Clinical, radiological, and auxological characteristics of patients with cleidocranial dysplasia followed in a pediatric referral hospital in Argentina
| Autor: | Rosario Ramos Mejía, Virginia Fano, Mercedes Rodriguez Celin |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Adolescent Argentina Core Binding Factor Alpha 1 Subunit 03 medical and health sciences 0302 clinical medicine 030225 pediatrics Auxology Medicine Humans 030212 general & internal medicine Family history Child Hearing Disorders Retrospective Studies Cleidocranial Dysplasia business.industry Macrocephaly Infant Newborn Stomatognathic Diseases Infant medicine.disease Hospitals Pediatric Body Height Megalencephaly Skull medicine.anatomical_structure Clavicle Dysplasia Radiological weapon Child Preschool Pediatrics Perinatology and Child Health Mutation Female medicine.symptom business |
| Zdroj: | Archivos argentinos de pediatria. 116(4) |
| ISSN: | 1668-3501 |
| Popis: | 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.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.La displasia cleidocraneal es una displasia esquelética autosómica dominante causada por mutaciones en el gen RUNX2, con una prevalencia estimada de 1/1 000 000 de recién nacidos. Se presentan 37 pacientes (22 mujeres) evaluados entre 1992 y 2016 en las clínicas de displasias esqueléticas, Hospital Garrahan, Argentina. Hallazgos: 35% de antecedentes familiares positivos; edad mediana al momento del diagnóstico: 2,61 años; características radiológicas positivas en el cráneo y el pubis: 95%; en las clavículas: 100%. Las complicaciones dentales y auditivas fueron comunes. Auxología: mediana de estatura de -1,81 (-3,26-0,2) DE en los varones, -1,36 (-4,28-1,36) DE en las mujeres. Cinco de trece pacientes fueron bajos para la estatura parental. Estatura adulta (mediana): 162,8 cm y 149,2 cm en los varones y las mujeres. No fueron evidentes alteraciones en la proporción estatura sentada/estatura. Un paciente presentó macrocefalia real; 12 (32%), macrocefalia relativa. Se describe variabilidad intrafamiliar de estatura. |
| Databáze: | OpenAIRE |
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