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Dwarfism, proportionate, with hip dislocation

MedGen UID:
347392
Concept ID:
C1857196
Disease or Syndrome
Synonym: Dwarfism, Proportionate, with Hip Dislocation
 
Monarch Initiative: MONDO:0009129
OMIM®: 223550

Clinical features

From HPO
Severe short stature
MedGen UID:
3931
Concept ID:
C0013336
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Hip dislocation
MedGen UID:
42455
Concept ID:
C0019554
Injury or Poisoning
Displacement of the femur from its normal location in the hip joint.

Recent clinical studies

Etiology

Nerakh G, Vineeth VS, Tallapaka K, Nair L, Dalal A, Aggarwal S
Am J Med Genet A 2022 Jul;188(7):2139-2146. Epub 2022 Mar 17 doi: 10.1002/ajmg.a.62725. PMID: 35298084
Khachnaoui-Zaafrane K, Ouertani I, Zanati A, Kandara H, Maazoul F, Mrad R
Eur J Med Genet 2022 Mar;65(3):104448. Epub 2022 Feb 9 doi: 10.1016/j.ejmg.2022.104448. PMID: 35150935
Lamback EB, Chiarini S, Roposch A, Dattani MT
Clin Endocrinol (Oxf) 2021 Apr;94(4):590-597. Epub 2020 Nov 20 doi: 10.1111/cen.14365. PMID: 33147364
Guenther D, Kendoff D, Omar M, Cui LR, Gehrke T, Haasper C
J Arthroplasty 2015 Sep;30(9):1574-6. Epub 2015 Mar 31 doi: 10.1016/j.arth.2015.03.024. PMID: 25882609
Karatas AF, Bober MB, Rogers K, Duker AL, Ditro CP, Mackenzie WG
J Pediatr Orthop 2014 Sep;34(6):585-90. doi: 10.1097/BPO.0000000000000183. PMID: 24705347

Diagnosis

Lamback EB, Chiarini S, Roposch A, Dattani MT
Clin Endocrinol (Oxf) 2021 Apr;94(4):590-597. Epub 2020 Nov 20 doi: 10.1111/cen.14365. PMID: 33147364
Yao M, Li H
J Int Med Res 2020 May;48(5):300060520921334. doi: 10.1177/0300060520921334. PMID: 32366149Free PMC Article
Bayhan IA, Er MS, Nishnianidze T, Ditro C, Rogers KJ, Miller F, Mackenzie WG
J Pediatr Orthop 2016 Oct-Nov;36(7):709-14. doi: 10.1097/BPO.0000000000000530. PMID: 26296216
Karatas AF, Bober MB, Rogers K, Duker AL, Ditro CP, Mackenzie WG
J Pediatr Orthop 2014 Sep;34(6):585-90. doi: 10.1097/BPO.0000000000000183. PMID: 24705347
Khoshhal K, Letts RM
Clin Orthop Relat Res 2002 Aug;(401):65-74. doi: 10.1097/00003086-200208000-00010. PMID: 12151884

Therapy

Yao M, Li H
J Int Med Res 2020 May;48(5):300060520921334. doi: 10.1177/0300060520921334. PMID: 32366149Free PMC Article
Kocaoğlu M, Bilen FE, Dikmen G, Balci HI, Eralp L
Acta Orthop Traumatol Turc 2014;48(2):157-63. doi: 10.3944/AOTT.2014.3274. PMID: 24747623
Meazza C, Lausch E, Pagani S, Bozzola E, Calcaterra V, Superti-Furga A, Silengo M, Bozzola M
Ital J Pediatr 2013 Mar 21;39:21. doi: 10.1186/1824-7288-39-21. PMID: 23517720Free PMC Article
Bobrow M, Emerson PM, Spriggs AI, Ellis HL
Am J Dis Child 1973 Aug;126(2):257-60. doi: 10.1001/archpedi.1973.02110190227024. PMID: 4125054

Prognosis

Hu R, Qiu Y, Li Y, Li J
Mol Genet Genomic Med 2022 Mar;10(3):e1886. Epub 2022 Feb 9 doi: 10.1002/mgg3.1886. PMID: 35137569Free PMC Article
Guenther D, Kendoff D, Omar M, Cui LR, Gehrke T, Haasper C
J Arthroplasty 2015 Sep;30(9):1574-6. Epub 2015 Mar 31 doi: 10.1016/j.arth.2015.03.024. PMID: 25882609
Al Kaissi A, Ganger R, Mindler G, Karner C, Klaushofer K, Grill F
Afr J Paediatr Surg 2015 Jan-Mar;12(1):36-40. doi: 10.4103/0189-6725.150969. PMID: 25659548Free PMC Article
Nectoux E, Hocquet B, Fron D, Mezel A, Paris A, Herbaux B
Orthop Traumatol Surg Res 2013 Oct;99(6):745-8. Epub 2013 Sep 12 doi: 10.1016/j.otsr.2013.04.006. PMID: 24035654
Khoshhal K, Letts RM
Clin Orthop Relat Res 2002 Aug;(401):65-74. doi: 10.1097/00003086-200208000-00010. PMID: 12151884

Clinical prediction guides

Hu R, Qiu Y, Li Y, Li J
Mol Genet Genomic Med 2022 Mar;10(3):e1886. Epub 2022 Feb 9 doi: 10.1002/mgg3.1886. PMID: 35137569Free PMC Article
Andrzejewski A, Péjin Z, Finidori G, Badina A, Glorion C, Wicart P
J Pediatr Orthop 2021 Feb 1;41(2):e135-e140. doi: 10.1097/BPO.0000000000001708. PMID: 33165262
Bayhan IA, Er MS, Nishnianidze T, Ditro C, Rogers KJ, Miller F, Mackenzie WG
J Pediatr Orthop 2016 Oct-Nov;36(7):709-14. doi: 10.1097/BPO.0000000000000530. PMID: 26296216
Guenther D, Kendoff D, Omar M, Cui LR, Gehrke T, Haasper C
J Arthroplasty 2015 Sep;30(9):1574-6. Epub 2015 Mar 31 doi: 10.1016/j.arth.2015.03.024. PMID: 25882609
Kocaoğlu M, Bilen FE, Dikmen G, Balci HI, Eralp L
Acta Orthop Traumatol Turc 2014;48(2):157-63. doi: 10.3944/AOTT.2014.3274. PMID: 24747623

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