327:
lengthening, corrective osteotomies, temporary hemiepiphysiodesis to correct angular joint deformities such as distal radius hemiepiphysiodesis and medial distal tibial hemiepiphysiodesis. Nevertheless, there is little evidence to support the ongoing pediatric orthopedic practice in hereditary multiple osteochondromas. Recent systematic reviews found insufficient evidence to prove that the ongoing surgical treatment of HMO improves function considerably or to prove that it impacts the quality of life of affected children. To enhance the amount of evidence in the medical literature certain recommendations have been put forward. The construction of well-designed prospective studies that can provide a more clear relationship between surgical procedures, patient characteristics and outcomes is on high demand. Otherwise, following the current study designs will continue to raise more questions than answers. Total hip arthroplasty has been used to remedy severe and painful HMO of the hip joint. Total hip arthroplasty in individuals with HMO is challenging because of distortion of anatomy and repeated surgeries performed to address complaints related to exostosis.
121:
of affected individuals have clinically manifest osteochondromas around the knee. Forearm involvement in HMO is considerable. Furthermore, short stature may occur and is generally disproportionate. Such manifestations usually result from disruption of physeal growth especially that osteochondromas typically arise at the metaphyseal ends of long bones in close proximity to the physis. Intra-articular osteochondromas of the hip can induce limitation of range of motion, joint pain and acetabular dysplasia. Likewise joint pain at other locations and neurovascular compression can occur. Furthermore, functional disability in regard to activities of daily living can be a presenting feature. Spinal deformity pain or neurological compromise should arouse suspicion of involvement of the vertebrae.
213:
never manifesting it. The 96% penetrance figure comes from only one study. Other studies have observed both incomplete and variable penetrance but without calculating the % penetrance, e.g. In both the aforementioned studies the symptomless individuals carrying the faulty gene were predominantly female, leading to speculation that incomplete penetrance is more likely to be exhibited in females. Indeed, other work has shown that boys/men tend to have worse disease than females, as well as that the number of exostoses in affected members of the same family can vary greatly. It is also possible for females to be severely affected. Severity of symptoms varies between individuals, even in the same family.
383:
407:
64:
347:
318:
variants are known to cause HMO namely EXT1 and EXT2. A combination of sequence analysis and deletion analysis of the entire coding regions of both EXT1 and EXT2 detects pathogenic variants in 70–95% of affected individuals. The hallmark of radiographic diagnosis is the presence of osteochondromas at the metaphyseal ends of long bones in which the cortex and medulla of the osteochondroma represent a continuous extension of the host bone. This is readily demonstrable in radiographs of the knees.
96:. Additional sites of occurrence include on flat bones such as the pelvic bone and scapula. The distribution and number of these exostoses show a wide diversity among affected individuals. Exostoses usually present during childhood. The vast majority of affected individuals become clinically manifest by the time they reach adolescence. The incidence of hereditary multiple exostoses is around 1 in 50,000 individuals. Hereditary multiple osteochondromas is the preferred term used by the
371:
395:
40:
212:
and prenatal diagnosis are available to determine if their unborn child has inherited the disease. HME has a 96% penetrance, which means that if the affected gene is indeed transmitted to a child, the child will have a 96% of actually manifesting the disease, and 4% chance of having the disease but
162:
hereditary disorder. This means that a patient with HME has a 50% chance of transmitting this disorder to his or her children. Most individuals with HME have a parent who also has the condition, however, approximately 10% -20% of individuals with HME have the condition as a result of a spontaneous
120:
may be the first presenting symptom. Multiple deformities can arise, namely coronal plane deformities around the knees, ankles, shoulders, elbows, and wrists. For example, genu valgum (knock knees), ankle valgus, ulnar bowing and shortening, and radial head subluxation are encountered. The majority
129:
According to self-reports, a far majority of patients experience pain, and about half experience generalized pain. Individuals who had HME-related complications were five times more likely to have pain, while those who had surgery were 3.8 times more likely to have pain. No differences were found
317:
The diagnosis of HMO is based upon establishing an accurate correlation between the above-mentioned clinical features and the characteristic radiographic features. Family history can provide an important clue to the diagnosis. This is supplemented by testing for the two genes in which pathogenic
299:
HME can lead to the shortening and bowing of bones; affected individuals often have a short stature. Depending on their location the exostoses can cause problems including: pain or numbness from nerve compression, vascular compromise, inequality of limb length, irritation of tendon and muscle,
326:
The indications for surgical intervention in individuals with HMO remain unclear and vary greatly across the medical literature. In general surgical treatment of HMO includes one or more of the following procedures: ostechondroma excision, gradual or acute bone lengthening such as the ulna
308:
as an adult. Problems may be had in later life and these could include weak bones and nerve damage. The reported rate of transformation ranges from as low as 0.57% to as high as 8.3% of people with HME. Some authors have described an association between HME and the presence of popliteal
1379:
Parada Duarte O, Arambula Neira J, Castillo Herazo V, Oviedo Lara M, LĂłpez
Polanco A, Durán Omaña A, Herrera Ortiz AF. Popliteal artery pseudoaneurysm caused by non–penetrating trauma in a patient with hereditary multiple osteochondromatosis. Radiology Case Reports.2021;17(1):185-189.
