160:
non-deforming osteogenesis imperfecta with blue sclerae or common variable osteogenesis imperfecta with normal sclerae, nearly 60% of cases are de novo. COL1A1/2-related osteogenesis imperfecta is identified by repeated fractures with trivial trauma, defective dentinogenesis imperfecta (DI), and hearing loss. The clinical features of COL1A1/2-related osteogenesis imperfecta can be highly variable ranging from severe and lethal perinatal fractures to individuals with minimal tendency to repeated fractures and skeletal deformities and with a normal stature and life span. In between the clinical spectrum may include individuals with various degrees of disabling skeletal deformities and short stature. The radiographic findings of osteogenesis imperfecta include; long bone deformations such as bowing of the tibias and femurs, pencil-like deformity and tapering of bones, cortical thinning and rarefaction, pathologic fractures at various degrees of healing, bone shortening and vertebral wedging. Accordingly, COL1A1/2-related osteogenesis imperfecta has been classified into four sub-types (I, II, III, and IV) built upon the diversity of the radioclinical features.
141:
mutations in the cartilage oligomeric matrix protein COMP gene. It's distinguished by a moderate to severe form of disproportionate short-limb short stature. The limb shortening is fundamentally confined to the proximal limb segments i.e., Femurs and humeri. A known presenting feature is a waddling gait, noticed at the onset of walking. A prompt diagnosis of a skeletal dysplasia in general and
Pseudoachondroplasia in specific is still based upon a comprehensive clinical and radiographic correlation. A detailed radiographic examination of the axial and appendicular skeleton is invaluable for the differential diagnosis of Pseudoachondroplasia. Coxa vara (reduced neck shaft angle), broad femoral necks, short femurs and humeri, and bullet-shaped vertebrae are noticeable radiographic features. Additionally, the presence of metaphyseal broadening, cupping and dense line of ossification about the knee can simulate rachitic changes. These radiographic features are collectively known as rachitic-like changes. The presence of epiphyseal changes serves as an important differentiating feature from achondroplasia.
171:(MPS) constitute a commonly seen group of osteochondrodysplasias. Mucopolysaccharidosis can cause a wide spectrum of clinical and radiologic manifestations ranging from mild skeletal and systemic involvement to severe life-threatening manifestations. It is caused by a contiguous gene duplication or deletion syndrome in which multiple genes are involved. All forms of MPS are inherited in an autosomal recessive pattern, except for of MPS II; Hunter syndrome which is X-linked. They are caused by an abnormal function of the lysosomal enzymes, which blocks degradation of
80:. About 1 in 5,000 babies are born with some type of skeletal dysplasia. Nonetheless, if taken collectively, genetic skeletal dysplasias or osteochondrodysplasias comprise a recognizable group of genetically determined disorders with generalized skeletal affection. These disorders lead to disproportionate short stature and bone abnormalities, particularly in the arms, legs, and spine. Skeletal dysplasia can result in marked functional limitation and even mortality.
469:
two skeletal dysplasia patients in their lifetime. Guidelines are available to support best practices for managing several areas of skeletal dysplasia, such as the craniofacial aspects of skeletal dysplasia, spinal disorders, diagnosis and management of type II collagen disorders, pregnancy of people with skeletal dysplasia, peri-operative management, and foramen magnum stenosis in achondroplasia. Written and video resources for
124:, with an average adult height of 131 cm (4 feet, 3 inches) for males and 123 cm (4 feet, 0 inches) for females. In achondroplasia the dwarfism is readily apparent at birth. Likewise, craniofacial abnormalities in the form of macrocephaly and mid-face hypoplasia are present at birth. The previous clinical findings differentiate between achondroplasia and
482:
Guidelines have been developed for the management different aspects of skeletal dysplasia, including best practices for managing craniofacial and spinal manifestations, diagnosis and management of type II collagen disorders, pregnancy of people with skeletal dysplasia, peri-operative management, and foramen magnum stenosis in achondroplasia.
468:
Even with treatments such as enzyme replacement therapy and stem cell transplantation, people with skeletal dysplasia often require orthopedic surgery and other disease management interventions. There is a lack of information available to support these patients as most physicians may only see one or
447:
at birth, but may progress to more severe disease later in life. Early diagnosis can be challenging. Furthermore, type II collagenopathies have significant phenotypic overlap with conditions such as MPS. Guidelines are available to ensure healthcare professional are aware of the conditions and the
481:
Timely management of skeletal dysplasia is important to combat functional deterioration. Due to rarity of the individual disorders that cause skeletal dysplasia, management can be challenging if a patient does not have access to a facility that has physicians who specialize in skeletal dysplasia.
