284:
had taken thalidomide during the first trimester of pregnancy." Throughout Europe, Australia, and the United States, 10,000 cases were reported of infants with phocomelia; only 50% of the 10,000 survived. Thalidomide became effectively linked to death or severe disabilities among babies. Those subjected to thalidomide while in the womb experienced limb deficiencies in that the long limbs either were not developed or presented themselves as stumps. Other effects included deformed eyes, hearts, alimentary and urinary tracts, blindness and deafness.
53:
300:, a genetic disorder showing similar symptoms to phocomelia, has shed light on the possible causes. An individual afflicted with Roberts Syndrome will have chromosome copies that do not connect at the centromeres, making them unable to line up accordingly. 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.
128:
29:
144:
136:
156:
often occur. Sometimes hands or fingers will be present but limp due to having no bones or being loosely attached. 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".
155:
The symptoms of phocomelia syndrome are undeveloped limbs and absent pelvic bones; however, various abnormalities can occur to the limbs and bones. Usually the upper limbs are not fully formed and sections of the "hands and arms may be missing". Short arm bones, fused fingers, and missing thumbs will
315:
Children born with phocomelia are recommended to have a prosthetic mitten fitted to get used to the sensation of wearing an aid early on; typically a hook is added around the age of two years until the necessary tissues, bone structures, proprioception and motor coordination have developed to permit
283:
Research also proves that although phocomelia did exist through the 1940s and 1950s, cases of severe phocomelia multiplied in the 1960s when thalidomide was released in
Germany; the direct cause was traced to thalidomide. The statistic was given that "50 percent of the mothers with deformed children
311:
is a synthetic alternative for missing limbs, teeth, and various other body parts. Advances in materials, pigments and manufacturing methods during the twentieth century have rendered artificial limbs lighter in weight and more realistic-looking. Myoelectric prostheses take all their input from the
159:
According to
National Organization for Rare Disorders (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
421:
was born with phocomelia. She is arm deficient and has shortened bones and legs. Lapper graduated from
Brighton University in 1994, established herself as a visual artist, and in 2000 gave birth to a son, Parys. Lapper produces cards and calendars for The Mouth and Foot Painters' Association. She
240:
The infants that were exposed to thalidomide during development phases had a 40% chance of survival. The McCredie–McBride hypothesis explains that the limbs of the infants become malformed as a result of the thalidomide harming the neural tissue—simply because the neural tissue has such a large
73:
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.
328:(1674 - 1740) was born without hands or legs and was an artist and performer who travelled across Northern Europe. Despite his handicap Buchinger was an incredibly accomplished micro-engraver, magician, marksman and musician. He was married 4 times and had 14 children.
394:
was born with phocomelia due to his mother taking thalidomide while she was pregnant. He is known as the drummer of rock bands including Fear of Sex, The
Reasonable Strollers, Joyride, The Grateful Dub, and Living in Texas. He is also an actor and performing
1189:
160:
petite head with "sparse hair" that may appear "silvery-blonde". Hemangioma, the abnormal buildup of blood vessels, will possibly develop around the facial area at birth and the eyes may be set widely apart, a condition known as orbital
263:
was released onto the market in 1958 in West
Germany under the name Contergan. Primarily prescribed as a sedative or hypnotic, thalidomide also claimed to cure "anxiety, insomnia, gastritis, and tension". Afterwards it was used against
594:
Olney, Richard S.; Hoyme, H. Eugene; Roche, Frances; Ferguson, Kevin; Hintz, Susan; Madan, Ashima (2001). "Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): Distinctive features and prenatal detection".
292:
According to the
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.
1182:
1120:
1105:
1175:
65:
is a congenital condition that involves malformations of human arms and legs which result in a flipper-like appendage. A prominent cause of phocomelia is the mother being prescribed the use of the drug
214:
syndrome. The symptoms of thalidomide syndrome are defined by absent or shortened limbs, causing flipper hands and feet. According to
Anthony J Perri III and Sylvia Hsu they can additionally receive:
513:"Phocomelia: A Worldwide Descriptive Epidemiologic Study in a Large Series of Cases From the International Clearinghouse for Birth Defects Surveillance and Research, and Overview of the Literature"
409:. Rahma's story came out when a local journalist saw her on the street with her brother, after which the story was shared widely on social media. She died at the age of 19, on 25 December 2016.