811:
Wu YQ, Heutink P, de Vries BB, Sandkuijl LA, van den
Ouweland AM, Niermeijer MF, Galjaard H, Reyniers E, Willems PJ, Halley DJ (1994). "Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11".
1483:
1468:
1065:
Faiyaz-Ul-Haque M, Ahmad W, Zaidi SH, et al. (August 2004). "Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis)".
252:
847:
Le Merrer M, Legeai-Mallet L, Jeannin PM, Horsthemke B, Schinzel A, Plauchu H, Toutain A, Achard F, Munnich A, Maroteaux P (1994). "A gene for hereditary multiple exostoses maps to chromosome 19p".
189:
Mutations in these genes typically lead to the synthesis of a truncated EXT protein which does not function normally. It is known that EXT proteins are important enzymes in the synthesis of
346:
193:; however, the exact mechanism by which altered synthesis of heparan sulfate that could lead to the abnormal bone growth associated with HME is unclear. It is thought that normal
146:
used a mouse model of HME to observe cognitive function. The findings indicated that the mutant mice endorsed three autistic characteristics: social impairment, impairments in
1112:
Porter DE, Lonie L, Fraser M, et al. (September 2004). "Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study".
92:) in relation to the ends of long bones of the lower limbs such as the femurs and tibias and of the upper limbs such as the humeri and forearm bones. They are also known as
304:
as well as a limited range of motion at the joints upon which they encroach. A person with HME has an increased risk of developing a rare form of bone cancer called
406:
1967:
1022:
Legeai-Mallet L, Munnich A, Maroteaux P, Le Merrer M (July 1997). "Incomplete penetrance and expressivity skewing in hereditary multiple exostoses".
625:
Alvarez, CM; De Vera, MA; Heslip, TR; Casey, B (September 2007). "Evaluation of the anatomic burden of patients with hereditary multiple exostoses".
197:
proliferation and differentiation may be affected, leading to abnormal bone growth. Since the HME genes are involved in the synthesis of a glycan (
2070:
1586:
2048:
382:
248:
of the long bones. Typically five or six exostoses are found in upper and lower limbs. Image depicts adult regrowth after knee replacement.
2172:
143:
1297:
2087:
1648:
108:. The risk that people with hereditary multiple osteochondromas have a 1 in 20 to 1 in 200 lifetime risk of developing sarcomas.
1671:
770:
Cook A, Raskind W, Blanton SH, Pauli RM, Gregg RG, Francomano CA, Puffenberger E, Conrad EU, Schmale G, Schellenberg G (1993).
276:
267:
668:
Darilek S, Wicklund C, Novy D, Scott A, Gambello M, Johnston D, Hecht J (May 2005). "Hereditary multiple exostosis and pain".
1209:
2021:
1995:
202:
2063:
1876:
1857:
1681:
1653:
1579:
1498:
2033:
2026:
1445:
1176:
2000:
446:"Current paediatric orthopaedic practice in hereditary multiple osteochondromas of the forearm: a systematic review"
594:
2078:
2056:
1625:
1572:
1744:
1676:
1134:
2106:
1749:
185:
which maps to the short arm of
Chromosome 19 (though its exact location has yet to be precisely determined)
2182:
2141:
2083:
892:
Zak BM, Crawford BE, Esko JD (2002). "Hereditary multiple exostoses and heparan sulfate polymerization".
370:
142:-like social problems in their children. To explore those observations more deeply, a 2012 study by the
2115:
1911:
1866:
2079:
1987:
1972:
861:
97:
63:
2151:
1512:
105:
1960:
1897:
502:"Hip joint osteochondroma: systematic review of the literature and report of three further cases"
394:
301:
147:
1325:
1196:
2177:
1927:
1848:
856:
256:
2091:
1977:
1765:
1643:
1603:
1595:
724:
713:"Autism-like socio-communicative deficits and stereotypies in mice lacking heparan sulfate"
159:
8:
2131:
2016:
1947:
1794:
1732:
1487:
1195:
Davies, A. Mark; Pettersson, Holger (2002). Pettersson, Holger; Ostensen, Harald (eds.).
