59:
438:
230:. It may include the absence of the lower spine, as well as abnormalities of the pelvis and renal organs. It was previously thought to be a severe form of sacral agensis/caudal regression syndrome, but more recent research confirms that these two conditions are not related. In general, the more severe cases of limb fusion correlate with more severe dysplasia in the pelvis. Rather than the two iliac arteries present in fetuses with complete renal agenesis, fetuses with sirenomelia display no branching of the
32:
175:
144:
404:
This condition is found in approximately one out of every 100,000 live births; studies produce rates from 1 in 68,741 to 1 in 97,807. It is 100 to 150 times more likely in identical (monozygotic) twins than in singletons or fraternal twins. Sirenomelia is not associated with any ethnic background,
285:
The ultimate cause of sirenomelia is a subject of debate. The first hypothesis of its origin was developed in 1927 and proposed that a lack of blood supply to the lower limbs during their development is responsible for the defect. This "vascular steal" hypothesis was developed in response to the
538:
documentary in "Extraordinary People: Mermaid Girl". Shiloh and her family were debating surgery because of the risks involved, even though it would improve her quality of life. Many people who have this condition undergo surgery when they are young, but Shiloh was already 8 years old in the
612:
A four-hour operation to insert silicone bags between her legs to stretch the skin was successfully completed on
February 8, 2005. A successful operation to separate her legs to just above the knee took place May 31, 2005, in a "Solidarity Hospital" in the district of
477:
in order to separate her legs before she was a year old. She was the longest-surviving sirenomelia patient to date. She had mobility issues due to her fragile leg bones and compensated by using crutches or a wheelchair. She died on
February 24, 2016, at the age of 27.
640:
Her doctor Luis Rubio said he was pleased with the progress
Milagros had made, but cautioned that she still needed 10 to 15 years of rehabilitation and more operations before she could lead a normal life, particularly reconstructive surgery to rebuild her rudimentary
286:
observed absence or severe underdevelopment of the aorta below the umbilical artery, which "steals" the blood supply from the lower limbs. Other hypotheses involve an insult to the embryo between 28 and 32 days affecting the
1319:
1304:
202:
Sirenomelia is classified by the skeletal structure of the lower limb, ranging from class I, where all bones are present and only the soft tissues are fused, to class VII where the only bone present is a fused
758:
Onyeije, Chukwuma; Sherer, David; Handwerker, Sara; Shah, Leena (2008). "Prenatal
Diagnosis of Sirenomelia with Bilateral Hydrocephalus: Report of a Previously Undocumented form of VACTERL-H Association".
637:
condition. However, at
Milagros' second birthday, her mother reported that she knew more than 50 words. A second operation to complete the separation up to the groin took place on September 7, 2006.
585:. Although most of Milagros' internal organs, including her heart and lungs, were in perfect condition, she was born with serious internal defects, including a deformed left
539:
documentary and had not undergone surgery. Shiloh was the only one of the three survivors of sirenomelia without surgery for separation of the conjoined legs. She died of
928:
Assimakopoulos, E; Athanasiadis, A; Zafrakas, M; Dragoumis, K; Bontis, J (2004). "Caudal regression syndrome and sirenomelia in only one twin in two diabetic pregnancies".
1373:
601:
shared a single tube. This birth defect occurs during the gastrulation week (week 3) of embryonic development. Gastrulation establishes the three germ layers:
609:. It seems that complications such as defects in the urogenital system as mentioned above can be possibly due to malformations in the intermediate mesoderm.
1272:
852:
and Das BB, Rajegowda BK, Bainbridge R, Giampietro PF. Caudal regression syndrome versus sirenomelia: a case report. J Peritnatol. 2002;22:169-170)
835:
744:
1021:. Creasy, Robert K.,, Resnik, Robert,, Greene, Michael F.,, Iams, Jay D.,, Lockwood, Charles J. (Seventh ed.). Philadelphia, PA. 2013-09-17.
896:
1366:
1050:
1218:
In
Memoriam: The Oprah Show has hosted a number of unforgettable guests over the years. Look back at some of those who are no longer with us.
