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Multiple long-bone exostoses

MedGen UID:
332012
Concept ID:
C1835583
Finding
Synonym: Multiple exostoses of long tubular bones
 
HPO: HP:0005039

Definition

Multiple exostoses originating in long bones. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMultiple long-bone exostoses

Conditions with this feature

Langer-Giedion syndrome
MedGen UID:
6009
Concept ID:
C0023003
Disease or Syndrome
Trichorhinophalangeal syndrome (TRPS) comprises TRPS I (caused by a heterozygous pathogenic variant in TRPS1) and TRPS II (caused by contiguous gene deletion of TRPS1, RAD21, and EXT1). Both types of TRPS are characterized by distinctive facial features; ectodermal features (fine, sparse, depigmented, and slow growing hair; dystrophic nails; and small breasts); and skeletal findings (short stature; short feet; brachydactyly with ulnar or radial deviation of the fingers; and early, marked hip dysplasia). TRPS II is characterized by multiple osteochondromas (typically first observed clinically on the scapulae and around the elbows and knees between ages 1 month and 6 years) and an increased risk of mild-to-moderate intellectual disability.

Recent clinical studies

Etiology

Ahn YS, Woo SH, Kang SJ, Jung ST
BMC Musculoskelet Disord 2019 Nov 25;20(1):564. doi: 10.1186/s12891-019-2912-6. PMID: 31766997Free PMC Article
Konala P, Kiely N, Noakes C, Blair E, Cassar-Pullicino VN
Pediatr Radiol 2017 Jul;47(8):1016-1021. Epub 2017 May 10 doi: 10.1007/s00247-017-3839-4. PMID: 28493010
Kilpatrick SE, Pike EJ, Ward WG, Pope TL
Skeletal Radiol 1997 Jun;26(6):370-4. doi: 10.1007/s002560050250. PMID: 9229421

Diagnosis

Pontes ÍCM, Leão RV, Lobo CFT, Paula VT, Yamachira VS, Baptista AM, Helito PVP
Clin Imaging 2023 Nov;103:109989. Epub 2023 Sep 26 doi: 10.1016/j.clinimag.2023.109989. PMID: 37778187
Öztürk N, Karamık G, Mutlu H, Bayer ÖY, Mıhçı E, Çetin GO, Nur B
Turk J Pediatr 2023;65(1):81-95. doi: 10.24953/turkjped.2022.793. PMID: 36866988
Cho YJ, Lee JY, Lee WG, Jung ST
Clin Orthop Surg 2020 Dec;12(4):549-553. Epub 2020 Nov 18 doi: 10.4055/cios19121. PMID: 33274034Free PMC Article
Trombetta A, Migliarino V, Faletra F, Barbi E, Tornese G
Ital J Pediatr 2020 Jun 10;46(1):81. doi: 10.1186/s13052-020-00846-z. PMID: 32522262Free PMC Article
Himelstein BP
Curr Opin Oncol 1998 Jul;10(4):326-33. doi: 10.1097/00001622-199807000-00009. PMID: 9702400

Therapy

Himelstein BP
Curr Opin Oncol 1998 Jul;10(4):326-33. doi: 10.1097/00001622-199807000-00009. PMID: 9702400

Prognosis

Kilpatrick SE, Pike EJ, Ward WG, Pope TL
Skeletal Radiol 1997 Jun;26(6):370-4. doi: 10.1007/s002560050250. PMID: 9229421

Clinical prediction guides

Cho YJ, Lee JY, Lee WG, Jung ST
Clin Orthop Surg 2020 Dec;12(4):549-553. Epub 2020 Nov 18 doi: 10.4055/cios19121. PMID: 33274034Free PMC Article
Ahn YS, Woo SH, Kang SJ, Jung ST
BMC Musculoskelet Disord 2019 Nov 25;20(1):564. doi: 10.1186/s12891-019-2912-6. PMID: 31766997Free PMC Article
Konala P, Kiely N, Noakes C, Blair E, Cassar-Pullicino VN
Pediatr Radiol 2017 Jul;47(8):1016-1021. Epub 2017 May 10 doi: 10.1007/s00247-017-3839-4. PMID: 28493010
Huegel J, Mundy C, Sgariglia F, Nygren P, Billings PC, Yamaguchi Y, Koyama E, Pacifici M
Dev Biol 2013 May 1;377(1):100-12. Epub 2013 Mar 1 doi: 10.1016/j.ydbio.2013.02.008. PMID: 23458899Free PMC Article

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