47:
Photograph of the legs of a 26-year-old male showing multiple lumps leading to deformity.
728:
1934:
1492:
1419:
1394:
1243:
1226:
1147:
1091:
1047:
1035:
996:
971:
952:
788:
771:
747:
712:
693:
681:
650:
528:
501:
470:
445:
251:
130:
between males and females with respect to pain, surgery, or HME-related complications.
905:
1890:
1836:
1523:
1424:
1362:
1317:
1313:
1275:
1248:
1205:
1172:
1139:
1083:
1079:
1039:
1001:
944:
940:
909:
874:
829:
793:
752:
685:
642:
569:
533:
475:
444:
EL-Sobky, TA; Samir, S; Atiyya, AN; Mahmoud, S; Aly, AS; Soliman, R (21 March 2018).
255:
Skeleton of 92 year old woman with MHE who had knee replacements at age 70. See FIRS
52:
1395:"Bilateral total hip arthroplasty in a young man with hereditary multiple exostoses"
1171:(6th ed.). Philadelphia: Lippincott Williams & Wilkins. 2005. p. 263.
1095:
1051:
956:
697:
654:
500:
Makhdom, AM; Jiang, F; Hamdy, RC; Benaroch, TE; Lavigne, M; Saran, N (20 May 2014).
2136:
1914:
1825:
1770:
1739:
1414:
1406:
1357:
1352:
1340:
1309:
1238:
1151:
1129:
1121:
1075:
1031:
991:
983:
936:
901:
866:
821:
783:
742:
732:
677:
634:
523:
513:
465:
457:
57:
927:
Stieber JR, Dormans JP (2005). "Manifestations of hereditary multiple exostoses".
2126:
2119:
2111:
1955:
1922:
1704:
1552:
1517:
1125:
987:
638:
209:
198:
190:
208:
For individuals with HME who are considering starting a family, preimplantation
1885:
1831:
1785:
1699:
1691:
1608:
1528:
717:
Proceedings of the
National Academy of Sciences of the United States of America
353:
305:
117:
93:
1477:
1381:
561:
2166:
1709:
1339:
Kivioja A, Ervasti H, Kinnunen J, Kaitila I, Wolf M, Böhling T (March 2000).
461:
357:
100:. A small percentage of affected individuals are at risk for development of
1410:
737:
2146:
1428:
1366:
1252:
1143:
1087:
1005:
948:
913:
756:
689:
646:
573:
537:
479:
1321:
1279:
1043:
878:
870:
833:
825:
797:
518:
1816:
1564:
241:
194:
182:
176:
1460:
1635:
1547:
846:
245:
163:
mutation and are thus the first person in their family to be affected.
1021:
772:"Genetic heterogeneity in families with hereditary multiple exostoses"
232:
is also the most commonly affected gene in patients of this disorder.
1812:
1663:
1617:
89:
560:
Wuyts, W; Schmale, GA; Chansky, HA; et al. (21 November 2013).
1775:
1944:
285:
101:
1506:
1503:
216:
Symptoms are more likely to be severe if the mutation is on the
1472:
1341:"Chondrosarcoma in a family with multiple hereditary exostoses"
292:
139:
85:
1266:
McBride WZ (September 1988). "Hereditary multiple exostoses".
1338:
279:
270:
240:
It is characterized by the growth of cartilage-capped benign
84:, is a disorder characterized by the development of multiple
412:
skeleton of 92-year old woman 20 years after hip replacement
166:
HME has thus far been linked with mutations in three genes:
1726:
929:
The
Journal of the American Academy of Orthopaedic Surgeons
361:
170:
969:
810:
710:
443:
1064:
624:
499:
205:
according to the new CDG nomenclature suggested in 2009.
1204:. Geneva: World Health Organization. pp. 177, 189.
667:
1393:
Vaishya, R; Swami, S; Vijay, V; Vaish, A (5 Jan 2015).
769:
39:
1392:
1302:
The
Journal of Bone and Joint Surgery. American Volume
1298:"The natural history of hereditary multiple exostoses"
894:
Biochimica et
Biophysica Acta (BBA) - General Subjects
1345:
The
Journal of Bone and Joint Surgery. British Volume
1169:
Turek's orthopaedics principles and their application
1114:
The
Journal of Bone and Joint Surgery. British Volume
244:
around areas of active bone growth, particularly the
1450:
1295:
356:
causing deformity of the forearm (shortening of the
711:Irie F, Badie-Mahdavi H, Yamaguchi Y (March 2012).
