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VATER syndrome : ウィキペディア英語版
VACTERL association

The VACTERL association (also VATER association) refers to the non-random co-occurrence of birth defects Vertebral anomalies, Anal atresia, Cardiac defects, Tracheoesophageal fistula and/or Esophageal atresia, Renal & Radial anomalies and Limb defects. The reason it is called an association, rather than a syndrome, is that while the complications are not pathogenically related they tend to occur together more frequently than expected by chance. In general, the etiology of "associations" is not defined.
Each child with this condition can be unique. At present this condition is treated after birth with issues being approached one at a time. Some infants are born with symptoms that cannot be fixed and they do not survive. Causes of this association are debated, though it appears to be genetic according to certain studies. Also, VACTERL association can be linked to other similar conditions such as Klippel Feil and Goldenhar Syndrome including crossovers of conditions.
No specific genetic or chromosome problem has been identified with VACTERL association. VACTERL can be seen with some chromosomal defects such as Trisomy 18 and is more frequently seen in babies of diabetic mothers. VACTERL association, however, is most likely caused by multiple factors.
VACTERL association specifically refers to the abnormalities in structures derived from the embryonic mesoderm.
== History ==
The acronym ''VATER'' association was first described by Linda Quan, an emergency room physician and David Smith, a man who was considered the father of dysmorphology in 1972 to define a non-random co-occurrence of the listed defects. Years later, research revealed that cardiac and renal abnormalities were common in the association, and the acronym was changed to ''VACTERL''. The differentiation of the acronyms VACTERL and VATER is due to the variation in defects determined at or prior to birth. VACTERL contains vertebral, anal, cardiac, trachea-esophogeal, renal/kidney, and limb defects where as VATER only has vertebral, anal, trachea-esophogeal, and renal defects. The "R" in VATER represented radial dysplasia. Though the differences are clear, the visual and physical defects vary from case to case.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
ウィキペディアで「VACTERL association」の詳細全文を読む



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