83:
Osteochondrodysplasias or skeletal dysplasia subtypes can overlap in clinical aspects, therefore plain radiography is absolutely necessary to establish an accurate diagnosis. Magnetic resonance imaging can provide further diagnostic insights and guide treatment strategies especially in cases of
419:
The diagnosis is mainly based upon delineating the specific clinical and radiographic pattern of skeletal involvement. However, the different types of skeletal dysplasia can overlap considerably in their clinical presentation. Molecular or genetic analysis may be required to resolve diagnostic
140:
is an osteochondrodysplasia made distinctive by disproportionate short stature, hip and knee deformities, brachydactyly (short fingers) and ligamentous laxity. It affects at least 1 in 20,000 individuals. Pseudoachondroplasia is inherited in an autosomal dominant manner and is caused solely by
175:
and leads to accumulation of harmful byproducts, namely, heparan sulfate, dermatan sulfate, and keratan sulfate. The resulting cellular malfunction can lead to a diverse array of skeletal and visceral manifestations. MPS have been subcategorized according to the type of enzyme inadequacy and
1706:
White, Klane K.; Savarirayan, Ravi; Goldberg, Michael J.; MacKenzie, William; Bompadre, Viviana; Bober, Michael B.; Cho, Tae-Joon; Hoover-Fong, Julie; Parnell, Shawn E.; Raggio, Cathleen; Spencer, Samantha A.; Campbell, Jeffery W.; Rapoport, David M.; Kifle, Yemiserach; Blackledge, Marcella
1452:
Hashemi Taheri, Amir Pejman; Radmard, Amir Reza; Kooraki, Soheil; Behfar, Maryam; Pak, Neda; Hamidieh, Amir Ali; Ghavamzadeh, Ardeshir (September 2015). "Radiologic resolution of malignant infantile osteopetrosis skeletal changes following hematopoietic stem cell transplantation: Radiologic
456:
Emerging therapies for genetic skeletal dysplasias include enzyme replacement therapy, small molecule therapy, hematopoietic stem cell transplantation and gene therapy. These therapies aim at preventing disease progression and thus improving quality of life. Enzyme replacement therapies are
1397:
Savarirayan, Ravi; Tofts, Louise; Irving, Melita; Wilcox, William R.; Bacino, Carlos A.; Hoover-Fong, Julie; Font, Rosendo Ullot; Harmatz, Paul; Rutsch, Frank; Bober, Michael B.; Polgreen, Lynda E.; Ginebreda, Ignacio; Mohnike, Klaus; Charrow, Joel; Hoernschemeyer, Daniel (December 2021).
159:
is inherited in an autosomal dominant manner. The proportion of cases caused by a De novo COL1A1 or COL1A2 mutations are the cause of osteogenesis imperfecta in the vast majority of perinatally lethal osteogenesis imperfecta, and progressively deforming osteogenesis imperfecta. In classic
438:
gene. Type II collagen disorders can result in mild disease or severe which can cause death within weeks of birth. Infants with the severe form of the disease would be born with clear indications of the disease, such as disproportionate short stature, skeletal dysplasia, distinctive eye
1637:
White, Klane K.; Bompadre, Viviana; Goldberg, Michael J.; Bober, Michael B.; Cho, Tae-Joon; Hoover-Fong, Julie E.; Irving, Melita; Mackenzie, William G.; Kamps, Shawn E.; Raggio, Cathleen; Redding, Gregory J.; Spencer, Samantha S.; Savarirayan, Ravi; Theroux, Mary C. (August 2017).
278:
with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bones can be involved.
620:
Mortier, Geert R.; Cohn, Daniel H.; Cormier-Daire, Valerie; Hall, Christine; Krakow, Deborah; Mundlos, Stefan; Nishimura, Gen; Robertson, Stephen; Sangiorgi, Luca; Savarirayan, Ravi; Sillence, David; Superti-Furga, Andrea; Unger, Sheila; Warman, Matthew L. (2019-10-21).
1584:
Savarirayan, Ravi; Rossiter, Judith P.; Hoover-Fong, Julie E.; Irving, Melita; Bompadre, Viviana; Goldberg, Michael J.; Bober, Michael B.; Cho, Tae-Joon; Kamps, Shawn E.; Mackenzie, William G.; Raggio, Cathleen; Spencer, Samantha S.; White, Klane K. (December 2018).
84:
spinal involvement. As some disorders that cause skeletal dysplasia have treatments available, early diagnosis is particularly important, but may be challenging due to overlapping features and symptoms that may also be common in unaffected children.
1709:"Response: "Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy" and "is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?""
1295:
Savarirayan, Ravi; Bompadre, Viviana; Bober, Michael B.; Cho, Tae-Joon; Goldberg, Michael J.; Hoover-Fong, Julie; Irving, Melita; Kamps, Shawn E.; Mackenzie, William G.; Raggio, Cathleen; Spencer, Samantha S.; White, Klane K. (September 2019).
