Osteogenesis imperfect: clinical and epidemiological findings in a series of pediatric patients.
Background
Osteogenesis imperfecta (OI) is the most common hereditary bone disorder with an incidence of one in 10,000-25,000 births. It is caused mainly by mutations in the genes that code for Type I collagen chains. In most cases, it shows an autosomal dominant inheritance pattern. OI is characterized by an increase in bone fragility that leads to frequent fractures, which cause pain, deformity and disability associated with other alterations. The objective of this study was to present the clinical and epidemiological characteristics of a series of pediatric patients diagnosed with OI evaluated at the University of Los Andes.


Methods
A series of 37 pediatric cases with diagnosis of OI according to the clinical and radiological classification of sillence is analyzed, which were evaluated in the medical genetics unit of the University of Los Andes consultation between January 2006 and December 2018.


Results
Type I was the most frequent OI type, with 31 patients (83.78%). Additionally, the femur was the most affected bone. Blue scleras were the most frequent additional finding in 32 patients (86.49%).


Conclusions
OI represents the main reason for consultation of alterations in the skeletal system in the medical genetics unit of the University of Los Andes. Given the broad clinical presentation, the evaluation must be individual and interdisciplinary. Further study will provide timely family genetic counseling.
['Cammarata-Scalisi|Francisco|F|', 'Ramos-Urrea|Carlos|C|', 'Da Silva|Gloria|G|']
D000293:Adolescent D002648:Child D002675:Child, Preschool D005260:Female D005264:Femoral Fractures D050723:Fractures, Bone D006801:Humans D007223:Infant D007231:Infant, Newborn D008297:Male D010013:Osteogenesis Imperfecta D010375:Pedigree D011885:Radius Fractures D014687:Venezuela
Epidemiology Osteogenesis imperfecta Type I collagen Clasificación de Sillence Clinical study Colágeno tipo I Epidemiología Estudio clínico Osteogénesis imperfecta Sillence classification