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1157:
522:. Her parents initially anticipated she could expect only a few months of life. At age 4 months, her natural kidney failed, and she began
1622:
1359:
1429:
1068:
Kallen, B; Castilla, E E; Lancaster, P A; Mutchinick, O; Knudsen, L B; Martinez-Frias, M L; Mastroiacovo, P; Robert, E (1992).
1424:
906:
534:. She remained hopeful about her disease and joked often and lived her life happily, despite her challenges, as seen in her
1524:
1026:
871:
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298:, and a defect in the twinning process that either stops the process of caudal differentiation or generates a second
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at age 2 lasted a number of years, and in 2007 a second kidney transplant was successful. She attended
Consolidated
1662:
1258:
449:
Sirenomelia was first reported in 1542. In 1927, Otto
Kampmeier discovered the association between sirenomelia and
1119:"This is Tiffanys cousin Jessica Tannehill. Tiffany passed away this morning after a hard fight and she stayed..."
1627:
258:
1724:
1201:
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1572:
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1529:
1419:
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656:; the Solidarity Hospital had given a job to her father Ricardo CerrĂłn so that the family could remain in
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1544:
1514:
333:) gene is observed to cause hindlimb fusion in homozygous mice. Mice with knockouts or mutations in both
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Only a few individuals who had some functioning kidney tissues have survived the neonatal period.
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In animal models, several genes have been found to cause or be associated with sirenomelia. The
1833:
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527:
270:
1791:
1779:
1763:
1735:
1459:
1399:
974:"Twsg1 twisted gastrulation BMP signaling modulator 1 [ Mus musculus (house mouse) ]"
557:
on
September 22, 2009. Shiloh gained a following of admirers by documenting her condition on
1747:
1731:
1719:
1707:
1122:
622:
544:
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393:
159:
8:
1614:
1602:
1323:
1070:"The cyclops and the mermaid: An epidemiological study of two types of rare malformation"
470:
211:
353:
Though obvious at birth, sirenomelia can be diagnosed as early as 14 weeks gestation on
178:
Classification of sirenomelia by the presence or absence of bones within the lower limb.
1449:
1409:
1328:
1118:
1094:
1069:
1044:
829:
784:
738:
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to the degree of losing her ability to form proper speech patterns, leaving her nearly
553:
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262:
238:
67:
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369:
Sirenomelia is usually fatal. Many pregnancies with a sirenomelic fetus spontaneously
1838:
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47:
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Sirenomelia is mainly characterized by the fusion of both legs with rotation of the
1796:
1772:
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1647:
1509:
1454:
1351:
1089:
1081:
768:
535:
299:
52:
1244:
991:
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1504:
1339:
626:
548:
523:
507:
389:
378:
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231:
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594:
1313:
894:
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1471:
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491:
313:
and sirenomelia, although a few sources question this association. Prenatal
1577:
941:
927:
250:
242:
1103:
1019:
Creasy and Resnik's maternal-fetal medicine : principles and practice
973:
955:
780:
772:
589:
and a very small right one located very low in her body. In addition, her
370:
295:
266:
246:
106:
1085:
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and abnormal facies) by the normal twin's production of amniotic fluid.
31:
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Milagros Cerrón Arauco (April 27, 2004 – October 24, 2019) was born in
374:
1296:
1144:
614:
598:
540:
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exposure has also been suggested as an association with sirenomelia.
291:
124:
660:, while the City of Lima pledged to pay for many of the operations.
1581:
1444:
606:
602:
578:
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562:
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where one is affected, the twin with sirenomelia is protected from
287:
486:
Shiloh Jade Pepin (August 4, 1999 – October 23, 2009) was born in
1126:
1067:
646:
495:
474:
314:
163:
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in which the legs are fused together, giving the appearance of a
277:, and other limb defects (most commonly absence of the radius).
1308:
586:
515:
511:
503:
499:
335:
227:
183:
143:
1273:"Niña sirenita': fallece Milagros Cerrón Arauco a los 15 años"
174:
16:
Rare congenital deformity in which the legs are fused together
1177:"Community saddened at 'Mermaid girl' Shiloh Pepin's passing"
653:
519:
204:
194:
1259:"Milagros, the "little mermaid girl", died at the age of 15"
237:
Associated defects recorded in cases of sirenomelia include
895:
Abraham M. Rudolph; Robert K. Kamei; Kim J. Overby (2002).