1813:
749:
White, Klane K.; Bober, Michael B.; Cho, Tae-Joon; Goldberg, Michael J.; Hoover-Fong, Julie; Irving, Melita; Kamps, Shawn E.; MacKenzie, William G.; Raggio, Cathleen; Spencer, Samantha A.; Bompadre, Viviana; Savarirayan, Ravi (2020).
128:
in which dwarfism is not recognizable at birth and craniofacial abnormalities are not considered a disease feature. Plain radiography plays an additional and important role in the differential diagnosis of achondroplasia.
308:
material. Diagnosis is usually made at birth or in early childhood. The features associated with this condition include mild to moderate learning difficulties, short stature, unique facial features, small head and
1010:
431:
may closely resemble the clinical presentation of some osteochondrodysplasias or genetic skeletal dysplsias. In that, both conditions can present with swollen, stiff and deformed joints.
963:
461:
and
Gaucher disease. Results have shown effectivity of enzyme replacement therapy. Hematopoietic stem cell transplantation can be lifesaving for some disorders, such as with
120:. It is also the most common type of non-lethal osteochondrodysplasia or skeletal dysplasia. The prevalence is approximately 1 in 25,000 births. Achondroplastic dwarfs have
2309:
345:
Patients are normal at birth and the syndrome manifests during childhood and puberty. The enchondromas affect the extremities and their distribution is asymmetrical.
1928:
553:
912:
1400:"Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study"
1243:"Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations"
1990:
2013:
1191:
Kaya Akca, U; Simsek Kiper, PO; Urel Demir, G; Sag, E; Atalay, E; Utine, GE; Alikasifoglu, M; Boduroglu, K; Bilginer, Y; Ozen, S (April 2021).
408:
1501:"Reversal of skeletal radiographic pathology in a case of malignant infantile osteopetrosis following hematopoietic stem cell transplantation"
1172:
2363:
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1015:
2375:
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2199:
2023:
1995:
1921:
1832:
2368:
2342:
462:
1967:
1914:
701:"A systematized approach to radiographic assessment of commonly seen genetic bone diseases in children: A pictorial review"
2142:
2086:
2018:
428:
2091:
557:
398:
288:
2400:
2208:
801:
Wynn J, King TM, Gambello MJ, Waller DK, Hecht JT (2007). "Mortality in achondroplasia study: A 42-year follow up".
2253:
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1139:
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2314:
1843:
185:
393:
2302:
2239:
156:
150:
2405:
2269:
2190:
507:
403:
1587:"Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia"
1298:"Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders"
2319:
1985:
458:
168:
1193:"Genetic disorders with symptoms mimicking rheumatologic diseases: A single-center retrospective study"
699:
EL-Sobky, TA; Shawky, RM; Sakr, HM; Elsayed, SM; Elsayed, NS; Ragheb, SG; Gamal, R (15 November 2017).
137:
125:
110:
1350:"Enzyme replacement therapy with laronidase (AldurazymeÂź) for treating mucopolysaccharidosis type I"
2358:
2136:
2074:
987:
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1754:
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1478:
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826:
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668:
172:
1115:
939:
1499:
El-Sobky, Tamer; El-Haddad, Alaa; Elsobky, Ezzat; Elsayed, Solaf; Sakr, Hossam (1 March 2017).
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49:
1532:
Shemesh, E; Deroma, L; Bembi, B; Deegan, P; Hollak, C; Weinreb, NJ; Cox, TM (27 March 2015).
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113:
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98:
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243:
198:
121:
1894:
1758:
1689:
1482:
830:
726:
1549:
1365:
752:"Best practice guidelines for management of spinal disorders in skeletal dysplasia"
366:
as an area of whiteness and is where the bone density has significantly increased.
339:
77:
1640:"Best practices in peri-operative management of patients with skeletal dysplasias"
1848:
1772:
1241:
Elsebaie, H; Mansour, MA; Elsayed, SM; Mahmoud, S; El-Sobky, TA (December 2021).
2158:
1517:
1500:
331:
227:
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1977:
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194:
17:
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656:
470:
2154:
2005:
1959:
1865:
1826:
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1053:
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700:
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abnormalities including bony growths projecting from the surfaces of bones.
107:
73:
1750:
1681:
1620:
1567:
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1435:
1383:
1331:
1276:
1219:
1077:
891:
857:
822:
787:
664:
606:
1708:
1639:
623:"Nosology and classification of genetic skeletal disorders: 2019 revision"
622:
2117:
1906:
1724:
1655:
1167:. Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins.