559:
970:Jaeken J, Hennet T, Matthijs G, Freeze HH (2009).
1968:Autosomal recessive multiple epiphyseal dysplasia
1135:20.500.11820/8754788e-ceea-4613-8e65-60d34fcf9edc
1111:
335:HME is estimated to occur in 1 in 50,000 people.
2164:
1194:
138:Some parents of children with HME have observed
133:
1296:Schmale GA, Conrad EU, Raskind WH (July 1994).
1107:
1105:
891:
1291:
1289:
1017:
1015:
926:
2064:
1580:
620:
618:
616:
555:
553:
551:
549:
547:
439:
437:
435:
433:
431:
429:
427:
1332:
1218:
1102:
963:
920:
885:
495:
493:
491:
489:
1386:
1382:https://doi.org/10.1016/j.radcr.2021.10.025
1286:
1259:
1012:
840:
2071:
2057:
1594:
1587:
1573:
1446:GeneReviews: Hereditary Multiple Exostoses
1265:
804:
763:
613:
544:
424:
144:Sanford-Burnham Medical Research Institute
62:
38:
1418:
1356:
1242:
1224:
1198:Radiography of the Musculoskeletal System
1133:
995:
860:
787:
746:
736:
527:
517:
486:
469:
1163:
1161:
388:multiple osteochondromas around the knee
250:
2165:
1672:Spondyloepiphyseal dysplasia congenita
1190:
1188:
972:"CDG nomenclature: time for a change!"
376:multiple osteochondromas at the pelvis
2052:
1649:Jansen's metaphyseal chondrodysplasia
1568:
1158:
595:"Hereditary multiple osteochondromas"
568:. University of Washington, Seattle.
562:"Hereditary Multiple Osteochondromas"
1996:Rhizomelic chondrodysplasia punctata
338:
203:congenital disorder of glycosylation
116:A noticeable lump in relation to an
1682:Otospondylomegaepiphyseal dysplasia
1654:Schmid metaphyseal chondrodysplasia
1185:
74:Hereditary multiple osteochondromas
25:Hereditary multiple osteochondromas
13:
1231:American Journal of Human Genetics
1036:10.1111/j.1399-0004.1997.tb02508.x
776:American Journal of Human Genetics
682:10.1097/01.bpo.0000150813.18673.ad
235:
14:
2194:
2173:Proteoglycan metabolism disorders
1439:
670:Journal of Pediatric Orthopaedics
2152:MPS IX: Hyaluronidase deficiency
2022:Short rib – polydactyly syndrome
1314:10.2106/00004623-199407000-00005
1080:10.1111/j.1399-0004.2004.00275.x
941:10.5435/00124635-200503000-00004
405:
393:
381:
369:
345:
2142:MPS VI: Maroteaux-Lamy syndrome
2027:Majewski's polydactyly syndrome
1373:
1227:"Hereditary multiple exostoses"
1058:
330:
173:which maps to chromosome 8q24.1
111:
1358:10.1302/0301-620X.82B2.0820261
704:
661:
601:. National Library of Medicine
587:
1:
1801:Hereditary multiple exostoses
1745:Polyostotic fibrous dysplasia
1677:Multiple epiphyseal dysplasia
1553:Hereditary multiple exostoses
906:10.1016/S0304-4165(02)00402-6
417:
360:with secondary bowing of the
191:heparan sulfate proteoglycans
134:Possible connection to autism
82:hereditary multiple exostoses
33:Hereditary multiple exostoses
2132:MPS III: Sanfilippo syndrome
2034:Léri–Weill dyschondrosteosis
1126:10.1302/0301-620x.86b7.14815
988:10.1016/j.bbadis.2009.08.005
639:10.1097/BLO.0b013e3181334b51
321:
312:
7:
263:Most common locations are:
201:), HME may be considered a
153:
150:, and repetitive behavior.
