Bilateral Femoral Neck Pseudarthrosis in an Adolescent Girl With Congenital Spondyloepiphyseal Dysplasia. The Treatment Journey: A Case Report.


Journal

JBJS case connector
ISSN: 2160-3251
Titre abrégé: JBJS Case Connect
Pays: United States
ID NLM: 101596828

Informations de publication

Date de publication:
01 Apr 2024
Historique:
medline: 5 4 2024
pubmed: 5 4 2024
entrez: 5 4 2024
Statut: epublish

Résumé

We describe the surgical management of a girl with dwarfism and congenital spondyloepiphyseal dysplasia, who presented in adolescence with coxa vara and bilateral pseudarthrosis between the femoral neck and the diaphysis, with asymmetric distal migration at both sites and leg length discrepancy. The patient at 16 years underwent valgus osteotomy in situ and femoral neck fixation in the left hip. The right hip was operated 19 months later. Hip dysplasia is common in spondyloepiphyseal dysplasia, but a debilitating nontraumatic bilateral pseudarthrosis at the base of the femoral neck has not been previously reported. Valgus corrective osteotomies of the femur in situ led to union and allowed the patient to walk.

Identifiants

pubmed: 38579104
doi: 10.2106/JBJS.CC.22.00585
pii: 01709767-202406000-00002
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

Copyright © 2024 by The Journal of Bone and Joint Surgery, Incorporated.

Déclaration de conflit d'intérêts

Disclosure: The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article (http://links.lww.com/JBJSCC/C319).

Références

Nishimura G, Haga N, Kitoh H, Tanaka Y, Sonoda T, Kitamura M, Shirahama S, Itoh T, Nakashima E, Ohashi H, Ikegawa S. The phenotypic spectrum of COL2A1 mutations. Hum Mutat. 2005;26(1):36-43.
Terhal PA, Nievelstein RJAJ, Verver EJJ, Topsakal V, van Dommelen P, Hoornaert K, Le Merrer M, Zankl A, Simon MEH, Smithson SF, Marcelis C, Kerr B, Clayton-Smith J, Kinning E, Mansour S, Elmslie F, Goodwin L, van der Hout AH, Veenstra-Knol HE, Herkert JC, Lund AM, Hennekam RCM, Mégarbané A, Lees MM, Wilson LC, Male A, Hurst J, Alanay Y, Annerén G, Betz RC, Bongers EMHF, Cormier-Daire V, Dieux A, David A, Elting MW, van den Ende J, Green A, van Hagen JM, Hertel NT, Holder-Espinasse M, den Hollander N, Homfray T, Hove HD, Price S, Raas-Rothschild A, Rohrbach M, Schroeter B, Suri M, Thompson EM, Tobias ES, Toutain A, Vreeburg M, Wakeling E, Knoers NV, Coucke P, Mortier GR. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A. 2015;167A(3):461-75.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and genomics and the association for molecular pathology. Genet Med official J Am Coll Med Genet. 2015;17(5):405-24.
Spranger JW, Langer LO. Spondyloepiphyseal dysplasia congenita. Radiology. 1970;94(2):313-22.
Wood TC, Harvey K, Beck M, Burin MG, Chien YH, Church HJ, D'Almeida V, van Diggelen OP, Fietz M, Giugliani R, Harmatz P, Hawley SM, Hwu WL, Ketteridge D, Lukacs Z, Miller N, Pasquali M, Schenone A, Thompson JN, Tylee K, Yu C, Hendriksz CJ. Diagnosing mucopolysaccharidosis IVA. J Inherit Metab Dis. 2013;36(2):293-307.
Langer LO, Brill PW, Ozonoff MB, Pauli RM, Wilson WG, Alford BA, Pavlov H, Drake DG. Spondylometaphyseal dysplasia, corner fracture type: a heritable condition associated with coxa vara. Radiology. 1990;175(3):761-6.
Maroteaux P, Spranger J. The spondylometaphyseal dysplasias. A tentative classification. Pediatr Radiol. 1991;21(4):293-7.
Barat-Houari M, Baujat G, Tran Mau Them F, Fabre A, Geneviève D, Touitou I. Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: lessons for genetic counseling. Am J Med Genet A. 2016;170A(1):263-5.
Tham E, Nishimura G, Geiberger S, Horemuzova E, Nilsson D, Lindstrand A, Hammarsjö A, Armenio M, Mäkitie O, Zabel B, Nordgren A, Nordenskjöld M, Grigelioniene G. Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia. Clin Genet. 2015;87(5):496-8.
Bisht RU, Van Tassel DC, Belthur MV. Spondyloepiphyseal dysplasia congenita: use of complementary 3D reconstruction imaging for preoperative planning. Clin Imaging. 2022;86:94-7.
Bayhan IA, Abousamra O, Rogers KJ, Bober MB, Miller F, Mackenzie WG. Valgus hip osteotomy in children with spondyloepiphyseal dysplasia congenita: midterm results. J Pediatr Orthop. 2019;39(6):282-8.
Wyles CC, Panos JA, Houdek MT, Trousdale RT, Berry DJ, Taunton MJ. Total hip arthroplasty reduces pain and improves function in patients with spondyloepiphyseal dysplasia: a long-term outcome study of 50 cases. J Arthroplasty. 2019;34(3):517-21.

Auteurs

Classifications MeSH