814:
638:
237:
117:
1805:
1733:
1664:
1534:"Enzyme replacement and substrate reduction therapy for Gaucher disease"
647:
2286:
1466:
201:
deformities which people with it often have. Common features include:
1817:
1348:
Jameson, Elisabeth; Jones, Simon; Remmington, Tracey (18 June 2019).
443:, and others. However, infants with mild disease may only experience
264:
1159:
Marks, Dawn B.; Swanson, Todd; Sandra I Kim; Marc
Glucksman (2007).
1870:
379:
363:
271:
212:
A soft spot or larger soft area in the top of the head where the
2068:
1837:
330:
is a sporadic disease characterized by the presence of multiple
69:
1910:
1775:. Skeletal Displasia Management Consortium. 27 February 2023
362:, an elevation in bone density, is normally detected on an
434:
Type II collagen disorders are caused by variants in the
334:
associated with multiple simple or cavernous soft tissue
934:
932:
1505:
The
Egyptian Journal of Radiology and Nuclear Medicine
1795:
913:"Osteogenesis Imperfecta - Children's Health Issues"
878:
Steiner, RD; Adsit, J; Basel, D (14 February 2013).
448:
symptoms of disease to support efficient diagnosis.
27:
Group of disorders of bone and cartilage development
2351:
2328:
2285:
2252:
2217:
2198:
2189:
2153:
2126:
2106:
2060:
2032:
2004:
1976:
1958:
1944:
1880:
1799:
571:Geister, Krista A.; Camper, Sally A. (2015-01-01).
48:
40:
35:
1160:
1052:Devidayal, null; Marwaha, Ram Kumar (2006-02-01).
964:"Mucopolysaccharidoses - Children's Health Issues"
2310:Autosomal recessive multiple epiphyseal dysplasia
274:-like growths that consist of replacement of the
1096:NORD (National Organization for Rare Disorders)
1033:NORD (National Organization for Rare Disorders)
992:NORD (National Organization for Rare Disorders)
944:NORD (National Organization for Rare Disorders)
471:patients with skeletal dysplasia and caregivers
193:is a general skeletal condition named for the
1922:
1591:American Journal of Obstetrics and Gynecology
694:
692:
690:
688:
686:
684:
682:
8:
577:Annual Review of Genomics and Human Genetics
1713:American Journal of Medical Genetics Part A
1644:American Journal of Medical Genetics Part A
1538:The Cochrane Database of Systematic Reviews
1186:
1184:
627:American Journal of Medical Genetics Part A
2195:
2123:
1955:
1929:
1915:
1907:
1796:
1447:
1445:
1343:
1341:
32:
1732:
1663:
1602:
1557:
1516:
1494:
1492:
1425:
1415:
1373:
1313:
1266:
1116:"Maffucci syndrome: MedlinePlus Genetics"
777:
767:
716:
646:
596:
573:"Advances in Skeletal Dysplasia Genetics"
884:COL1A1/2-Related Osteogenesis Imperfecta
554:"Medcyclopaedia - Osteochondrodysplasia"
267:in one or more bones of the human body.
1354:Cochrane Database of Systematic Reviews
844:Briggs, MD; Wright, MJ (16 July 2015).
545:
496:
2014:Spondyloepiphyseal dysplasia congenita
409:Familial osteodysplasia, Anderson type
68:, is a disorder of the development of
1991:Jansen's metaphyseal chondrodysplasia
1701:
1699:
1632:
1630:
1579:
1577:
1290:
1288:
1286:
886:. University of Washington, Seattle.
852:. University of Washington, Seattle.
7:
2338:Rhizomelic chondrodysplasia punctata
1200:European Journal of Medical Genetics
744:
742:
740:
738:
736:
263:causes bone thinning and growths or
219:Bones and joints are underdeveloped.
2024:Otospondylomegaepiphyseal dysplasia
1996:Schmid metaphyseal chondrodysplasia
846:"COMP-Related Pseudoachondroplasia"
589:10.1146/annurev-genom-090314-045904
1163:Biochemistry and molecular biology
880:"COL1A1/2 Osteogenesis Imperfecta"
25:
1140:"Medcyclopaedia - Osteosclerosis"
756:Orphanet Journal of Rare Diseases
463:malignant infantile osteopetrosis
459:some of the mucopolysaccharidoses
116:that is the most common cause of
2364:Short rib â polydactyly syndrome
1453:Resolution of MIOP After HSCT".