88:osteocartilaginous masses (
10:
2199:
2080:Lysosomal storage diseases
2001:Conradi–Hünermann syndrome
1626:Camurati–Engelmann disease
400:CT of osteochondroma in MO
2099:
2009:
1988:Chondrodysplasia punctata
1986:
1973:Atelosteogenesis, type II
1943:
1910:
1875:
1856:
1847:
1811:
1784:
1764:
1718:
1690:
1662:
1634:
1616:
1602:
1538:
1454:
1268:American Family Physician
98:World Health Organization
51:
46:
37:
29:
24:
2137:MPS IV: Morquio syndrome
1750:McCune–Albright syndrome
849:Human Molecular Genetics
814:Human Molecular Genetics
257:Colorado Mesa University
106:malignant transformation
2127:MPS II: Hunter syndrome
2088:carbohydrate metabolism
1898:Thanatophoric dysplasia
1411:10.1136/bcr-2014-207853
738:10.1073/pnas.1117881109
506:Advances in Orthopedics
148:ultrasonic vocalization
124:
2116:Hurler–Scheie syndrome
1867:Antley–Bixler syndrome
1849:Growth factor receptor
1596:Osteochondrodysplasias
976:Biochim. Biophys. Acta
462:10.1051/sicotj/2018002
260:
16:Rare skeletal disorder
2147:MPS VII: Sly syndrome
2092:Mucopolysaccharidoses
1978:Diastrophic dysplasia
1644:Metaphyseal dysplasia
627:Clin Orthop Relat Res
254:
302:Madelung's deformity
2017:Fibrochondrogenesis
1795:osteochondromatosis
1733:Boomerang dysplasia
871:10.1093/hmg/3.5.717
826:10.1093/hmg/3.1.167
729:2012PNAS..109.5052I
519:10.1155/2014/180254
179:which maps to 11p13
2183:Skeletal disorders
1935:Hypochondrogenesis
1539:External resources
1225:CANNON JF (1954).
261:
160:autosomal dominant
2160:
2159:
2046:
2045:
2042:
2041:
1906:
1905:
1891:Hypochondroplasia
1837:Maffucci syndrome
1760:
1759:
1562:
1561:
1405:: bcr2014207853.
1211:978-92-4-154555-6
1068:Clinical Genetics
1024:Clinical Genetics
339:Additional images
309:pseudoaneurysms.
220:gene rather than
80:), also known as
71:
70:
19:Medical condition
2190:
2073:
2066:
2059:
2050:
2049:
1948:sulfation defect
1915:collagen disease
1854:
1853:
1826:enchondromatosis
1782:
1781:
1771:chondrodystrophy
1766:Chondrodysplasia
1740:Opsismodysplasia
1614:
1613:
1589:
1582:
1575:
1566:
1565:
1452:
1451:
1433:
1432:
1422:
1390:
1384:
1377:
1371:
1370:
1360:
1336:
1330:
1329:
1324:. Archived from
1293:
1284:
1283:
1263:
1257:
1256:
1246:
1222:
1216:
1215:
1203:
1192:
1183:
1182:
1165:
1156:
1155:
1137:
1109:
1100:
1099:
1062:
1056:
1055:
1019:
1010:
1009:
999:
967:
961:
960:
924:
918:
917:
889:
883:
882:
864:
862:10.1.1.1028.5356
844:
838:
837:
808:
802:
801:
791:
767:
761:
760:
750:
740:
708:
702:
701:
665:
659:
658:
622:
611:
610:
608:
606:
591:
585:
584:
582:
580:
557:
542:
541:
531:
521:
497:
484:
483:
473:
441:
409:
397:
385:
373:
349:
67:
66:
58:Medical genetics
42:
22:
21:
2198:
2197:
2193:
2192:
2191:
2189:
2188:
2187:
2163:
2162:
2161:
2156:
2120:Scheie syndrome
2112:Hurler syndrome
2095:
2077:
2047:
2038:
2005:
1982:
1956:Achondrogenesis
1939:
1923:Achondrogenesis
1902:
1871:
1843:
1807:
1773:
1769:
1756:
1719:Other/ungrouped
1714:
1705:Osteopoikilosis
1686:
1658:
1630:
1607:
1598:
1593:
1563:
1558:
1557:
1534:
1533:
1463:
1442:
1437:
1436:
1391:
1387:
1378:
1374:
1337:
1333:
1294:
1287:
1264:
1260:
1223:
1219:
1212:
1201:
1193:
1186:
1179:
1167:
1166:
1159:
1110:
1103:
1063:
1059:
1020:
1013:
968:
964:
925:
921:
890:
886:
845:
841:
809:
805:
768:
764:
709:
705:
666:
662:
623:
614:
604:
602:
593:
592:
588:
578:
576:
558:
545:
498:
487:
442:
425:
420:
413:
410:
401:
398:
389:
386:
377:
374:
365:
354:osteochondromas
350:
341:
333:
324:
315:
238:
236:Pathophysiology
210:genetic testing
199:heparan sulfate
156:
136:
127:
114:
104:as a result of
94:osteochondromas
61:
20:
17:
12:
11:
5:
2196:
2186:
2185:
2180:
2175:
2158:
2157:
2155:
2154:
2149:
2144:
2139:
2134:
2129:
2124:
2123:
2122:
2103:
2101:
2097:
2096:
2076:
2075:
2068:
2061:
2053:
2044:
2043:
2040:
2039:
2037:
2036:
2031:
2030:
2029:
2019:
2013:
2011:
2010:Other dwarfism
2007:
2006:
2004:
2003:
1998:
1992:
1990:
1984:
1983:
1981:
1980:
1975:
1970:
1965:
1964:
1963:
1952:
1950:
1941:
1940:
1938:
1937:
1932:
1931:
1930:
1919:
1917:
1908:
1907:
1904:
1903:
1901:
1900:
1895:
1894:
1893:
1886:Achondroplasia
1882:
1880:
1873:
1872:
1870:
1869:
1863:
1861:
1851:
1845:
1844:
1842:
1841:
1840:
1839:
1834:
1832:Ollier disease
1821:
1819:
1809:
1808:
1806:
1805:
1804:
1803:
1790:
1788:
1786:Osteochondroma
1779:
1762:
1761:
1758:
1757:
1755:
1754:
1753:
1752:
1742:
1737:
1736:
1735:
1722:
1720:
1716:
1715:
1713:
1712:
1707:
1702:
1700:Raine syndrome
1696:
1694:
1692:Osteosclerosis
1688:
1687:
1685:
1684:
1679:
1674:
1668:
1666:
1660:
1659:
1657:
1656:
1651:
1646:
1640:
1638:
1632:
1631:
1629:
1628:
1622:
1620:
1611:
1609:osteodystrophy
1604:Osteodysplasia
1600:
1599:
1592:
1591:
1584:
1577:
1569:
1560:
1559:
1556:
1555:
1543:
1542:
1540:
1536:
1535:
1532:
1531:
1520:
1509:
1495:
1480:
1464:
1459:
1458:
1456:
1455:Classification
1449:
1448:
1441:
1440:External links
1438:
1435:
1434:
1385:
1372:
1331:
1328:on 2014-09-20.
1285:
1258:
1217:
1210:
1184:
1177:
1157:
1101:
1057:
1011:
962:
919:
884:
839:
803:
762:
723:(13): 5052–6.
703:
660:
612:
586:
543:
485:
422:
421:
419:
416:
415:
414:
411:
404:
402:
399:
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387:
380:
378:
375:
368:
366:
351:
344:
340:
337:
332:
329:
323:
320:
314:
311:
306:chondrosarcoma
297:
296:
289:
283:
274:
237:
234:
187:
186:
180:
174:
155:
152:
135:
132:
126:
123:
113:
110:
69:
68:
55:
49:
48:
44:
43:
35:
34:
31:
27:
26:
18:
15:
9:
6:
4:
3:
2:
2195:
2184:
2181:
2179:
2178:Rare diseases
2176:
2174:
2171:
2170:
2168:
2153:
2150:
2148:
2145:
2143:
2140:
2138:
2135:
2133:
2130:
2128:
2125:
2121:
2117:
2113:
2110:
2109:
2108:
2105:
2104:
2102:
2098:
2093:
2089:
2085:
2084:Inborn errors
2081:
2074:
2069:
2067:
2062:
2060:
2055:
2054:
2051:
2035:
2032:
2028:
2025:
2024:
2023:
2020:
2018:
2015:
2014:
2012:
2008:
2002:
1999:
1997:
1994:
1993:
1991:
1989:
1985:
1979:
1976:
1974:
1971:
1969:
1966:
1962:
1959:
1958:
1957:
1954:
1953:
1951:
1949:
1946:
1942:
1936:
1933:
1929:
1926:
1925:
1924:
1921:
1920:
1918:
1916:
1913:
1909:
1899:
1896:
1892:
1889:
1888:
1887:
1884:
1883:
1881:
1878:
1874:
1868:
1865:
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1862:
1859:
1855:
1852:
1850:
1846:
1838:
1835:
1833:
1830:
1829:
1828:
1827:
1823:
1822:
1820:
1818:
1814:
1810:
1802:
1799:
1798:
1797:
1796:
1792:
1791:
1789:
1787:
1783:
1780:
1777:
1772:
1767:
1763:
1751:
1748:
1747:
1746:
1743:
1741:
1738:
1734:
1731:
1730:
1729:
1728:
1724:
1723:
1721:
1717:
1711:
1710:Osteopetrosis
1708:
1706:
1703:
1701:
1698:
1697:
1695:
1693:
1689:
1683:
1680:
1678:
1675:
1673:
1670:
1669:
1667:
1665:
1661:
1655:
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1650:
1647:
1645:
1642:
1641:
1639:
1637:
1633:
1627:
1624:
1623:
1621:
1619:
1615:
1612:
1610:
1605:
1601:
1597:
1590:
1585:
1583:
1578:
1576:
1571:
1570:
1567:
1554:
1550:
1549:
1545:
1544:
1541:
1537:
1530:
1526:
1525:
1521:
1519:
1515:
1514:
1510:
1508:
1505:
1501:
1500:
1496:
1494:
1490:
1489:
1485:
1481:
1479:
1475:
1474:
1470:
1466:
1465:
1462:
1457:
1453:
1447:
1444:
1443:
1430:
1426:
1421:
1416:
1412:
1408:
1404:
1400:
1396:
1389:
1383:
1376:
1368:
1364:
1359:
1354:
1350:
1346:
1342:
1335:
1327:
1323:
1319:
1315:
1311:
1308:(7): 986–92.
