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Forearm reduction defects

MedGen UID:
336575
Concept ID:
C1849327
Finding
HPO: HP:0006368

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVForearm reduction defects

Conditions with this feature

Diamond-Blackfan anemia 11
MedGen UID:
766956
Concept ID:
C3554042
Disease or Syndrome
Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.
Rothmund-Thomson syndrome type 2
MedGen UID:
1684753
Concept ID:
C5203410
Disease or Syndrome
Rothmund-Thomson syndrome (RTS) is characterized by a rash that progresses to poikiloderma; sparse hair, eyelashes, and/or eyebrows; small size; skeletal and dental abnormalities; juvenile cataracts; and an increased risk for cancer, especially osteosarcoma. A variety of benign and malignant hematologic abnormalities have been reported in affected individuals. The rash of RTS typically develops between ages three and six months (occasionally as late as age two years) as erythema, swelling, and blistering on the face, subsequently spreading to the buttocks and extremities. The rash evolves over months to years into the chronic pattern of reticulated hypo- and hyperpigmentation, telangiectasias, and punctate atrophy (collectively known as poikiloderma) that persist throughout life. Hyperkeratotic lesions occur in approximately one third of individuals. Skeletal abnormalities can include radial ray defects, ulnar defects, absent or hypoplastic patella, and osteopenia.

Professional guidelines

PubMed

Güngör F, Kılıç T
J Emerg Med 2017 May;52(5):702-706. Epub 2017 Mar 9 doi: 10.1016/j.jemermed.2017.01.049. PMID: 28284770
Rogers HW, Coldiron BM
J Am Acad Dermatol 2009 Jul;61(1):96-103. doi: 10.1016/j.jaad.2008.07.047. PMID: 19539843
Surlan M, Popovic P
Eur J Radiol 2003 May;46(2):96-114. doi: 10.1016/s0720-048x(03)00074-3. PMID: 12714226

Recent clinical studies

Etiology

Wang AY, Lo WK, Cheung SC, Tang TK, Yau YY, Lang BH
Nephrol Dial Transplant 2023 Jul 31;38(8):1823-1835. doi: 10.1093/ndt/gfad043. PMID: 36869794
Danby SG, Andrew PV, Taylor RN, Kay LJ, Chittock J, Pinnock A, Ulhaq I, Fasth A, Carlander K, Holm T, Cork MJ
Clin Exp Dermatol 2022 Jun;47(6):1154-1164. Epub 2022 Apr 12 doi: 10.1111/ced.15141. PMID: 35167133Free PMC Article
Zhou H, Lian C, Wang T, Yang X, Xu C, Su D, Zheng S, Huang X, Liao Z, Zhou T, Qiu X, Chen Y, Gao B, Li Y, Wang X, You G, Fu Q, Gurnett C, Huang D, Su P
EMBO Mol Med 2019 Mar;11(3) doi: 10.15252/emmm.201809709. PMID: 30777867Free PMC Article
Murphy GRF, Logan MPO, Smith G, Sivakumar B, Smith P
J Bone Joint Surg Am 2017 Dec 20;99(24):2120-2126. doi: 10.2106/JBJS.17.00164. PMID: 29257019Free PMC Article
Sun GH, Patil YJ, Harmych BM, Hom DB
J Craniofac Surg 2012 Jan;23(1):e62-5. doi: 10.1097/SCS.0b013e3182413e83. PMID: 22337468

Diagnosis

Danby SG, Andrew PV, Taylor RN, Kay LJ, Chittock J, Pinnock A, Ulhaq I, Fasth A, Carlander K, Holm T, Cork MJ
Clin Exp Dermatol 2022 Jun;47(6):1154-1164. Epub 2022 Apr 12 doi: 10.1111/ced.15141. PMID: 35167133Free PMC Article
Hoefert S, Lotter O
Clin Oral Investig 2018 May;22(4):1741-1750. Epub 2017 Nov 9 doi: 10.1007/s00784-017-2269-x. PMID: 29124365
Surlan M, Popovic P
Eur J Radiol 2003 May;46(2):96-114. doi: 10.1016/s0720-048x(03)00074-3. PMID: 12714226
Erlichman M, Holohan TV
Health Technol Assess (Rockv) 1996 Sep;(9):i-vi, 1-31. PMID: 9059877
Braddock SR, Lachman RS, Stoppenhagen CC, Carey JC, Ireland M, Moeschler JB, Cunniff C, Graham JM Jr
Am J Med Genet 1993 Nov 15;47(7):1006-13. doi: 10.1002/ajmg.1320470714. PMID: 8291513