2369:Majewski's polydactyly syndrome
376:Deformity type Erlenmeyer flask
1550:10.1002/14651858.CD010324.pub2
1366:10.1002/14651858.CD009354.pub5
968:Merck Manuals Consumer Version
917:Merck Manuals Consumer Version
1:
2143:Hereditary multiple exostoses
2087:Polyostotic fibrous dysplasia
2019:Multiple epiphyseal dysplasia
429:Juvenile idiopathic arthritis
205:Partly or completely missing
76:. Osteochondrodysplasias are
2376:LĂ©riâWeill dyschondrosteosis
1455:Pediatric Blood & Cancer
1016:Dorland's Medical Dictionary
233:Permanent teeth not erupting
1518:10.1016/j.ejrnm.2016.12.013
1011:"fibrous dysplasia of bone"
2422:
2343:ConradiâHĂŒnermann syndrome
1968:CamuratiâEngelmann disease
1604:10.1016/j.ajog.2018.07.017
1417:10.1038/s41436-021-01287-7
1259:10.1016/j.bonr.2021.101106
1212:10.1016/j.ejmg.2021.104185
769:10.1186/s13023-020-01415-7
528: 'badly' and
352:
320:
286:
253:
183:
176:glycoprotein accumulated.
148:
96:
2330:Chondrodysplasia punctata
2315:Atelosteogenesis, type II
1315:10.1038/s41436-019-0446-9
1054:"Langer-Giedion Syndrome"
988:"Cleidocranial Dysplasia"
236:Bossing (bulging) of the
2092:McCuneâAlbright syndrome
705:J Musculoskelet Surg Res
399:MelnickâNeedles syndrome
191:Cleidocranial dysostosis
186:Cleidocranial dysostosis
180:Cleidocranial dysostosis
2240:Thanatophoric dysplasia
940:"Mucopolysaccharidoses"
718:10.4103/jmsr.jmsr_28_17
524: 'cartiledge'
294:LangerâGiedion syndrome
289:LangerâGiedion syndrome
283:LangerâGiedion syndrome
157:osteogenesis imperfecta
151:Osteogenesis imperfecta
145:Osteogenesis imperfecta
2209:AntleyâBixler syndrome
2191:Growth factor receptor
1938:Osteochondrodysplasias
424:Differential diagnosis
404:Ovine chondrodysplasia
2320:Diastrophic dysplasia
1986:Metaphyseal dysplasia
1895:Osteochondrodysplasia
386:. It may result from
169:Mucopolysaccharidoses
164:Mucopolysaccharidosis
62:osteochondrodysplasia
36:Osteochondrodysplasia
1725:10.1002/ajmg.a.37546
1656:10.1002/ajmg.a.38357
1404:Genetics in Medicine
1302:Genetics in Medicine
850:Pseudoachondroplasia
815:10.1002/ajmg.a.31919
803:Am. J. Med. Genet. A
639:10.1002/ajmg.a.61366
473:are also available.
138:Pseudoachondroplasia
133:Pseudoachondroplasia
126:pseudoachondroplasia
2359:Fibrochondrogenesis
2137:osteochondromatosis
2075:Boomerang dysplasia
1092:"Maffucci Syndrome"
1080:– via PubMed.
1029:"Fibrous Dysplasia"
394:KashinâBeck disease
228:supernumerary teeth
173:mucopolysaccharides
2401:Skeletal disorders
2277:Hypochondrogenesis
1881:External resources
270:These lesions are
66:skeletal dysplasia
44:Skeletal dysplasia
2388:
2387:
2384:
2383:
2248:
2247:
2233:Hypochondroplasia
2179:Maffucci syndrome
2102:
2101:
1904:
1903:
1650:(10): 2584â2595.
1467:10.1002/pbc.25524
1410:(12): 2443â2447.
1174:978-0-7817-8624-9
1058:Indian Pediatrics
633:(12): 2393â2419.
530:-ÏλαÏÎŻáŸ± (-plasĂÄ)
517: 'bone'
342:may be apparent.
328:Maffucci syndrome
323:Maffucci syndrome
317:Maffucci syndrome
261:Fibrous dysplasia
256:Fibrous dysplasia
250:Fibrous dysplasia
155:COL1A1/2-related
58:
57:
30:Medical condition
16:(Redirected from
2413:
2290:sulfation defect
2257:collagen disease
2196:
2168:enchondromatosis
2124:
2113:chondrodystrophy
2108:Chondrodysplasia
2082:Opsismodysplasia
1956:
1931:
1924:
1917:
1908:
1797:
1785:
1784:
1782:
1780:
1769:
1763:
1762:
1736:
1719:(4): 1101â1103.
1703:
1694:
1693:
1667:
1634:
1625:
1624:
1606:
1581:
1572:
1571:
1561:
1529:
1523:
1522:
1520:
1496:
1487:
1486:
1461:(9): 1645â1649.
1449:
1440:
1439:
1429:
1419:
1394:
1388:
1387:
1377:
1345:
1336:
1335:
1317:
1308:(9): 2070â2080.
