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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

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
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
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

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
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
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

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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