Có sự thay đổi lớn trong biểu hiện lâm sàng, với các trẻ em khác nhau có sự kết hợp khác nhau của các bất thường liên quan. Tên hiệp hội dị tật được công nhận thường là từ viết tắt của các thành phần bất thường. | ABC of Clinical Genetics There is great variation in clinical presentation with different children having different combinations of the related abnormalities. The names given to recognised malformation associations are often acronyms of the component abnormalities. Hence the Vater association consists of vertebral anomalies anal atresia tracheo-oe sophageal fistula and r adial defects. The acronym vacterl has been suggested to encompass the additional c ardiac renal and limb defects of this association. Murcs association is the name given to the non-random occurrence of Mullerian duct aplasia r enal aplasia and cervicothoracic somite dysplasia. In the Charge association the related abnormalities include colobomas of the eye heart defects choanal atresia mental retardation growth retardation and ear anomalies. Complexes The term developmental field complex has been used to describe abnormalities that occur in adjacent or related structures from defects that affect a particular geographical part of the developing embryo. The underlying aetiology may represent a vascular event resulting in the defects such as those seen in hemifacial microsomia Goldenhar syndrome Poland anomaly and some cases of Mobius syndrome. Identification of syndromes Recognition of multiple malformation syndromes is important to answer the questions that parents of all babies with congenital malformations ask namely What is it Why did it happen What does it mean for the child s future Will it happen again Parents often experience feelings of guilt after the birth of an abnormal child and time spent discussing what is known about the aetiology of the abnormalities may help to alleviate some of their fears. They also need an explanation of what to expect in terms of treatment anticipated complications and long term outlook. Accurate assessment of the risk of recurrence cannot be made without a diagnosis and the availability of prenatal diagnosis in subsequent pregnancies will depend on whether .