1292:
1281:
1280:
1270:
1238:
1232:
1231:
1197:
1188:
1179:
1178:
1166:
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746:
731:
730:
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696:
677:
676:
650:
617:
611:
610:
600:
568:
562:
561:
556:. Archived from
550:
533:
501:
384:Erlenmeyer flask
298:genetic disorder
216:failed to close.
114:genetic disorder
33:
21:
2421:
2420:
2416:
2415:
2414:
2412:
2411:
2410:
2391:
2390:
2389:
2380:
2347:
2324:
2298:Achondrogenesis
2281:
2265:Achondrogenesis
2244:
2213:
2185:
2149:
2115:
2111:
2098:
2061:Other/ungrouped
2056:
2047:Osteopoikilosis
2028:
2000:
1972:
1949:
1940:
1935:
1905:
1900:
1899:
1876:
1875:
1808:
1794:
1789:
1788:
1778:
1776:
1771:
1770:
1766:
1705:
1704:
1697:
1636:
1635:
1628:
1583:
1582:
1575:
1544:(3): CD010324.
1531:
1530:
1526:
1498:
1497:
1490:
1451:
1450:
1443:
1396:
1395:
1391:
1360:(4): CD009354.
1347:
1346:
1339:
1294:
1293:
1284:
1240:
1239:
1235:
1195:
1190:
1189:
1182:
1175:
1158:
1157:
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1144:
1142:
1138:
1137:
1133:
1124:
1122:
1120:medlineplus.gov
1114:
1113:
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1100:
1098:
1090:
1089:
1085:
1051:
1050:
1046:
1037:
1035:
1027:
1026:
1022:
1009:
1005:
996:
994:
986:
985:
981:
972:
970:
962:
961:
957:
948:
946:
938:
937:
930:
921:
919:
911:
910:
906:
896:
894:
877:
876:
872:
862:
860:
843:
842:
838:
809:(21): 2502â11.
800:
799:
795:
748:
747:
734:
698:
697:
680:
619:
618:
614:
570:
569:
565:
552:
551:
547:
542:
537:
536:
532: 'formed'.
502:
498:
493:
488:
479:
454:
439:abnormalities,
426:
420:difficulties.
417:
388:Gaucher disease
378:gives a distal
372:
357:
351:
325:
319:
296:is a very rare
291:
285:
258:
252:
224:permanent teeth
188:
182:
166:
153:
147:
135:
101:
95:
90:
31:
28:
23:
22:
15:
12:
11:
5:
2419:
2417:
2409:
2408:
2403:
2393:
2392:
2386:
2385:
2382:
2381:
2379:
2378:
2373:
2372:
2371:
2361:
2355:
2353:
2352:Other dwarfism
2349:
2348:
2346:
2345:
2340:
2334:
2332:
2326:
2325:
2323:
2322:
2317:
2312:
2307:
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2294:
2292:
2283:
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2280:
2279:
2274:
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2272:
2261:
2259:
2250:
2249:
2246:
2245:
2243:
2242:
2237:
2236:
2235:
2228:Achondroplasia
2224:
2222:
2215:
2214:
2212:
2211:
2205:
2203:
2193:
2187:
2186:
2184:
2183:
2182:
2181:
2176:
2174:Ollier disease
2163:
2161:
2151:
2150:
2148:
2147:
2146:
2145:
2132:
2130:
2128:Osteochondroma
2121:
2104:
2103:
2100:
2099:
2097:
2096:
2095:
2094:
2084:
2079:
2078:
2077:
2064:
2062:
2058:
2057:
2055:
2054:
2049:
2044:
2042:Raine syndrome
2038:
2036:
2034:Osteosclerosis
2030:
2029:
2027:
2026:
2021:
2016:
2010:
2008:
2002:
2001:
1999:
1998:
1993:
1988:
1982:
1980:
1974:
1973:
1971:
1970:
1964:
1962:
1953:
1951:osteodystrophy
1946:Osteodysplasia
1942:
1941:
1936:
1934:
1933:
1926:
1919:
1911:
1902:
1901:
1898:
1897:
1885:
1884:
1882:
1878:
1877:
1874:
1873:
1862:
1851:
1840:
1829:
1809:
1804:
1803:
1801:
1800:Classification
1793:
1792:External links
1790:
1787:
1786:
1773:"Publications"
1764:
1707:(2016-01-11).
1695:
1626:
1597:(6): 545â562.
1573:
1524:
1511:(1): 237â243.
1488:
1441:
1389:
1337:
1282:
1233:
1180:
1173:
1151:
1131:
1107:
1083:
1064:(2): 174â175.
1044:
1020:
1003:
979:
955:
928:
904:
870:
836:
793:
732:
678:
612:
583:(1): 199â227.
