Resumo

LIMA RODRIGUEZ, Ulises D.; HERNANDEZ RODRIGUEZ, Antonio Raunel; PEREZ ESPINOSA, Lina Marta  e  ALBERRO FERNANDEZ, Marianela. Type II osteogenesis imperfecta: A case report. Rev Cubana Ortop Traumatol [online]. 1999, vol.13, n.1-2, pp. 115-118. ISSN 1561-3100.

The case of a still birth with deformities in the lower limbs, whose mother was 32 years old, is presented. The following anomalies were detected by the study and clinical description of the external habit: Skull: wide fontanelle; Face: eyes with little deep orbits, blue sclerotics, depressed bridge of the nose and deformities of the lower limbs. Multiple fractures of the ribs (rosary-like image) and femur (accordeon image) were observed in the radiographic study. The clinical study of the parents was normal. It was made the diagnosis of a type II osteogenesis imperfecta probably caused by a fresh mutation in the hereditary material of one of the parents. The couple received multidisciplinary attention that included genetic counselling and they have decided not to have children for the time being.

Palavras-chave : OSTEOGENESIS IMPERFECTA [genetics]; ABNORMALITIES, MULTIPLE; OSTEOGENESIS IMPERFECTA [diagnosis]; FETAL DEATH.

        · resumo em Espanhol | Francês     · texto em Espanhol     · Espanhol ( pdf )