Introduction To Congenital Craniofacial And Musculoskeletal Malformations

Congenital anomalies can be classified as deformities or malformations.

Craniofacial and musculoskeletal malformations are common in children. You may comprise only a single, specific location (eg. As cleft lip, cleft palate, club foot) or part of a syndrome of multiple congenital anomalies (e. B. velokardiofaziales syndrome, Treacher Collins syndrome). A careful clinical evaluation may be necessary to distinguish an isolated anomaly of an atypical or slightly manifested syndrome. Congenital anomalies can be classified as deformities or malformations. Deformation is a deformation due to an abnormal pressure and / or positioning in utero during late pregnancy. Deformations are at about 2% of births; some resolve spontaneously within a few days, but others require treatment. A malformation is a bug in the normal organ or tissue development. The causes include chromosomal abnormalities, defects in single genes, teratogenic agents or a combination of genetic and environmental factors; a decreasing number of cases is idiopathic. Congenital malformations are all births at about 3 to 5%. A clinical geneticist should evaluate affected patients to make a definitive diagnosis, which is critical to the formulation of an optimal treatment plan, providing a forward-looking and genetic counseling and the identification of relatives at risk for similar anomalies.

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