Piana RA

Language: Spanish
References: 10
Page: 5-9
PDF size: 99.18 Kb.

ABSTRACT

Skeletal dysplasias are pathologies that present a generalized alteration of bone tissue and constitute one of the first causes of growth retard. Until recent times, the precise diagnosis of a skeletal dysplasia was only perinatal through clinics, biochemistry and radiology. The upcoming of Molecular Biology techniques has allowed the prenatal diagnosis of many of them allowing the adoption of measures and the correspondent genetic counseling. Some skeletal dysplasias are so severe that can be detected by ultrasound before birth. There are hundreds of skeletal dysplasias, many of them rare. Acondroplasy is the most common of them. Due to the prognosis and genetic implications, it is important that the primary physician, genetist and radiologist work together as an interdisciplinary team. There is few experience in the medical treatment for skeletal dysplasias without long term results.

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