Abstract

RAMOS MEJIA, Rosario; RODRIGUEZ CELIN, Mercedes  and  FANO, Virginia. Clinical, radiological, and auxological characteristics of patients with cleidocranial dysplasia followed in a pediatric referral hospital in Argentina. Arch. argent. pediatr. [online]. 2018, vol.116, n.4, pp.e560-e566. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2018.e560.

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 (-3.26 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 : Cleidocranial dysplasia; Growth; Clavicle; Cranial fontanelles.

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