563:
560:on 2011-05-26.
544:
543:
541:
538:
535:
534:
495:
494:
492:
489:
487:
484:
478:
475:
453:
450:
425:
422:
416:
413:
412:
411:
406:
401:
396:
391:
382:similar to an
371:
368:
360:Osteosclerosis
355:Osteosclerosis
353:Main article:
350:
349:Osteosclerosis
347:
321:Main article:
318:
315:
287:Main article:
284:
281:
276:medullary bone
254:Main article:
251:
248:
247:
246:
241:
234:
231:
220:
217:
210:
197:(cleido-) and
184:Main article:
181:
178:
165:
162:
149:Main article:
146:
143:
134:
131:
104:Achondroplasia
99:Achondroplasia
97:Main article:
94:
93:Achondroplasia
91:
89:
86:
56:
55:
52:
46:
45:
42:
38:
37:
29:
26:
24:
18:Bone deformity
14:
13:
10:
9:
6:
4:
3:
2:
2418:
2407:
2406:Rare diseases
2404:
2402:
2399:
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2377:
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2083:
2080:
2076:
2073:
2072:
2071:
2070:
2066:
2065:
2063:
2059:
2053:
2052:Osteopetrosis
2050:
2048:
2045:
2043:
2040:
2039:
2037:
2035:
2031:
2025:
2022:
2020:
2017:
2015:
2012:
2011:
2009:
2007:
2003:
1997:
1994:
1992:
1989:
1987:
1984:
1983:
1981:
1979:
1975:
1969:
1966:
1965:
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1961:
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1927:
1925:
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1229:
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1213:
1209:
1206:(4): 104185.
1205:
1201:
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1187:
1185:
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724:
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582:
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567:
564:
559:
555:
549:
546:
539:
531:
527:
523:
519:
516:
512:
509:
508:Ancient Greek
505:
500:
497:
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485:
483:
476:
474:
472:
466:
464:
460:
451:
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446:
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389:
385:
381:
377:
374:
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369:
367:
365:
361:
356:
348:
346:
343:
341:
340:lymphangiomas
337:
333:
329:
324:
316:
314:
312:
307:
303:
299:
295:
290:
282:
280:
277:
273:
268:
266:
262:
257:
249:
245:
244:Hypertelorism
242:
239:
235:
232:
229:
225:
221:
218:
215:
211:
208:
204:
203:
202:
200:
196:
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187:
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177:
174:
170:
163:
161:
158:
152:
144:
142:
139:
132:
130:
127:
123:
122:short stature
119:
115:
112:
109:
106:is a type of
105:
100:
92:
87:
85:
81:
79:
78:rare diseases
75:
71:
67:
63:
53:
51:
47:
43:
39:
34:
19:
2166:
2135:
2107:
2067:
1945:
1937:
1888:
1864:
1853:
1842:
1831:
1812:
1777:. Retrieved
1767:
1734:11343/290811
1716:
1712:
1665:11343/293252
1647:
1643:
1594:
1590:
1541:
1537:
1527:
1508:
1504:
1458:
1454:
1407:
1403:
1392:
1357:
1353:
1305:
1301:
1250:
1247:Bone Reports
1246:
1236:
1203:
1199:
1162:
1154:
1143:. Retrieved
1134:
1123:. Retrieved
1119:
1110:
1099:. Retrieved
1095:
1086:
1061:
1057:
1047:
1036:. Retrieved
1032:
1023:
1014:
1006:
995:. Retrieved
991:
982:
971:. Retrieved
967:
958:
947:. Retrieved
943:
920:. Retrieved
916:
907:
895:. Retrieved
883:
873:
861:. Retrieved
849:
839:
806:
802:
796:
759:
755:
708:
704:
648:11343/286524
630:
626:
615:
580:
576:
566:
558:the original
548:
529:
525:
522:(khĂłndro(s))
521:
518:
514:
511:
499:
480:
467:
455:
441:cleft palate
435:
433:
427:
418:
375:
359:
358:
344:
332:enchondromas
327:
326:
300:caused by a
293:
292:
269:
260:
259:
190:
189:
167:
154:
136:
103:
102:
82:
65:
61:
59:
2159:enchondroma
2116:(including
1779:14 December
506:: from
336:hemangiomas
306:chromosomal
207:collarbones
41:Other names
2395:Categories
1978:Metaphysis
1890:Patient UK
1855:DiseasesDB
1253:: 101106.
1145:2007-12-23
1125:2022-11-18
1101:2022-11-18
1038:2022-11-18
997:2022-11-18
973:2022-11-18
949:2022-11-18
922:2022-11-18
762:(1): 161.