1307:
1303:
1299:
1292:
1290:
1281:
1277:
1273:
1269:
1262:
1254:
1250:
1245:
1240:
1237:(4): 419–25.
1236:
1232:
1228:
1221:
1213:
1207:
1200:
1199:
1191:
1189:
1180:
1178:9780781742986
1174:
1170:
1164:
1162:
1153:
1149:
1145:
1141:
1136:
1131:
1127:
1123:
1120:(7): 1041–6.
1119:
1115:
1108:
1106:
1097:
1093:
1089:
1085:
1081:
1077:
1074:(2): 144–51.
1073:
1069:
1061:
1053:
1049:
1045:
1041:
1037:
1033:
1029:
1025:
1018:
1016:
1007:
1003:
998:
993:
989:
985:
981:
977:
973:
966:
958:
954:
950:
946:
942:
938:
935:(2): 110–20.
934:
930:
923:
915:
911:
907:
903:
900:(3): 346–55.
899:
895:
888:
880:
876:
872:
868:
863:
858:
855:(5): 717–22.
854:
850:
843:
835:
831:
827:
823:
820:(1): 167–71.
819:
815:
807:
799:
795:
790:
785:
781:
777:
773:
766:
758:
754:
749:
744:
739:
734:
730:
726:
722:
718:
714:
707:
699:
695:
691:
687:
683:
679:
676:(3): 369–76.
675:
671:
664:
656:
652:
648:
644:
640:
636:
632:
628:
621:
619:
617:
600:
596:
590:
575:
571:
567:
563:
556:
554:
552:
550:
548:
539:
535:
530:
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520:
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511:
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496:
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492:
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481:
477:
472:
467:
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459:
455:
451:
447:
440:
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428:
423:
408:
403:
396:
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384:
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372:
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363:
359:
355:
348:
343:
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336:
328:
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307:
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294:
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258:
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184:
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149:
145:
141:
131:
122:
119:
109:
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99:
95:
91:
87:
83:
79:
75:
65:
59:
56:
54:
50:
45:
41:
36:
32:
28:
23:
1824:
1800:
1793:
1725:
1546:
1522:
1511:
1497:
1482:
1467:
1402:
1399:BMJ Case Rep
1398:
1388:
1375:
1351:(2): 261–6.
1348:
1344:
1334:
1326:the original
1305:
1301:
1274:(3): 191–2.
1271:
1267:
1261:
1234:
1230:
1220:
1197:
1168:
1117:
1113:
1071:
1067:
1060:
1027:
1023:
982:(9): 825–6.
979:
975:
965:
932:
928:
922:
897:
893:
887:
852:
848:
842:
817:
813:
806:
779:
775:
765:
720:
716:
706:
673:
669:
663:
630:
626:
603:. Retrieved
598:
589:
577:. Retrieved
565:
509:
505:
453:
449:
334:
331:Epidemiology
325:
316:
298:
262:
242:bone tumours
239:
229:
225:
221:
217:
215:
207:
188:
165:
157:
137:
128:
115:
112:Presentation
81:
77:
73:
72:
1817:enchondroma
1774:(including
1030:(1): 12–6.
782:(1): 71–9.
