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Vol. 2 No. 2 (2022)

Cleidocranial Dysostosis in a Family

Clinical Medicine And Health Research Journal, Vol. 2 No. 2 (2022), 30 March 2022 , Page 92-95
https://doi.org/10.18535/cmhrj.v2i2.35

Abstract

Cleidocranial dysostosis is a rare skeletal dysplasia that affects bones, especially the clavicles and the maxillofacial area due to the mutation of the CBFA1/ RUNX2 gene located in the 6p21 site, where genetic information that is responsible of bones and teeth formation may be found; this condition is also related to other mutations in other genes. A clinical, radiographic study is carried out to describe the behavior of cleidocranial dysostosis in a family taking also into account the pedigree of the affected family, four cases of a rare genetic syndromeis described where there is deformity with absence of clavicles and brachycephaly in 100 % of the patients. A lack of both clavicles and brachycephaly were the most common radiographic abnormalities found in four members of a family with a heritage pattern of adominant autonomic scale.

Keywords:
  • Cleidocranial dysostosis, Pierre Marie Sainton disease.

How to Cite

Martínez Estupiñan, P. ,MD L. M. ., Martínez Aparicio, M. L. ., Martínez Aparicio, M. L. ., & Bretón Espinosa, L. C. . (2022). Cleidocranial Dysostosis in a Family. Clinical Medicine And Health Research Journal, 2(2), 92–95. https://doi.org/10.18535/cmhrj.v2i2.35

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References

  • Avendaño A, Cammarata-Scalisi F, Rizal MF, Budiardjo SB, Suharsini M, Fauziah E, Grande NM, Fortunato L, Plotino G, Yavuz I, Callea M. (2018) Cleidocranial dysplasia. A molecular and clinical review. Int Dent Res.(1):35-8. DOI:10.5577/intdentres.2018.vol8.no1.6
  • Montes Carmona JF, Albarracín Arjona B, Rodríguez Jara PM, López Martos R, Fakih Gómez N, Hernández Guisado JM.(2016) Disostosis cleidocraneal. Rev Esp Cir Oral Maxilofac. 38(4):236.42.Disponible en: http://dx.doi.org/10.1016/j.maxilo.2015.03.003.
  • MárquezIbáñez, Nilson et al. Caracterización de la disostosis cleidocraneal en una familia. CCM [online]. 2013, vol.17, n.4 [citado 2020-12-16], pp.425-432. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1560-43812013000400002&lng=es&nrm=iso
  • Marchena Idavoy JL, Guzmán Pacheco EL, Idavoy Corona A, Hernández Leyva R, Vergel Gotero M.(2019) Síndrome de Scheuthauer Marie Sainton. Revista Cubana de Ortopedia y Traumatología.33(2):e167.
  • Hassi J, Izquierdo C, Narea G. (2019) Displasia Cleidocraneal: Manejo ortodóncico y quirúrgico, seguimiento a 10 años. Rev. Clin. Periodoncia Implantol. Rehabil. Oral.12(2):109-12.
  • DOI: 10.4067/S0719-01072019000200110
  • Mendes Queiroz M, Martins Coelho JE, Fuso Ruiz L, Castro Cervato R, do Val Cervelatti M, Prestes Gomes M, Pontes Muniz M. (2017) Displasia cleidocraniana: descrição com ênfase nos aspectos radiográficos de três casos em uma familia Medicina (Ribeirão Preto, Online.). 50(6):371-6.
  • http://dx.doi.org/10.11606/issn.2176-7262.v50i6p371-376
  • Dinçsoy Bir F, Dinçkan N, Güven Y, Baþ F, Altunoðlu U, Kuvvetli SS, et al. (2017) Cleidocranial dysplasia: clinical, endocrinologic and molecular findings in 15 patients from 11 families. Eur J Med Genet. 60(3):163-8.
  • Ming Ta Michael Lee, Anne Chun-Hui Tsai, Ching-Heng Chou, et al. (2008) Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial displasia. Genomic Med. 2:45-9. DOI 10.1007/s11568-008-9024-y
  • Hassan NMM, Dhillon A, Huang B. (2016) Cleidocranial dysplasia: Clinical overview and genetic considerations Pediatric Dental Journal. 26:45-50.
  • Toro B, Pérez A & Fierro C. (2012) Disostosis cleidocraneal: Revisión de la literatura a propósito de un caso clínico. J Oral Res. 1(1):22-6.
  • Arocha Rodríguez R, Vásquez Cruz CM, Vásquez Cruz A, Cruz Segundo R. (2002) Disostosis cleidocraneal. Estudio familiar. Rev Cubana Med. 41(3):178-84.
  • Hassi J, Izquierdo C, Narea G. Displasia Cleidocraneal: Manejo ortodóncico y quirúrgico, seguimiento a 10 años. Rev. Clin. Periodoncia Implantol. Rehabil. Oral. 2019;12(2):109-12. Disponible en: http://dx.doi.org/10.4067/S0719-01072019000200110
  • Eisen D. Cleidocranial dysostosis with a report of four cases. Radiology. 1953;61(21):
  • Montes Carmona JF, Albarracín Arjona B, Rodríguez Jara PM, López Martos R, Fakih Gómez N, Hernández Guisado JM. Disostosis cleidocraneal. Rev Esp Cir Oral Maxilofac. 2016;38(4):236–42.
  • Disponibleen: http://dx.doi.org/10.1016/j.maxilo.2015.03.003
  • Mendes Queiroz M, Martins Coelho JE, Fuso Ruiz L, Castro Cervato R, do Val Cervelatti M, Prestes Gomes M, Pontes Muniz M. Displasia cleidocraniana: descrição com ênfase nos aspectos radiográficos de três casos em uma familia. Medicina (Ribeirão Preto, Online.). 2017;50(6):371-6.
  • Disponible en: http://dx.doi.org/10.11606/issn.2176-7262.v50i6p371-376
  • Peralta‑Dzib A, Sansores‑Ambrosio F, Loria‑Mondragon T, Minaya‑Sanchez M, Casanova‑Rosado A, Casanova‑Rosado J. Disostosis cleidocraneal a tres años de tratamiento ortopédico. Revista ADM. 2020;77(4):222-6.
  • Disponible en:https://dx.doi.org/10.35366/95117
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