164:. The pigment of the eyes will be a bluish white. Phocomelia can also cause: an undeveloped nose with slender nostrils, disfigured ears, irregularly petite jaws (a condition known as
340:
was born without arms and only the lower half of her left leg, and three toes. She has a rarer form of phocomelia, meaning all of her limbs are affected. She graduated from the
1876:
1167:
1063:
337:
940:
334:, (1806 – 1856) was a French painter who painted with his foot. He is known primarily for biblical and historical scenes, as well as portraits.
280:. Shortly after the drug was sold, in Germany between 5,000 and 7,000 infants were born with phocomelia. Only 40% of these children survived.
582:
The word "phocomelia" means seal limb. It describes an extremely rare condition in which babies are born with limbs that look like flippers.
1769:
964:
1262:
358:(c. 1784 – 1850), was an English painter born without arms and only vestigial legs. She learnt to paint by mouth, was taught by
755:
1710:
828:
1043:
1197:
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with a
Bachelor of Creative Arts. Barnbrook plays the trumpet with her foot and is a competitive sailor. She sails a
116:
820:
1664:
1383:
819:
Horsburgh, Sheri; Kasai, Yumi; Kolomeitz, Elena; Morel, Chantal France; Li, Chumei; Suk-King Goh, Elaine (2009).
331:
405:
with severe phocomelia. She had no limbs, except for a partially formed right hand that was attached to her
1499:
1202:
1669:
1388:
1218:
1206:
465:
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821:"The Roberts Syndrome/SC Phocomelia Spectrum - A Case Report of an Adult With Review of the Literature"
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926:
797:
341:
52:
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1280:
1257:
449:
445:
277:
168:), and a cleft lip with cleft palate. According to NORD, severe symptoms of phocomelia include:
713:"Thalidomide embryopathy: a model for the study of congenital incomitant horizontal strabismus"
668:
359:
981:
192:
Inability to clot blood efficiently due to a low amount of platelets running through the blood
1549:
1214:
363:
349:
889:
1764:
210:
When an individual is born with phocomelia due to drugs or pharmaceuticals, it is known as
8:
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108:
67:
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nervous system and muscles at the site of attachment in the form of electric signals.
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542:
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41:
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Ear and eye abnormalities, resulting in limited/complete loss of hearing or sight
444:
was born with phocomelia. He became a track and field athlete, competing in the
1705:
1636:
1600:
1572:
1494:
1398:
1272:
1155:
941:"Which 'AHS: Freak Show' "Freaks" Are Real And Which Ones Are Modified For TV?"
855:
569:
458:, evangelist, motivational speaker, author, and director of Life Without Limbs.
375:
1114:
127:
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165:
161:
148:
86:
78:
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1532:
1504:
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1285:
772:
692:
669:"A review of thalidomide's history and current dermatological applications"
616:
546:
461:
455:
398:
371:
355:
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in London, but she trained for the 2016 Paralympic Games in Rio de
Janeiro.
738:
1720:
1487:
1478:
1363:
1295:
1035:
560:
528:
517:
American
Journal of Medical Genetics Part C: Seminars in Medical Genetics
441:
260:
211:
1695:
1631:
1538:
1514:
1482:
1449:
1418:
1368:
1340:
684:
412:
308:
46:
1097:
608:
28:
1802:
1747:
1554:
1439:
1432:
1413:
1345:
1309:
798:"Fifteen-Year Hunt Uncovers Gene Behind 'Pseudothalidomide' Syndrome"
381:
1244:
1240:
1222:
468:
to reach world number one in compound women's para-archery ranking.
385:
112:
93:
856:"An Externally Powered Prothesis for Unilateral Congenital Amelia"
1812:
1470:
402:
345:
452:. Tynan went on to a career as a physician, and later, a singer.
1109:
635:
406:
276:
drug in Germany around 1960, i.e. it could be bought without a
265:
104:
754:. Teratology Society—Birth Defects Research. 8 December 2007.