540:References
515:(ostéo(n))
477:Management
214:fontanelle
195:collarbone
54:Orthopedic
2155:Chondroma
2006:Epiphysis
1960:Diaphysis
1871:240190009
1866:SNOMED CT
1743:1552-4825
1674:1552-4825
1613:0002-9378
1324:1098-3600
1228:232122235
1070:0019-6061
711:(2): 25.
673:204813822
657:1552-4825
526:ÎŽÏ
Ï (dus)
520:ÏÏΜΎÏÎż(Ï)
504:Etymology
486:Footnotes
452:Treatment
445:arthritis
415:Diagnosis
108:autosomal
74:cartilage
50:Specialty
2118:dwarfism
1759:35361558
1751:26754314
1690:22251966
1682:28763154
1621:30048634
1568:25812601
1483:11287381
1475:25820806
1436:34341520
1384:31211405
1332:30696995
1277:34307793
1220:33662637
1078:16528117
897:16 April
892:20301472
863:16 April
858:20301660
831:25933218
823:17879967
788:32580780
727:79825711
665:31633310
607:25939055
513:áœÏÏÎÎż(Îœ)
311:skeletal
302:deletion
238:forehead
226:include
118:dwarfism
111:dominant
2303:type 1B
2287:SLC26A2
1849:D010009
1559:8923052
1427:8327889
1375:6581069
1268:8283316
779:7313125
598:5507692
338:. Also
265:lesions
199:cranium
2270:type 2
2254:COL2A1
1838:184260
1757:
1749:
1741:
1688:
1680:
1672:
1619:
1611:
1566:
1556:
1481:
1473:
1434:
1424:
1382:
1372:
1330:
1322:
1275:
1265:
1226:
1218:
1171:
1076:
1068:
890:
856:
829:
821:
786:
776:
725:
671:
663:
655:
605:
595:
436:COL2A1
2219:FGFR3
2200:FGFR2
1860:34854
1755:S2CID
1686:S2CID
1479:S2CID
1224:S2CID
1196:(PDF)
827:S2CID
723:S2CID
669:S2CID
510:
491:Notes
380:femur
370:Other
364:X-ray
272:tumor
88:Types
64:, or
2069:FLNB
1844:MeSH
1833:OMIM
1781:2023
1747:PMID
1739:ISSN
1678:PMID
1670:ISSN
1617:PMID
1609:ISSN
1564:PMID
1542:2015
1471:PMID
1432:PMID
1380:PMID
1328:PMID
1320:ISSN
1273:PMID
1216:PMID
1169:ISBN
1074:PMID
1066:ISSN
899:2018
888:PMID
865:2018
854:PMID
819:PMID
784:PMID
661:PMID
653:ISSN
603:PMID
222:The
72:and
70:bone
1827:Q78
1823:Q77
1814:ICD
1729:hdl
1721:doi
1717:170
1660:hdl
1652:doi
1648:173
1599:doi
1595:219
1554:PMC
1546:doi
1513:doi
1463:doi
1422:PMC
1412:doi
1370:PMC
1362:doi
1310:doi
1263:PMC
1255:doi
1208:doi
1013:at
811:doi
807:143
774:PMC
764:doi
713:doi
643:hdl
635:doi
631:179
593:PMC
585:doi
304:of
60:An
2397::
1893::
1869::
1858::
1847::
1836::
1821::
1818:10
1753:.
1745:.
1737:.
1727:.
1715:.
1711:.
1698:^
1684:.
1676:.
1668:.
1658:.
1646:.
1642:.
1629:^
1615:.
1607:.
1593:.
1589:.
1576:^
1562:.
1552:.
1540:.
1536:.
1509:48
1507:.
1503:.
1491:^
1477:.
1469:.
1459:62
1457:.
1444:^
1430:.
1420:.
1408:23
1406:.
1402:.
1378:.
1368:.
1356:.
1352:.
1340:^
1326:.
1318:.
1306:21
1304:.
1300:.
1285:^
1271:.
1261:.
1251:15
1249:.
1245:.
1222:.
1214:.
1204:64
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1198:.
1183:^
1118:.
1094:.
1072:.
1062:43
1060:.
1056:.
1031:.
990:.
966:.
942:.
931:^
915:.
882:.
848:.
825:.
817:.
805:.
782:.
772:.
760:15
758:.
754:.
735:^
721:.
707:.
703:.
681:^
667:.
659:.
651:.
641:.
629:.
625:.
601:.
591:.
581:16
579:.
575:.
465:.
2221::
2202::
2157:/
2120:)
2110:/
1948:/
1930:e
1923:t
1916:v
1825:-
1816:-
1806:D
1783:.
1761:.
1731::
1723::
1692:.
1662::
1654::
1623:.
1601::
1570:.
1548::
1521:.
1515::
1485:.
1465::
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