757:
657:
621:. The procedure, however, was so intensive that she became
618:
582:
405:
but fetuses with sirenomelia are more likely to be male.
558:
473:(May 7, 1988 – February 24, 2016) underwent successful
210:
It has also been classified as an expanded part of the
806:(5th ed.). Philadelphia, Pa.: Elsevier/Saunders.
930:
357:. When there is low amniotic fluid around the fetus (
1381:
1286:
652:
Milagros' parents are from a poor village in Peru's
850:
https://rarediseases.org/rare-diseases/sirenomelia/
956:"srn siren [ Mus musculus (house mouse) ]"
866:. Ellard, Sian (Edition 15 ed.). : Elsevier.
1820:
1158:"10-Year-Old Girl Born With Legs Fused Together"
663:She died on October 24, 2019, at the age of 15.
992:"srn MGI Mouse Gene Detail - MGI:98421 - siren"
425:, who were sometimes depicted as mermaids, and
1367:
1116:
834:: CS1 maint: multiple names: authors list (
743:: CS1 maint: multiple names: authors list (
1265:
1174:
551:, at the age of 10; having appeared on the
180:I) all bones of thigh and lower leg present
1374:
1360:
1251:
1237:
1049:: CS1 maint: location missing publisher (
804:Human embryology and developmental biology
294:exposure affecting the neural tube during
57:
30:
1223:
1149:
1093:
42:, Lyon natural history and anatomy museum
1156:Sammons, Mary Beth (November 26, 2009).
861:
715:. Oxford: Oxford University Press, USA.
436:
173:
142:
1155:
373:. One-third to one-half of infants are
189:IV) partially fused femur, fused fibula
1821:
1279:. Diario El Comercio. 24 October 2019.
1061:
456:
1355:
1013:
1011:
706:
704:
702:
700:
698:
696:
494:with her lower extremities fused, no
1179:. SeacoastOnline.com. Archived from
898:Rudolph's Fundamentals of Pediatrics
864:Emery's elements of medical genetics
694:
692:
690:
688:
686:
684:
682:
680:
678:
676:
417:derives from the ancient Greek word
361:), the diagnosis is more difficult.
1117:Tiffany Yorks (24 February 2016).
13:
1245:""Mermaid" girl takes first steps"
1008:
801:
710:
572:
377:, with all but a few dying in the
14:
1850:
1623:Bannayan–Riley–Ruvalcaba syndrome
1231:""Mermaid" girl's legs separated"
673:
169:
761:American Journal of Perinatology
629:. It is not known if this was a
464:
345:will also have hindlimb fusion.
1194:
1168:
1133:
1110:
984:
481:
399:
259:hypoplastic left heart syndrome
221:
1430:Bonnet–Dechaume–Blanc syndrome
1247:. BBC News. 28 September 2006.
966:
948:
921:
888:
855:
842:
795:
751:
421:referring to the mythological
198:VII) fused femur, tibia absent
1:
1425:Sakati–Nyhan–Tisdale syndrome
1233:. BBC News. 7 September 2006.
666:
166:'s tail, hence the nickname.
1663:Tatton-Brown–Rahman syndrome
1633:Benign symmetric lipomatosis
901:. McGraw Hill. p. 217.
862:Peter D., Turnpenny (2017).
408:
364:
348:
7:
1753:Branchio-oto-renal syndrome
1628:Beckwith–Wiedemann syndrome
1074:Journal of Medical Genetics
802:M., Carlson, Bruce (2014).
320:
99:
10:
1855:
1725:Zimmermann–Laband syndrome
1677:Laurence–Moon–Bardet–Biedl
1638:Klippel–Trénaunay syndrome
1588:Caudal regression syndrome
1563:Klippel–Trénaunay syndrome
1525:Smith–Lemli–Opitz syndrome
1495:Cornelia de Lange syndrome
1175:Laura Dolce (2009-10-23).
711:B., Holmes, Lewis (2011).
432:
311:caudal regression syndrome
234:, which is always absent.
