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Larsen Syndrome and the Hip

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The Pediatric and Adolescent Hip

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Abstract

Larsen syndrome (LS) is an autosomal dominant condition occurring due to certain types of mutation in filamin-B (FLN-B), in which there are consequent multiple large joint dislocations (those of the knees being signature), cervical spine vertebral body hypoplasia, and characteristic flattened facies. However, LS is an uncommon (<10%) cause of congenital dislocation of the knee (CDK). When LS is considered, there is a wide differential diagnosis. Thus, the involvement of a geneticist is mandatory, not least as some of those conditions have potentially lethal associations and more limited life expectancy. In addition to the knees, despite marked inter- and intra-familial phenotypic variation, the hips are also usually dislocated. The natural history of LS hips whether enlocated or dislocated is not known; nor are there outcome data on LS hips that have been reduced. For LS bilateral dislocated hips, a minority of surgeons have argued for leaving the hips untreated. However, if operative hip reduction is performed it must be preceded by reduction of the knee dislocations. Although for CDK, most would attempt serial casting initially, this is usually not successful in LS, and a surgical strategy is typically required, involving quadriceps tenotomy, femoral shortening, and/or VY quadriceps lengthening with anterior arthrotomy. The hip surgery has to be performed expediently to minimise time spent in spica cast, to decrease the risks of knee stiffness and fixed flexion deformity.

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References

  1. Harris R, Cullen CH. Autosomal dominant inheritance in Larsen’s syndrome. Clin Genet. 1971;2:87–90.

    Article  CAS  PubMed  Google Scholar 

  2. Larsen LJ, Schottstaedt ER, Bost FC. Multiple congenital dislocations associated with characteristic facial abnormality. J Pediatr. 1950;37:574–81.

    Article  CAS  PubMed  Google Scholar 

  3. Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krackow D, Robertson SP. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet. 2007;44:89–98.

    Article  CAS  PubMed  Google Scholar 

  4. Robertson S. FLNB-related disorders. Gene Reviews. 2013. https://www.ncbi.nlm.nih.gov/books/NBK2534/. Accessed 2 Mar 2018.

  5. Trigueros AP, Vazquez JLV, de Miguel GFD. Larsen’s syndrome: report of three cases in the one family, mother and two offspring. Acta Orthop Scand. 1978;49:582–8.

    Article  CAS  PubMed  Google Scholar 

  6. Johnston CE II, Birch JG, Daniels JL. Cervical kyphosis in patients who have Larsen syndrome. J Bone Joint Surg Am. 1996;78:538–45.

    Article  PubMed  Google Scholar 

  7. Silverman FN. Larsen’s syndrome: congenital dislocation of the knees and other joints, distinctive facies and, frequently, cleft palate. Ann Radiol. 1972;15:297–328.

    CAS  PubMed  Google Scholar 

  8. Bell MJ, Atkins R, Sharrard WJW. Irreducible congenital dislocation of the knee. J Bone Joint Surg Br. 1987;69:403–6.

    Article  CAS  PubMed  Google Scholar 

  9. Jacobsen K, Vopalecky F. Congenital dislocation of the knee. Acta Orthop Scand. 1985;56:1–7.

    Article  CAS  PubMed  Google Scholar 

  10. Laurence M. Genu recurvatum congenitum. J Bone Joint Surg Br. 1967;49:121–34.

    Article  CAS  PubMed  Google Scholar 

  11. Ooishi T, Sugioka Y, Matsumoto S, Fujii T. Congenital dislocation of the knee: its pathological features and treatment. Clin Orthop Relat Res. 1993;(287):187–92.

    Google Scholar 

  12. Shah NR, Limpaphayom N, Dobbs MB. A minimally invasive treatment protocol for the congenital dislocation of the knee. J Pediatr Orthop. 2009;29:720–5.

    Article  PubMed  Google Scholar 

  13. Sud A, Chaudhry A, Mehtani A, Tiwari A, Sharma D. Functional outcome following quadriceps tendon lengthening in congenital dislocation of the knee, with special reference to extensor weakness. Strat Traum Limb Recon. 2009;4:123–7.

    Article  Google Scholar 

  14. Tercier S, Shah H, Joseph B. Quadricepsplasty for congenital dislocation of the knee and congenital quadriceps contracture. J Child Orthop. 2012;6:397–410.