178:
An accumulation of spinal fluid under the skull also known as
135:
965:
Limbless teen who lived in plastic bowl died on Christmas Day
143:
818:
638:. National Organization for Rare Disorders. 11 October 2007.
1355:
565:"Answers Begin to Emerge on How Thalidomide Caused Defects"
890:"Ame Barnbrook: 2011 Aim for the Stars Scholarship winner"
70:; however, the causes of most cases are to be determined.
1788:
1318:
1231:
348:
at world championship level. She did not qualify for the
484:
914:
649:
Hunt, Katherine Susan (2002). "Roberts SC phocomelia".
593:
172:
A fissure of the skull and a projecting brain known as
717:
Transactions of the American Ophthalmological Society
491:
Journal of Hand Surgery (British and European Volume)
1087:
982:"Alison Lapper: The Woman with the Remarkable Body"
241:impact on formation and development of the limbs.
224:Gastrointestinal and genitourinary tract disorders
1863:
205:
434:, Pioneer settler of North Dakota. Namesake of
151:boy with phocomelia affecting all 4 limbs, 1928
36:Cases of severe thalidomide-induced phocomelia.
1877:Congenital disorders of musculoskeletal system
651:Gale Encyclopedia of Genetic Disorders, Part I
1183:
770:
415:, a pianist who has two fingers on each hand.
131:Phocomelia manifested as aural abnormalities.
975:
973:
485:Hooper, G.; Tytherleigh-Strong, G. (2003).
1190:
1176:
51:
27:
970:
887:
796:Vega, Hugo; et al. (11 April 2005).
728:
536:
272:in pregnant women. Thalidomide became an
706:
704:
702:
666:
233:Distorted digestive tract, heart, kidney
142:
134:
126:
986:Multiple Sclerosis - A Personal Account
667:Perri, Anthony J.; Hsu, Sylvia (2003).
662:
660:
1864:
979:
938:
883:
881:
853:
710:
630:
628:
626:
559:
316:use of a myoelectric prosthetic limb.
287:
1171:
1005:
699:
506:
504:
195:Malformations in the kidney and heart
122:
111:involving malformation of the limbs (
1711:Greig cephalopolysyndactyly syndrome
980:Walker, Stephen (24 November 2007).
939:Kupfer, Lindsey (October 15, 2014).
829:American Journal of Medical Genetics
795:
657:
648:
597:American Journal of Medical Genetics
510:
464:(born 2007), first and only armless
384:, who made his living performing in
139:Eyesight limitation from phocomelia.
878:
623:
428:, a German Lieder and opera singer.
366:. Biffen was commissioned to paint
107:). Phocomelia is an extremely rare
13:
1201:malformations and deformations of
1044:International Paralympic Committee
501:
487:"The Classification of Phocomelia"
14:
1893:
774:The Oxford Companion to the Body
319:
182:, causing vomiting and migraines
1384:Congenital patellar dislocation
1263:Wallis–Zieff–Goldblatt syndrome
1056:
1028:
999:
958:
932:
920:
908:
847:
812:
789:
764:
422:does not wear prosthetic limbs.
1064:"Sheetal Devi | World Archery"
1008:Halfway Home: My Life 'til Now
896:. Aim for the Stars Foundation
745:
642:
587:
553:
478:
249:
117:Étienne Geoffroy Saint-Hilaire
1:
927:Photo of Eli Bowen and Family
472:
206:Thalidomide syndrome symptoms
185:An abnormally shaped uterus (
1014:: Schribner UK. p. 16.
771:Cuthbert, Alan (2001–2003).
303:
201:Abnormalities in the urethra
68:thalidomide during pregnancy
7:
1670:Oto-palato-digital syndrome
1665:Hallermann–Streiff syndrome
1389:Congenital knee dislocation
1207:musculoskeletal abnormality
752:"Pharmaceutical Teratogens"
711:Miller, Marylin T. (1991).
332:Louis Joseph CĂ©sar Ducornet
236:Hypoplastic or absent bones
10:
1898:
1701:Craniodiaphyseal dysplasia
673:Dermatology Online Journal
653:. Detroit: The Gale Group.
378:later awarded her pension.
