Márquez IN, Santana HEE, Marrero IJM, Fernández PGE, Tamayo CVJ

Language: Spanish
References: 17
Page: 425-432
PDF size: 150.57 Kb.

ABSTRACT

Introduction: cleidocranial dysplasia or dysostosis is a rare skeletal dysplasia that affects long bones, especially clavicles and maxillofacial area, number abnormalities, rash, prognathism and widening of the zygomatic arch can be observed. CBFA1/RUNX2 gene mutation located on 6p21 considered the master gene in the formation of bones and teeth is associated to the condition, as well as other mutations in other genes.
Objective: to describe the behavior of cleidocranial dysostosis in a family.
Methods: a clinical, radiographic study and the pedigree of the only one affected family by cleidocranial dysostosis, descendants of a Spanish immigrant who settled in the town of Urbano Noris and exerted a founder effect were described.
Results: deformity with shortening of clavicles and brachycephaly was presented in 100% of patients. In the second generation this deformity was not observed because this gene was expressed with reduced penetrance.
Conclusions: an autosomal dominant inheritance pattern, affecting 19 members in five generations was showed and only nine of them were studied, in this family the condition with reduced penetrance was showed. Discrepancy was found between the dimensions of the skull, face and chest deformity by shortening both clavicles in the total of those affected, which was the most striking clinical sign. Dysplasia of both clavicles and brachycephaly were the most common radiographic abnormalities.

REFERENCES

1. Mata Zubillaga D, de la Peña López AS. Disostosis cleidocraneal. Revisión de once casos en cinco generaciones. Anal Pediatr. 2008; 69(2).

2. Parrella RE, Di Gregorio F. Cleidocranial dysostosis. Recent Prog Med. 2009; 84(6):428-31.

3. Onishi H, Yamashita J, Enkaku F, Fuisawa H. Anomalous origin of the anterior cerebral artery and congenital skull dysplasia. Case report. Neurol Med Chir Tokyo. 2010; 32(5):296-9.

4. Yoshida T, Kanegane H, Osato M, Yanagida M, Miyawaki T, Ito Y. Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations. Am J Hum Genet. 2012;771:724-38.

5. Quack I, Vonderstrass B, Stock M, Ayisworth AS, Becker A. Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. Am J Hum Genet. 2009; 65:1268-78.

6. Korniszewski L. Cleidocranial dysplasia in a Polish population: high frequency of the R193X mutation. Clin Genet.2006; 70:167-9.

7. Zhang YW, Bae SC, Takahashi E, Ito Y. The cDNA cloning of the transcripts of human PEBP2aA/CBFA1 mapped to 6p12.3-p21.1, the locus for cleidocranial dysplasia. Oncogene.2007; 15:367-71.

8. Yohko F, Morio T, Yoshiyasu F, Yasunori T, Enkaku F, Fuisawa H. Histological and analytical studies of a tooth in patient with cleidocranial dysostosis. J Oral Sci. 2011; 43(2):85-89.

9. Laredo Filho J, Carneiro Filho M, Rangel JPA, Carrasco MJM. Hereditary cleidocranial dysostosis: clinical, radiological and genetic aspects. Folhia Med. 2009; 95(3):161-8.

10. Namara CM, O’Riordan BC, Blake M, Sandy JR. Cleidocranial Dysplasia: Radiological Appearances on Dental Panoramic Radiography. Dentomaxillofac Radiol. 2012; 28:89-97.

11. Sánchez Manduley C. Disostosis cleidocraneal. Estudio clínico, radiográfico y genético de una familia. Rev Cubana Med. 1999[citado 13 dic 2012]; 38(2).

12. Yamachika E, Tsujigiwa H. Identification of a Stop codon mutation in the CBFA1 runt dominian from a patient with cleido craneal dysplasia and cleft lip. J Oral Pathol Med. 2011; 30:381-383.

13. Monet Y. Enfermedades Genéticas que Afectan la Cavidad Bucal. Act Odontol Venezolana. 2004; 42(1):1-5.

14. Arocha Rodríguez R, Vázquez Cruz CM, Vázquez Cruz A, Cruz Segundo R. Disostosis cleidocraneal. Estudio familiar. Rev Cubana Med. 2002[citado 13 dic 2012]; 41(3):178-84.

15. Golan I, Baumert U. Dentomaxillofacial Variability of Cleidocraneal dysplasia: clinicoradiological presentation and systematic review. Dentomaxillofac Radiol. 2009; 32:347-354.

16. Golan I, Baumert U. Radiological Findings and Molecular Genetic Confirmation of Cleidocranial Dysplasia. Clin Radiol.2008; 57(6):525-529.

17. Tanaka JL, Ono E, Filho EM, Castilho JC, Moraes LC, Moraes ME. Cleidocranial dysplasia: importance of radiographic images in diagnosis of the condition. J Oral Sci.2006; 48(3):161-166.