Acta Ortopédica Mexicana

Cammarata-Scalisi F, Stock F, Avendaño A, Cozar M, Balcells S, Grinberg D
Clinical and molecular study in a family with multiple osteochondromatosis
Acta Ortop Mex 2018; 32 (2)

Language: Español
References: 13
Page: 108-111
PDF: 171.44 Kb.

[Fulltext - PDF]


We present two cases of a family with the diagnosis of multiple osteochondromatosis, which was confirmed by molecular study with nonsense in heterozygosis mutation c.1219C›T, (p.Gln407Stop) in the EXT1 gene. In these cases, the Madelung deformity was presented in one patient as an uncommon finding and chondrosarcoma as a feared complication in the other case, highlighting intrafamilial variation, which is why individual and interdisciplinary evaluation is recommended. In addition, before a genetic entity should provide adequate and timely family genetic counseling to all its members.

Key words: Multiple osteochondromatosis, clinical, EXT1, genetic counseling.


  1. Medek K, Zeman J, Honzík T, Hansíková H, Švecová Š, Beránková K, et al. Hereditary multiple exostoses: clinical, molecular and radiologic survey in 9 families. Prague Med Rep. 2017; 118(2-3): 87-94.

  2. Delgado MA, Martinez-Domenech G, Sarrión P, Urreizti R, Zecchini L, Robledo HH, et al. A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG. Sci Rep. 2014; 4: 6407.

  3. Cammarata-Scalisi F, Cozar M, Grinberg D, Balcells S, Asteggiano CG, Martínez-Domenech G, et al. Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses. Arch Argent Pediatr. 2015; 113(2): e109-12.

  4. Phan AQ, Pacifici M, Esko JD. Advances in the pathogenesis and possible treatments for multiple hereditary exostoses from the 2016 international MHE conference. Connect Tissue Res. 2017; 59(1): 1-14.

  5. Pacifici M. Hereditary multiple exostoses: new insights into pathogenesis, clinical complications, and potential reatments. Curr Osteoporos Rep. 2017; 15(3): 142-52.

  6. D’Ambrosi R, Ragone V, Caldarini C, Serra N, Usuelli FG, Facchini RM. The impact of hereditary multiple exostoses on quality of life, satisfaction, global health status, and pain. Arch Orthop Trauma Surg. 2017; 137(2): 209-15.

  7. Jennes I, Pedrini E, Zuntini M, Mordenti M, Balkassmi S, Asteggiano CG, et al. Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). Hum Mutat. 2009; 30(12): 1620-7.

  8. Beltrami G, Ristori G, Scoccianti G, Tamburini A, Capanna R. Hereditary multiple exostoses: a review of clinical appearance and metabolic pattern. Clin Cases Miner Bone Metab. 2016; 13(2): 110-8.

  9. Al Kaissi A, Ben Ghachem M, Ben Chehida F, Hofstaetter JG, Grill F, Ganger R, et al. Can multiple hereditary exostoses overlap with mesomelic dysplasia? J Clin Med Res. 2016; 8(8): 605-9.

  10. Ali S, Kaplan S, Kaufman T, Fenerty S, Kozin S, Zlotolow DA. Madelung deformity and Madelung-type deformities: a review of the clinical and radiological characteristics. Pediatr Radiol. 2015; 45(12): 1856-63.

  11. Pedrini E, Jennes I, Tremosini M, Milanesi A, Mordenti M, Parra A, et al. Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of “protective” and “risk” factors. J Bone Joint Surg Am. 2011; 93(24): 2294-302.

  12. Cammarata-Scalisi F, Sánchez-Flores R, Stock-Leyton F, Labrador-Chacón N, Cammarata-Scalisi G. Exostosis múltiple hereditaria. Reporte de un caso y diagnóstico diferencial de las encondromatosis. Acta Ortop Mex. 2012; 26(6): 388-92.

  13. Gajavelli S, Nakhla J, Nasser R, Yassari R, Weidenheim KM, Graber J. Ollier disease with anaplastic astrocytoma: a review of the literature and a unique case. Surg Neurol Int. 2016; 7(Suppl 23): S607-11.