2017
DOI: 10.5546/aap.2017.e440
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Estudio clínico y molecular en una familia con displasia cleidocraneal

Abstract: Presentación de casos clínicos RESUMENLa displasia cleidocraneal es una displasia ósea infrecuente con patrón de herencia autosómico dominante, que se caracteriza por presentar talla baja, fontanelas amplias, hipoplasia mediofacial, ausencia o hipoplasia de clavículas y alteraciones orodentales. Es producida por mutaciones en el gen RUNX2 localizado en 6p21.1. Se presentan dos adolescentes masculinos (primos hermanos) con displasia cleidocraneal, los cuales mostraron mutación heterocigota, cambio de sentido (c… Show more

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Cited by 2 publications
(5 citation statements)
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“…66 full-text papers were assessed for eligibility before inclusion, of which 32 were excluded for different reasons. Finally, 34 manuscripts were included in the study, which were classified into 24 single case presentations [ [11] , [12] , [13] , [14] , [15] , [16] , [17] , [18] , [19] , [20] , [21] , [22] , [23] , [24] , [25] , [26] , [27] , [28] , [29] , [30] , [31] , [32] , [33] , [34] ] and 10 case series reports [ [35] , [36] , [37] , [38] , [39] , [40] , [41] , [42] , [43] , [44] ], representing 48 patients among a total of 72 cases included in this study ( Fig. 1 ).…”
Section: Resultsmentioning
confidence: 99%
“…66 full-text papers were assessed for eligibility before inclusion, of which 32 were excluded for different reasons. Finally, 34 manuscripts were included in the study, which were classified into 24 single case presentations [ [11] , [12] , [13] , [14] , [15] , [16] , [17] , [18] , [19] , [20] , [21] , [22] , [23] , [24] , [25] , [26] , [27] , [28] , [29] , [30] , [31] , [32] , [33] , [34] ] and 10 case series reports [ [35] , [36] , [37] , [38] , [39] , [40] , [41] , [42] , [43] , [44] ], representing 48 patients among a total of 72 cases included in this study ( Fig. 1 ).…”
Section: Resultsmentioning
confidence: 99%
“…En Venezuela, Callea et al (2017) describen dos adolescentes masculinos primos hermanos que presentan retardo en el cierre de fontanelas, macrocefalia, prominencia frontal, alteraciones dentales, ausencia de clavículas y, en uno de ellos, escoliosis, enfatizando la variabilidad intrafamiliar; el estudio molecular reportó mutación heterocigota, cambio de sentido (c.674G>A, p.R225Q) en el gen RUNX2. Asimismo, mencionan la asociación de esta mutación con leucemia mieloide aguda, presentada por la hermana del paciente.…”
Section: Discussionunclassified
“…Con este caso clínico, donde se reporta uno de los pacientes descritos por Callea et al (2017), se quiere enfatizar que a pesar de que las manifestaciones clínicas claves fueron observadas desde etapas tempranas, se tuvo diagnóstico clínico de displasia cleidocraneal en edad preescolar y fue evaluado por diversos especialistas, el paciente llega en la adolescencia a la consulta de nutrición, crecimiento y desarrollo infantil, probablemente a causa del entorno cultural y familiar del paciente, que habita en una zona rural.…”
Section: Discussionunclassified
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