    Article  PubMed  PubMed Central  Google Scholar 

  15. Dobbs MB, Boehm S, Grange DK, Gurnett CA. Congenital knee dislocation in a patient with Larsen syndrome and a novel filamin B mutation. Clin Orth Relat Res. 2008;466:1503–9.

    Article  Google Scholar 

  16. Shattock SG. Genu recurvatum in a foetus at term. Trans Pathol Soc Lond. 1891;41:280–92.

    Google Scholar 

  17. Michelsson JE, Langenskiold A. Dislocation or subluxation of the hip. Regular sequels of immobilisation of the knee in extension of young rabbits. J Bone Joint Surg Am. 1972;54:1177–86.

    Article  CAS  PubMed  Google Scholar 

  18. Goldberg MJ. Syndromes of orthopedic importance. In: Morrissy RT, Weinstein SL, editors. Lovell and Winter’s pediatric orthopaedics. Philadelphia, PA: Lippincott-Raven; 1996. p. 265.

    Google Scholar 

  19. Al-Kaissi A, Ganger R, Klaushofer K, Grill F. The management of knee dislocation in a child with Larsen syndrome. Clinics. 2011;66:1295–9.

    Article  Google Scholar 

  20. Hermanns P, Unger S, Rossi A, Perez-Aytes A, Cortina H, Bonafe L, Boccone L, Setzu V, Dutoit M, Sangiorgi L, Pecora F, Reicherter K, Nishimura G, Spranger J, Zabel B, Superti-Furga A. Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. Am J Hum Genet. 2008;82:1368–74.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  21. Bonaventure J, Lasselin C, Mellier J, Cohen-Solal L, Maroteaux P. Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome. J Med Genet. 1992;29:465–70.

    CAS  PubMed  PubMed Central  Google Scholar 

  22. Chen H, Chang C-H, Perrin E, Perrin J. A lethal Larsen-like multiple joint dislocation syndrome. Am J Med Genet. 1982;13:149–61.

    Article  CAS  PubMed  Google Scholar 

  23. Laville JM, Lakermance P, Limouzy F. Larsen’s syndrome: review of literature and analysis of thirty-eight cases. J Pediatr Orthop. 1994;14:63–73.

    Article  CAS  PubMed  Google Scholar 

  24. Maroteaux P. L’heterogeneite du syndrome de Larsen. Arch Pediatr. 1975;32:597–600.

    CAS  Google Scholar 

  25. Shohat M, Lachman R, Gruber HE, Hsia E, Golbus MS, Witt DR, Bodell A, Bryke CR, Hogge WA, Rimoin DL. Desbuquois syndrome: clinical, radiographic, and morphologic characterization. Am J Med Genet. 1994;52:9–18.

    Article  CAS  PubMed  Google Scholar 

  26. Beemer FA, Kramer PP, van der Harten HJ, Gerards LJ. A new syndrome of dwarfism, neonatal death, narrow chest, spondylometaphyseal abnormalities and advanced bone age. Am J Med Genet. 1985;20:555–8.

    Article  CAS  PubMed  Google Scholar 

  27. Topley JM, Varady E, Lestringant GG. Larsen syndrome in siblings with consanguineous parents. Clin Dysmorphol. 1994;3:263–5.

    Article  CAS  PubMed  Google Scholar 

  28. Habermann ET, Sterling A, Dennis RI. Larsen’s syndrome: a heritable disorder. J Bone Joint Surg Am. 1976;58:558–61.

    Article  CAS  PubMed  Google Scholar 

  29. Bonafe L, Cormier-Daire V, Hall C, Lachman R, Mortier G, Mundlos S, Nishimura G, Sangiorgi L, Savarirayan R, Sillence D, Spranger J, Superti-Furga A, Warman M, Unger S. Nosology and classification of genetic skeletal disorders: 2015 revision. Am J Med Genet Part A. 2015;167:2869–92.

    Article  CAS  Google Scholar 

  30. Alembik Y, Stoll C, Messer J. On the phenotypic overlap between “severe” otopalato digital type II syndrome and Larsen syndrome. Variable manifestation of a single autosomal dominant gene. Genet Couns. 1997;8:133–7.

    CAS  PubMed  Google Scholar 

  31. Becker R, Wegner RD, Kunze J, Runkel S, Vogel M, Entezami M. Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection in a severely affected fetus. Clin Genet. 2000;57:148–50.

