OBJECTIVE To compare the phase angle of patients with osteogenesis imperfecta treated at a tertiary university hospital with patients in a control group of healthy children, and to assess the nutritional status of these patients through the body mass index proposed by the World Health Organization. METHODS Cross-sectional study carried out in a university hospital that included seven patients...

Objetivo: Comprender a la osteogénesis imperfecta través de una revisión detallada estudios académicos, para establecer directrices en atención primaria y visibilizar sus aspectos genéticos el contexto del sistema salud ecuatoriano. Método: La presente está basada selección revisiones Osteogénesis Imperfecta guía práctica clínica 2014 MSP Ecuador manejo OI. Resultados conclusiones: relación gen...

amelogenesis imperfecta is a group of genetic disorders that affects both the morphology and quality of tooth structure. although the disease entity is primarily associated with abnormalities of dental and oral structures, it has been reported to be associated with a few syndromes. a 9-year-old girl with minor thalassemia referred to the department of pediatric dentistry of the mashhad faculty ...

Recurrent lethal perinatal osteogenesis imperfecta may result from asymptomatic parental mosaicism. A previously unreported mutation in COL1A2 leads to recurrent cases of fetal osteogenesis imperfecta Sillence type IIA, which emphasizes the importance of clinical and genetic evaluation of mosaicism in asymptomatic parents as verified mosaicism highly increases recurrence risk.

Achondroplasia, Duchenne muscular dystrophy, and osteogenesis imperfecta are among the most frequent rare genetic disorders affecting the musculoskeletal system in children. Rare genetic disorders are severely disabling and can have substantial impacts on families, children, and on healthcare systems. This literature review aims to classify, summarize and compare these non-medical impacts of ac...

Using two restriction site polymorphisms within the structural gene coding for human type II collagen we have examined the segregation of this gene in three pedigrees with dominantly inherited osteogenesis imperfecta (Sillence type IA). We have demonstrated that the gene does not segregate with clinical expression of the disease and cannot, therefore, contain the mutation responsible for osteog...

The response to the bisphosphonate, pamidronate, is reported in a child with osteogenesis imperfecta who had recurrent symptomatic hypercalcaemia after immobilisation following fractures. Oral clodronate was effective in the prevention of immobilisation hypercalcaemia in the same child. The bisphosphonates may have other roles in osteogenesis imperfecta by decreasing bone turnover.

Abnormalities of tooth shape and size generally coexist, as both are determined during the morphodifferentiation stage of odontogenesis. This report describes a case of lobodontia exhibiting multiple dental anomalies of which, "fang like" cuspids, multituberculism of molars, hypodontia along with severe generalized microdontia are distinctive. Radiographic features, diagnostic convolutions, dif...