Therapy

Sağır M, Güven E, Cerci Ozkan A, Kozanoğlu E
Ulus Travma Acil Cerrahi Derg 2023 Oct 27;29(11):1296-1302. doi: 10.14744/tjtes.2023.62186. PMID: 37889031Free PMC Article
Wang AY, Lo WK, Cheung SC, Tang TK, Yau YY, Lang BH
Nephrol Dial Transplant 2023 Jul 31;38(8):1823-1835. doi: 10.1093/ndt/gfad043. PMID: 36869794
Danby SG, Andrew PV, Taylor RN, Kay LJ, Chittock J, Pinnock A, Ulhaq I, Fasth A, Carlander K, Holm T, Cork MJ
Clin Exp Dermatol 2022 Jun;47(6):1154-1164. Epub 2022 Apr 12 doi: 10.1111/ced.15141. PMID: 35167133Free PMC Article
Park IJ, Roh YT, Shin SH, Park HY, Jeong C, Kang SH
Acta Orthop Traumatol Turc 2021 Mar;55(2):112-117. doi: 10.5152/j.aott.2021.20046. PMID: 33847572
Murphy GRF, Logan MPO, Smith G, Sivakumar B, Smith P
J Bone Joint Surg Am 2017 Dec 20;99(24):2120-2126. doi: 10.2106/JBJS.17.00164. PMID: 29257019Free PMC Article

Prognosis

Adani R, Petrella G, Corain M, Pantaleoni F
Hand Surg Rehabil 2023 Jun;42(3):208-213. Epub 2023 Mar 11 doi: 10.1016/j.hansur.2023.03.001. PMID: 36907274
Park IJ, Roh YT, Shin SH, Park HY, Jeong C, Kang SH
Acta Orthop Traumatol Turc 2021 Mar;55(2):112-117. doi: 10.5152/j.aott.2021.20046. PMID: 33847572
Murphy GRF, Logan MPO, Smith G, Sivakumar B, Smith P
J Bone Joint Surg Am 2017 Dec 20;99(24):2120-2126. doi: 10.2106/JBJS.17.00164. PMID: 29257019Free PMC Article
Sun GH, Patil YJ, Harmych BM, Hom DB
J Craniofac Surg 2012 Jan;23(1):e62-5. doi: 10.1097/SCS.0b013e3182413e83. PMID: 22337468
Braddock SR, Lachman RS, Stoppenhagen CC, Carey JC, Ireland M, Moeschler JB, Cunniff C, Graham JM Jr
Am J Med Genet 1993 Nov 15;47(7):1006-13. doi: 10.1002/ajmg.1320470714. PMID: 8291513

Clinical prediction guides

Sağır M, Güven E, Cerci Ozkan A, Kozanoğlu E
Ulus Travma Acil Cerrahi Derg 2023 Oct 27;29(11):1296-1302. doi: 10.14744/tjtes.2023.62186. PMID: 37889031Free PMC Article
Adani R, Petrella G, Corain M, Pantaleoni F
Hand Surg Rehabil 2023 Jun;42(3):208-213. Epub 2023 Mar 11 doi: 10.1016/j.hansur.2023.03.001. PMID: 36907274
Wang AY, Lo WK, Cheung SC, Tang TK, Yau YY, Lang BH
Nephrol Dial Transplant 2023 Jul 31;38(8):1823-1835. doi: 10.1093/ndt/gfad043. PMID: 36869794
Danby SG, Andrew PV, Taylor RN, Kay LJ, Chittock J, Pinnock A, Ulhaq I, Fasth A, Carlander K, Holm T, Cork MJ
Clin Exp Dermatol 2022 Jun;47(6):1154-1164. Epub 2022 Apr 12 doi: 10.1111/ced.15141. PMID: 35167133Free PMC Article
Murphy GRF, Logan MPO, Smith G, Sivakumar B, Smith P
J Bone Joint Surg Am 2017 Dec 20;99(24):2120-2126. doi: 10.2106/JBJS.17.00164. PMID: 29257019Free PMC Article

Recent systematic reviews

Barik S, Farr S, Gallone G, Zarantonello P, Trisolino G, Di Gennaro GL
J Pediatr Orthop B 2021 Nov 1;30(6):593-600. doi: 10.1097/BPB.0000000000000841. PMID: 33315801Free PMC Article
Mashrah MA, Aldhohrah TA, Abdelrehem Moustafa A, Al-Sharani HM, Alrmali A, Wang L
Int J Oral Maxillofac Surg 2021 Jan;50(1):21-31. Epub 2020 Jul 19 doi: 10.1016/j.ijom.2020.06.016. PMID: 32665139
Chattha A, Lee JC, Johnson PK, Patel A
J Craniofac Surg 2018 Nov;29(8):2010-2016. doi: 10.1097/SCS.0000000000004741. PMID: 30028401
Murphy GRF, Logan MPO, Smith G, Sivakumar B, Smith P
J Bone Joint Surg Am 2017 Dec 20;99(24):2120-2126. doi: 10.2106/JBJS.17.00164. PMID: 29257019Free PMC Article

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