    Article  CAS  PubMed  Google Scholar 

  32. Zhang D, Herring J, Swaney SS, McClendon TB, Gao X, Browne RH, Rathjen KE, Johnston CE, Harris S, Cain NM, Wise CA. Mutations responsible for Larsen syndrome cluster in the FLNB protein. J Med Genet. 2006;43:e24.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  33. Vujic M, Hallstensson K, Wahlstrom J, Lundberg A, Langmaack C, Martinson T. Localisation of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from, the COL7A1 locus. Am J Hum Genet. 1995;57:1104–13.

    CAS  PubMed  PubMed Central  Google Scholar 

  34. Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A, Bacino CA, Allanson J, Bailer MG, Lachman RS, Rimoin DL, Cohn DH. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 2004;36:405–10.

    Article  CAS  PubMed  Google Scholar 

  35. Feng Y, Walsh CA. The many faces of filamin: a versatile molecular scaffold for cell motility and signaling. Nat Cell Biol. 2004;6:1034–8.

    Article  CAS  PubMed  Google Scholar 

  36. Nakamura F, Stossel TP, Hartwig JH. The filamins. Organizers of cell structure and function. Cell Adhes Migr. 2011;5:160–9.

    Article  Google Scholar 

  37. Xu Q, Wu N, Cui L, Wu Z, Qiu G. Filamin B: the next hotspot in skeletal research? J Genet Genomics. 2017;44:335–42.

    Article  PubMed  Google Scholar 

  38. Sneha P, Kumar TD, Himani T, Siva R, George PDC, Zayed H. Structural analysis of G1691S variant in the human Filamin B gene responsible for Larsen syndrome: a comparative computational approach. J Cell Biochem. 2017;118:1900–10.

    Article  CAS  Google Scholar 

  39. Frints SG, De Smet L, Fabry G, Fryns JP. A young female with asymmetric manifestations of Larsen syndrome: another example of unilateral somatic cell-line mosaicism. Clin Dysmorphol. 2000;9:273–6.

    Article  CAS  PubMed  Google Scholar 

  40. McFarlane AL. A report on four cases of congenital recurvatum occurring in one family. Brit J Surg. 1947;34:388–9.

    Article  CAS  PubMed  Google Scholar 

  41. Oki T, Terashima Y, Murachi S, Nogami H. Clinical features and treatment of joint dislocations in Larsen’s syndrome: report of three cases in one family. Clin Orthop Relat Res. 1976;(119):206–10.

    Google Scholar 

  42. Steel HH, Kohl EJ. Multiple congenital dislocations associated with other skeletal anomalies (Larsen’s syndrome) in three siblings. J Bone Joint Surg Am. 1972;54:75–82.

    Article  CAS  PubMed  Google Scholar 

  43. Cetta G, Ruggeri A, Tenni R, Boni M. Biochemical and structural abnormalities of the connective tissue in Larsen’s syndrome. Int Orthop. 1979;3:47–53.

    Article  CAS  PubMed  Google Scholar 

  44. Pierquin G, Van Regemorter N, Hayez-Delatte FC, Bormans J, Foerster M, Damis E, Cremer-Perlmutter N, Lapiere CM, Vamos E. Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome. Hum Genet. 1991;87:587–91.

    Article  CAS  PubMed  Google Scholar 

  45. Babat LB, Ehrlich MG. A paradigm for the age-related treatment of knee dislocations in Larsen’s syndrome. J Pediatr Orthop. 2000;20:396–401.

    CAS  PubMed  Google Scholar 

  46. Lakshmanan P, Sharma A, Hemmadi S, Fairclough JA. Open reduction of congenital dislocation of the knee: a report on two cases. Eur J Orthop Surg Traumatol. 2004;14:249–51.

    Article  Google Scholar 

  47. Williams PF. Quadriceps contracture. J Bone Joint Surg Br. 1968;50:278–84.

    Article  CAS  PubMed  Google Scholar 

  48. Bensahel H, Dal Monte A, Hjelmstedt A, Bjerkreim I, Wientroub S, Matosovic T, Porat S, Bialik V. Congenital dislocation of the knee. J Pediatr Orthop. 1989;9:174–7.

    Article  CAS  PubMed  Google Scholar 

  49. Uhthoff HK, Ogata S. Early intrauterine presence of congenital dislocation of the knee. J Pediatr Orthop. 1994;14:254–7.