216:caudal regression syndrome
1697:
1676:
1613:
1573:Rubinstein–Taybi syndrome
1543:
1470:
1390:
1290:
1261:. Vaaju. 24 October 2019.
1208:. oprah.com. May 16, 2011
1143:, 10–11 pm, 18 May 2010,
309:has been associated with
280:
133:
123:
115:
105:
94:
86:
76:
66:
46:
38:
29:
24:
1643:Neurofibromatosis type I
1530:Snyder–Robinson syndrome
1480:1q21.1 deletion syndrome
1420:Saethre–Chotzen syndrome
543:on October 23, 2009, at
514:, only one quarter of a
506:, only 6 inches of
191:V) partially fused femur
1553:Adducted thumb syndrome
1515:Silver–Russell syndrome
996:www.informatics.jax.org
451:single umbilical artery
443:Les Ă©carts de la nature
261:, other heart defects,
193:VI) fused femur, fused
82:Malformations of organs
1689:Laurence–Moon syndrome
1485:Aarskog–Scott syndrome
1440:Baller–Gerold syndrome
1383:Congenital abnormality
446:
271:intestinal malrotation
199:
148:
129:Usually die in infancy
1684:Bardet–Biedl syndrome
1568:Nail–patella syndrome
1460:Pierre Robin sequence
1400:Acrocephalosyndactyly
1164:on November 26, 2009.
1160:. AOL. Archived from
1053:) CS1 maint: others (
773:10.1055/s-2007-993925
440:
177:
146:
1829:Congenital disorders
1615:Overgrowth syndromes
713:Common malformations
545:Maine Medical Center
488:Kennebunkport, Maine
394:pulmonary hypoplasia
160:congenital deformity
1603:VACTERL association
1086:10.1136/jmg.29.1.30
471:Clearwater, Florida
457:Notable individuals
355:prenatal ultrasound
239:neural tube defects
212:VACTERL association
1558:Holt–Oram syndrome
1450:Goldenhar syndrome
1410:Carpenter syndrome
554:Oprah Winfrey Show
447:
429:, meaning "limb".
386:monoamniotic twins
263:esophageal atresia
200:
187:III) fibula absent
149:
1816:
1815:
1713:Feingold syndrome
1500:Dubowitz syndrome
1490:Cockayne syndrome
1415:Pfeiffer syndrome
1349:
1348:
908:978-0-8385-8450-7
532:Elementary School
528:kidney transplant
469:Tiffany Yorks of
307:diabetes mellitus
275:persistent cloaca
255:holoprosencephaly
214:and as a form of
141:
140:
19:Medical condition
1846:
1797:Donohue syndrome
1773:Timothy syndrome
1653:Proteus syndrome
1648:Perlman syndrome
1510:Robinow syndrome
1455:Moebius syndrome
1376:
1369:
1362:
1353:
1352:
1288:
1287:
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1280:
1269:
1263:
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1213:
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755:
749:
748:
742:
734:
708:
300:primitive streak
156:mermaid syndrome
62:
61:
53:Medical genetics
34:
22:
21:
1854:
1853:
1849:
1848:
1847:
1845:
1844:
1843:
1819:
1818:
1817:
1812:
1785:Marfan syndrome
1769:Keutel syndrome
1757:CHARGE syndrome
1741:Fraser syndrome
1699:
1698:Combined/other,
1693:
1672:
1668:Weaver syndrome
1609:
1539:
1535:Turner syndrome
1520:Seckel syndrome
1505:Noonan syndrome
1466:
1386:
1380:
1350:
1345:
1344:
1299:
1285:
1284:
1271:
1270:
1266:
1257:
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1066:
1062:
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1017:
1016:
1009:
1000:
998:
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989:
985:
972:
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949:
926:
922:
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856:
847:
843:
827:
826:
814:
800:
796:
756:
752:
736:
735:
723:
709:
674:
669:
654:Andes Mountains
649:and genitalia.