253:
218:Palsy disorder of the face
1835:
1811:
1787:
1778:
1733:
1683:
1675:Treacher Collins syndrome
1645:
1617:
1608:
1599:
1565:
1526:reduction deficits / limb
1525:
1469:
1462:
1397:
1354:
1317:
1308:
1271:
1239:
1230:
1213:
1091:
777:. Oxford University Press
511:Amar, Emmanuelle (2011).
244:
230:Undeveloped/missing lungs
119:coined the term in 1836.
40:
35:
26:
21:
1500:Cenani–Lenz syndactylism
1253:Cleidocranial dysostosis
929:at 19thcenturyphotos.com
800:. Johns Hopkins Medicine
342:University of Wollongong
1647:Craniofacial dysostosis
888:Barnbrook, Ame (2011).
450:1988 Summer Paralympics
362:, and exhibited at the
1203:musculoskeletal system
1068:www.worldarchery.sport
854:Hunter, James (1976).
152:
140:
132:
1755:Klippel–Feil syndrome
1006:Tynan, Ronan (2002).
894:aimforthestars.com.au
636:"Phocomelia Syndrome"
350:2012 Paralympic Games
146:
138:
130:
1765:Spina bifida occulta
1281:Madelung's deformity
1258:Sprengel's deformity
758:May 7, 2010, at the
529:10.1002/ajmg.c.30320
1583:RAPADILINO syndrome
288:Genetic inheritance
256:Thalidomide scandal
109:congenital disorder
1445:Rocker bottom foot
1074:on 7 December 2023
1012:New York, New York
967:at Telegraph.co.uk
685:10.5070/D35FK5W0QV
326:Matthias Buchinger
153:
141:
133:
123:Signs and symptoms
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1780:Thoracic skeleton
1760:Spondylolisthesis
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609:10.1002/ajmg.1560
563:(15 March 2010).
268:and to alleviate
227:Ingrown genitalia
77:The term is from
60:
59:
16:Medical condition
1889:
1882:1830s neologisms
1827:Pectus carinatum
1822:Pectus excavatum
1785:
1784:
1743:Spinal curvature
1735:Vertebral column
1655:Crouzon syndrome
1619:Craniosynostosis
1615:
1614:
1606:
1605:
1471:fingers and toes
1467:
1466:
1379:Discoid meniscus
1336:Upington disease
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1070:. Archived from
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426:Thomas Quasthoff
298:Roberts syndrome
274:over-the-counter
270:morning sickness
56:
55:
31:
19:
18:
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1896:
1892:
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1847:
1843:Poland syndrome
1831:
1807:
1774:
1725:
1679:
1641:
1587:
1578:Larsen syndrome
1566:multiple joints
1561:
1521:
1454:
1393:
1374:Genu recurvatum
1350:
1327:Hip dislocation
1300:
1267:
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1706:Dolichocephaly
1703:
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1677:
1672:
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1639:
1637:Trigonocephaly
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1610:Skull and face
1603:
1597:
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1573:Arthrogryposis
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1495:Arachnodactyly
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1399:foot deformity
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1273:hand deformity
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1092:Classification
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1040:paralympic.org
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603:(4): 295–301.
586:
570:New York Times
552:
523:(4): 305–320.
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198:Shortened neck
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100:, "limb" + ια
58:
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33:
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1770:Sacralization
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1716:Plagiocephaly
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1660:Hypertelorism
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1627:Scaphocephaly
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1463:Either / both
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1331:Hip dysplasia
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1036:"Ronan Tynan"
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1021:0-7432-2291-1
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497:(3): 215–217.