    Article  CAS  PubMed  Google Scholar 

  50. Katz MP, Grogono BJS, Soper KC. The etiology and treatment of congenital dislocation of the knee. J Bone Joint Surg Br. 1967;49:112–20.

    Article  CAS  PubMed  Google Scholar 

  51. Ferris B, Aichroth P. The treatment of congenital knee dislocation. Clin Orthop Relat Res. 1987;216:135–40.

    Google Scholar 

  52. Baasanjav S, Al-Gazali L, Hashiguchi T, Mizumoto S, Fischer B, Horn D, Seelow D, Ali BR, Aziz SAA, Langer R, Saleh AAH, Becker C, Nurnberg G, Cantagrel V, Gleeson JG, Gomez D, Michel J-B, Stricker S, Lindner TH, Nurnberg P, Sugahara K, Mundios S, Hoffmann K. Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. Am J Hum Genet. 2011;89:15–27.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  53. Swensson RE, Linnebur AC, Paster SB. Striking aortic root dilatation in a patient with the Larsen syndrome. J Pediatr. 1975;86:914–5.

    Article  CAS  PubMed  Google Scholar 

  54. Bernkopf M, Hunt D, Koelling N, Morgan T, Collins AL, Fairhurst J, Robertson SP, Douglas AGL, Goriely A. Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen Syndrome: implications for genetic counseling in postzygotic mosaicism cases. Hum Mutat. 2017;38:1360–4.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  55. Offiah AC, Hall CM. Radiological diagnosis of the constitutional disorders of bone as easy as A, B, C? Pediatr Radiol. 2003;33:153–61.

    Article  PubMed  Google Scholar 

  56. Latta RJ, Graham GB, Aase J, Scham SM, Smith DW. Larsen’s syndrome: a skeletal dysplasia with multiple joint dislocation and unusual facies. J Pediatr. 1971;78:291–8.

    Article  CAS  PubMed  Google Scholar 

  57. Robertson FW, Koslowski K, Middleton RW. Larsen’s syndrome. Clin Pediatr. 1975;14:53–60.

    Article  CAS  Google Scholar 

  58. Cormier-Daire V, Savarirayan R, Unger S, Rimoin DL, Lachman RS. “Duplicate calcaneus”: a rare developmental defect observed in several skeletal dysplasias. Pediatr Radiol. 2001;31:38–42.

    Article  CAS  PubMed  Google Scholar 

  59. Mei H, He R, Liu K, Wu J, Tang J, Yan A. Presumed Larsen syndrome in a child: a case with 12-year follow-up. J Pediatr Orthop B. 2015;24:268–73.

    Article  PubMed  Google Scholar 

  60. Hosoe H, Miyamoto K, Wada E, Shimizu K. Surgical treatment of scoliosis in Larsen syndrome with bilateral hip dislocation. Spine. 2006;31:E302–6.

    Article  PubMed  Google Scholar 

  61. Merle C, Waldstein W, Lipman JD, Kasparek MF, Boettner F. One stage bilateral total hip arthroplasty in siblings with Larsen syndrome. Open Orthop J. 2016;10:569–76.

    Article  PubMed  PubMed Central  Google Scholar 

  62. Ko JY, Shih CH, Wenger DR. Congenital dislocation of the knee. J Pediatr Orthop. 1999;19:252–9.

    Article  CAS  PubMed  Google Scholar 

  63. Iwaya T, Sakahuchi R, Tsuyama N. The treatment of congenital dislocation of the knee with the Pavlik harness. Int Orthop. 1983;7:25–30.

    Article  CAS  PubMed  Google Scholar 

  64. Nogi J, MacEwen GD. Congenital dislocation of the knee. J Pediatr Orthop. 1982;2:509–13.

    Article  CAS  PubMed  Google Scholar 

  65. Johnson E, Audell R, Oppenheim WL. Congenital dislocation of the knee. J Pediatr Orthop. 1987;7:194–200.

    Article  CAS  PubMed  Google Scholar 

  66. Roy DR, Crawford AH. Percutaneous quadriceps recession: a technique for management of congenital hyperextension deformity of the knee in the neonate. J Pediatr Orthop. 1989;9:717–9.

    Article  CAS  PubMed  Google Scholar 

  67. Johnston CEII. Congenital deformities of the knee. In: Scott WN, editor. Insall and Scott surgery of the knee. Philadelphia, PA: Churchill-Livingstone; 2006.

