medical genetics. Wikimedia Commons has media related to Phocomelia. Skull and face Craniosynostosis Scaphocephaly Oxycephaly Trigonocephaly.

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Amelia (birth defect)

Amelia is the birth defect of lacking one or more limbs. It can also result in a shrunken or deformed limb. The term may be modified to indicate the number of legs or arms missing at birth, such as tetra-amelia for the absence of all four limbs. A related term is meromelia , which is the partial absence of a limb or limbs. The diagnosis of tetra-amelia syndrome is established clinically and can be made on routine prenatal ultrasonography.

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Phocomelia

NCBI Bookshelf. This publication is provided for historical reference only and the information may be out of date. Affected infants are often stillborn or die shortly after birth. The diagnosis of tetra-amelia syndrome can be established clinically and is usually made on routine prenatal ultrasonography. WNT3 is the only gene in which pathogenic variants are known to cause tetra-amelia syndrome. The variant detection frequency is unknown as only a limited number of families have been studied.

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