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432:Enos Stutsman
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419:Alison Lapper
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364:Royal Academy
361:
360:William Craig
357:
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338:Ame Barnbrook
336:
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320:Notable cases
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180:hydrocephalus
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174:encephalocele
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162:hypertelorism
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87:seal (animal)
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79:Ancient Greek
75:
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54:
48:
45:
43:
39:
34:
30:
25:
20:
1691:Macrocephaly
1544:
1537:
1533:Acheiropodia
1505:Ectrodactyly
1425:
1406:
1291:Oligodactyly
1286:Clinodactyly
1215:Appendicular
1149:
1138:
1119:
1104:
1076:. Retrieved
1072:the original
1067:
1058:
1047:. Retrieved
1039:
1030:
1007:
1001:
989:. Retrieved
985:
960:
948:. Retrieved
944:
934:
922:
910:
898:. Retrieved
893:
868:. Retrieved
863:
859:
849:
838:. Retrieved
833:
827:
814:
802:. Retrieved
791:
779:. Retrieved
773:
766:
747:
720:
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676:
672:
650:
644:
600:
596:
589:
581:
574:. Retrieved
568:
561:Zimmer, Carl
555:
520:
516:
494:
490:
480:
462:Sheetal Devi
456:Nick Vujicic
401:was born in
399:Rahma Haruna
372:Royal Family
356:Sarah Biffen
314:
307:
295:
291:
282:
278:prescription
259:
239:
209:
166:micrognathia
158:
154:
101:
97:
90:
82:
76:
72:
62:
61:
1721:Saddle nose
1488:Webbed toes
1479:Polydactyly
1364:Genu valgum
1296:Polydactyly
991:10 December
917:at skud.org
804:10 December
781:26 February
576:26 February
466:para-archer
442:Ronan Tynan
296:A study of
261:Thalidomide
250:Thalidomide
212:thalidomide
147:9-year-old
1872:Phocomelia
1866:Categories
1696:Platybasia
1632:Oxycephaly
1545:Phocomelia
1539:Ectromelia
1515:Stub thumb
1483:Syndactyly
1450:Hammer toe
1419:Pigeon toe
1369:Genu varum
1341:Coxa valga
1199:Congenital
1151:DiseasesDB
1078:2023-12-07
1049:2023-03-22
945:Bustle.com
840:2023-04-25
723:: 623–74.
473:References
413:Hee Ah Lee
392:Mat Fraser
368:miniatures
309:Prosthesis
187:bicornuate
63:Phocomelia
47:Teratology
22:Phocomelia
1748:Scoliosis
1555:Hemimelia
1440:Pes cavus
1433:Flat feet
1414:Club foot
1346:Coxa vara
836:: 472=478
386:sideshows
382:Eli Bowen
304:Treatment
42:Specialty
1798:Cervical
1245:shoulder
1241:clavicle
1223:dysmelia
950:June 26,
900:June 26,
866:(7): 1–4
756:Archived
693:12952752
679:(3): 5.
617:11746009
547:22002800
113:dysmelia
96:+ ÎĽÎλος
94:interfix
1813:sternum
1145:D004480
739:1808819
730:1298636
538:4427055
403:Nigeria
395:artist.
370:of the
1836:other:
1550:Amelia
1427:valgus
1018:
915:SKUD18
870:20 May
737:
727:
691:
615:
545:
535:
407:axilla
374:, and
346:SKUD18
266:nausea
245:Causes
149:Indian
105:suffix
49:
1803:Bifid
1684:other
1601:Axial
1408:varus
1156:10020
1134:755.4
1130:755.2
1115:Q73.1
824:(PDF)
98:melos
83:phōkē
81:φώκη
1789:ribs
1356:knee
1232:Arms
1219:limb
1140:MeSH
1125:9-CM
1016:ISBN
993:2007
952:2017
902:2017
872:2013
860:ICIB
806:2007
783:2012
735:PMID
689:PMID
613:PMID
578:2012
543:PMID
448:and
446:1984
89:" +
1319:hip
1310:Leg
1121:ICD
1106:ICD
834:152
725:PMC
681:doi
605:doi
601:103
533:PMC
525:doi
495:28B
115:).
102:-ia
91:-o-
85:, "
1868::
1481:/
1329:/
1243:/
1221:/
1205:/
1154::
1143::
1128::
1113::
1110:10
1066:.
1042:.
1038:.
1010:.
984:.
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943:.
892:.
880:^
864:15
862:.
858:.
832:.
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733:.
721:89
719:.
715:.
701:^
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675:.
671:.
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521:15
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503:^
493:.
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1177:v
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1108:-
1098:D
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1024:.
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954:.
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874:.
843:.
808:.
785:.
741:.
695:.
683::
677:9
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607::
549:.
527::
438:.
388:.
189:)
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