    Google Scholar 

  68. Johnston CE II. Simultaneous open reduction of ipsilateral congenital dislocation of the hip and knee assisted by femoral diaphyseal shortening. J Pediatr Orthop. 2011;31:732–40.

    Article  PubMed  Google Scholar 

  69. Oetgen ME, Walick KS, Tulchin K, Karol LA, Johnston CE. Functional results after surgical treatment for congenital knee dislocation. J Pediatr Orthop. 2010;30:216–23.

    Article  PubMed  Google Scholar 

  70. Curtis BH, Fisher RL. Congenital hyperextension with anterior subluxation of the knee – surgical treatment and long-term observations. J Bone Joint Surg Am. 1969;51:255–69.

    Article  CAS  PubMed  Google Scholar 

  71. Niebauer JJ, King DE. Congenital dislocation of the knee. J Bone Joint Surg Am. 1960;42:207–25.

    Article  PubMed  Google Scholar 

  72. Munk S. Early operation of the dislocated knee in Larsen’s syndrome. A report of two cases. Acta Orthop Scand. 1988;59:582–4.

    Article  CAS  PubMed  Google Scholar 

  73. Rodriguez A, Asenjo B, Dominguez R, Lemaire R. Larsen syndrome: multicenter study of 12 new cases. Diagnosis, planning and results of treatment. Acta Orthop Belg. 1994;60:259–73.

    CAS  PubMed  Google Scholar 

  74. Joo SY, Park KB, Kim BR, Park HW, Kim HW. The ‘four-in-one’ procedure for habitual dislocation of the patella in children: early results in patients with severe generalised ligamentous laxity and aplasis of the trochlear groove. J Bone Joint Surg Br. 2007;89:1645–9.

    Article  CAS  PubMed  Google Scholar 

  75. Lutter LD. Larsen syndrome: clinical features and treatment. A report of two cases. J Pediatr Orthop. 1990;10:270–4.

    CAS  PubMed  Google Scholar 

  76. Malik P, Choudhry DK. Larsen syndrome and its anaesthetic considerations. Pediatr Anaesth. 2002;12:632–6.

    Article  Google Scholar 

  77. Karakas K, Percin EF, Percin S. Surgical risk factors in Larsen’s syndrome. Acta Orthop Belg. 2000;66:495–8.

    CAS  PubMed  Google Scholar 

  78. Rock MJ, Green CG, Pauli RM, Peters ME. Tracheomalacia and bronchomalacia associated with Larsen Syndrome. Pediatr Pulmonol. 1988;5:55–9.

    Article  CAS  PubMed  Google Scholar 

  79. Ronningen H, Bjerkreim I. Larsen’s syndrome. Acta Orthop Scand. 1978;49:138–42.

    Article  CAS  PubMed  Google Scholar 

  80. Crowe AV, Kearns DB, Mitchell DB. Tracheal stenosis in Larsen’s syndrome. Arch Otolaryngol Head Neck Surg. 1989;115:626.

    Article  CAS  PubMed  Google Scholar 

  81. Saricaoglu F, Dal D. Cardiac arrest in a patient with Larsen syndrome under sevoflurane anesthesia. Pediatr Anaesth. 2004;14:889.

    Article  Google Scholar 

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Authors and Affiliations

  1. Senior Attending Physician in Pediatric, Orthopedic Surgery, Sidra Medicine, Doha, Qatar

    James S. Huntley

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  1. James S. Huntley
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Editors and Affiliations

  1. Clinical Director of Paediatric Trauma and Orthopaedic Surgery, Royal Manchester Children Hospital, Manchester University NHS Foundation Trust, Manchester, UK

    Sattar Alshryda

  2. Weill Cornell Medicine, Chief of Orthopaedic Surgery Sidra Medicine, Doha, Qatar

    Jason J. Howard

  3. Senior Attending Physician in Pediatric Orthopedic Surgery, Sidra Medicine, Doha, Qatar

    James S. Huntley

  4. Vanderbilt University Medical Center, Jeffrey Mast Chair of Orthopaedic Hip and Trauma Surgery, Nashville, TN, USA

    Jonathan G. Schoenecker

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Huntley, J.S. (2019). Larsen Syndrome and the Hip. In: Alshryda, S., Howard, J., Huntley, J., Schoenecker, J. (eds) The Pediatric and Adolescent Hip. Springer, Cham. https://doi.org/10.1007/978-3-030-12003-0_26

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