605:, mesoderm and
575:
573:Milagros CerrĂłn
549:Portland, Maine
508:large intestine
484:
467:
459:
441:Sirenomelia in
435:
411:
402:
390:Potter sequence
379:neonatal period
367:
359:oligohydramnios
351:
323:
288:caudal mesoderm
283:
232:abdominal aorta
224:
197:
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56:
20:
17:
12:
11:
5:
1852:
1842:
1841:
1836:
1831:
1814:
1813:
1811:
1810:
1809:
1808:
1806:Fryns syndrome
1800:
1788:
1776:
1760:
1744:
1728:
1716:
1703:
1701:
1695:
1694:
1692:
1691:
1686:
1680:
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1674:
1673:
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1670:
1665:
1660:
1658:Sotos syndrome
1655:
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1617:
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1405:Apert syndrome
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1292:
1291:Classification
1283:
1282:
1264:
1250:
1236:
1222:
1206:The Oprah Show
1202:"SHILOH PEPIN"
1193:
1167:
1148:
1132:
1125:) – via
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920:
907:
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854:
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595:urinary tracts
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483:
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398:
392:(particularly
366:
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170:Classification
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154:, also called
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27:
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18:
15:
9:
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3:
2:
1851:
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1837:
1835:
1834:Rare diseases
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78:Complications
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1578:Gastrulation
1392:Craniofacial
1333:
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1276:
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1239:
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1217:
1210:. Retrieved
1205:
1196:
1185:. Retrieved
1181:the original
1170:
1162:the original
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999:. Retrieved
995:
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936:(2): 151–3.
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912:. Retrieved
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482:Shiloh Pepin
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400:Epidemiology
384:In cases of
383:
368:
352:
340:
334:
330:
326:
324:
304:
284:
251:spina bifida
243:rachischisis
236:
225:
222:Presentation
209:
201:
158:, is a rare
155:
151:
150:
107:Risk factors
39:
1700:known locus
1598:Sirenomelia
1277:El Comercio
1139:TV program
1080:(1): 30–5.
848:reference:
623:traumatized
415:sirenomelia
296:neurulation
267:omphalocele
247:anencephaly
152:Sirenomelia
147:Sirenomelia
87:Usual onset
40:Sirenomelia
25:Sirenomelia
1823:Categories
1593:Ectromelia
1187:2011-12-01
1141:Body Shock
1001:2018-10-19
914:2008-04-21
667:References
565:, and the
182:II) fused
72:Fused legs
1802:Multiple
1385:syndromes
1145:Channel 4
1045:cite book
1037:859526325
978:NCBI Gene
960:NCBI Gene
882:965492903
830:cite book
822:828737906
789:259998582
739:cite book
731:751694637
615:Surquillo
591:digestive
541:pneumonia
413:The word
409:Etymology
375:stillborn
365:Prognosis
349:Diagnosis
305:Maternal
292:teratogen
125:Prognosis
116:Treatment
48:Specialty
1839:Mermaids
1582:mesoderm
1445:Cyclopia
942:15266776
607:endoderm
603:ectoderm
599:genitals
579:Huancayo
567:Internet
563:Facebook
524:dialysis
518:and one
371:miscarry
321:Genetics
68:Symptoms
1340:D004480
1212:4 March
1127:Twitter
1104:1552541
1095:1015818
781:9572377
647:urethra
496:bladder
475:surgery
433:History
419:seirēn,
315:cocaine
164:mermaid
119:Surgery
1436:Other
1329:759.89
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587:kidney
516:kidney
512:vagina
504:rectum
500:uterus
445:, 1775
423:Sirens
281:Causes
249:, and
228:fibula
184:fibula
134:Deaths
100:Causes
95:Causes
55:
1545:Limbs
1314:Q87.2
1123:Tweet
785:S2CID
520:ovary
510:, no
502:, no
498:, no
427:melos
331:siren
205:femur
195:tibia
90:Birth
1335:MeSH
1324:9-CM
1214:2014
1100:PMID
1055:link
1051:link
1033:OCLC
1023:ISBN
938:PMID
903:ISBN
878:OCLC
868:ISBN
836:link
818:OCLC
808:ISBN
777:PMID
745:link
727:OCLC
717:ISBN
658:Lima
643:anus
627:mute
619:Lima
597:and
583:Peru
526:. A
342:bmp7
339:and
336:tsg1
290:, a
98:See
1320:ICD
1305:ICD
1090:PMC
1082:doi
769:doi
633:or
617:in
547:in
536:TLC
327:srn
253:),
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