566:GeneReviews
195:chondrocyte
30:Other names
2167:Categories
2100:Catabolism
1636:Metaphysis
1548:Patient UK
1524:DiseasesDB
512:: 180254.
418:References
246:metaphysis
158:HME is an
1813:Chondroma
1664:Epiphysis
1618:Diaphysis
857:CiteSeerX
633:: 73–79.
352:Multiple
322:Treatment
313:Diagnosis
291:Proximal
118:extremity
90:exostoses
53:Specialty
1776:dwarfism
1429:25564594
1367:10755438
1253:14349947
1144:15446535
1096:10431219
1088:15253765
1052:44423092
1006:19765534
957:29077708
949:15850368
914:12417417
757:22411800
698:27884079
690:15832158
655:39999620
647:17589361
579:24 March
574:20301413
538:24963411
480:29565244
277:Proximal
154:Genetics
102:sarcomas
1961:type 1B
1945:SLC26A2
1518:D005097
1420:4289752
1322:8027127
1280:3046271
1244:1716573
1152:7129239
1044:9272707
997:3917312
879:8081357
834:8162019
798:8317501
789:1682231
748:3323986
725:Bibcode
605:14 July
599:Medline
529:4054980
471:5863686
450:Sicot-J
286:Humerus
1928:type 2
1912:COL2A1
1507:133701
1504:133700
1493:756.59
1427:
1417:
1365:
1320:
1278:
1251:
1241:
1208:
1175:
1150:
1142:
1094:
1086:
1050:
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994:
955:
947:
912:
877:
859:
832:
796:
786:
755:
745:
696:
688:
653:
645:
572:
536:
526:
478:
468:
456:: 10.
358:Radius
293:fibula
268:Distal
140:autism
86:benign
60:
2107:MPS I
1877:FGFR3
1858:FGFR2
1529:33342
1478:Q78.6
1202:(PDF)
1148:S2CID
1092:S2CID
1048:S2CID
953:S2CID
694:S2CID
651:S2CID
295:(30%)
288:(50%)
282:(70%)
280:tibia
273:(70%)
271:femur
1727:FLNB
1513:MeSH
1499:OMIM
1488:9-CM
1425:PMID
1403:2015
1363:PMID
1318:PMID
1276:PMID
1249:PMID
1206:ISBN
1173:ISBN
1140:PMID
1084:PMID
1040:PMID
1002:PMID
980:1792
945:PMID
910:PMID
898:1573
875:PMID
830:PMID
794:PMID
753:PMID
686:PMID
643:PMID
607:2024
581:2018
570:PMID
534:PMID
510:2014
476:PMID
362:Ulna
230:ext1
226:ext3
222:ext2
218:ext1
183:EXT3
177:EXT2
171:EXT1
125:Pain
2086:of
1484:ICD
1469:ICD
1415:PMC
1407:doi
1353:doi
1310:doi
1239:PMC
1130:hdl
1122:doi
1076:doi
1032:doi
992:PMC
984:doi
937:doi
902:doi
867:doi
822:doi
784:PMC
743:PMC
733:doi
721:109
678:doi
635:doi
631:462
524:PMC
514:doi
466:PMC
458:doi
224:or
78:HMO
2169::
2118:,
2114:,
2082::
1551::
1527::
1516::
1502::
1491::
1476::
1473:10
1423:.
1413:.
1401:.
1397:.
1361:.
1349:82
1347:.
1343:.
1316:.
1306:76
1304:.
1300:.
1288:^
1272:38
1270:.
1247:.
1233:.
1229:.
1187:^
1160:^
1146:.
1138:.
1128:.
1118:86
1116:.
1104:^
1090:.
1082:.
1072:66
1070:.
1046:.
1038:.
1028:52
1026:.
1014:^
1000:.
990:.
978:.
974:.
951:.
943:.
933:13
931:.
908:.
896:.
873:.
865:.
851:.
828:.
816:.
792:.
780:53
778:.
774:.
751:.
741:.
731:.
719:.
715:.
692:.
684:.
674:25
672:.
649:.
641:.
629:.
615:^
597:.
564:.
546:^
532:.
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228:;
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1471:-
1461:D
1431:.
1409::
1369:.
1355::
1312::
1282:.
1255:.
1235:6
1214:.
1181:.
1154:.
1132::
1124::
1098:.
1078::
1054:.
1034::
1008:.
986::
959:.
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881:.
869::
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824::
818:3
800:.
759:.
735::
727::
700:.
680::
657:.
637::
609:.
583:.
540:.
516::
482:.
460::
454:4
259:.
76:(
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