Clinical, radiological, and auxological characteristics of patients with cleidocranial dysplasia followed in a pediatric referral hospital in Argentina
- 1 August 2018
- journal article
- research article
- Published by Sociedad Argentina de Pediatria in Archivos Argentinos de Pediatria
- Vol. 116 (4), E560-E566
- https://doi.org/10.5546/aap.2018.eng.e560
Abstract
Cleidocranial dysplasia is an autosomal dominant skeletal dysplasia caused by mutations in the RUNX2 gene; its prevalence has been estimated at 1/1 000 000 newborn infants. This study presents 37 patients (22 girls) assessed between 1992 and 2016 at the Skeletal Dysplasias Multidisciplinary Clinics of Hospital Garrahan, Argentina. Findings: 35% of positive family history; median age at the time of diagnosis: 2.61 years old; positive radiological findings in the skull and pubis: 95%; in the clavicles: 100%. Dental and hearing complications were common. Auxology: boys had a median height of -1.81 SD (-326 to 0.2)and girls had a median height of -1.36 SD (-4.28 to 1.36). Five out of 13 patients were short for parental height. Adult height (median): 162.8 cm in boys and 149.2 cm in girls. No evident alterations were observed in the sitting height/ height ratio. One patient had true macrocephaly; 12 (32%), relative macrocephaly. Intrafamily variability was described in terms of height.Keywords
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