Martínez-Frías M L, Bermejo E, Frías J L
Departamento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Am J Med Genet. 2000 Jan 31;90(3):246-9.
We studied a series of 27,145 consecutive infants with congenital defects and classified them into the currently recognized pathogenetic types of errors of morphogenesis, as defined by the International Working Group [Spranger et al., 1982: J Pediatrics 1:160-165]. Of all infants with congenital defects, 97.94% had malformations, 3.92% deformations, and 1.65% disruptions. Malformations associated with deformations were present in 3.12% of children with congenital anomalies, malformations with disruptions in 0.18%, deformations with disruptions in 0.07%, and malformations with deformations and disruptions in 0.14%. While deformations, including deformation sequences, were 2.38 times more common than disruptions and disruption sequences, isolated disruptions (1.27%) were more frequent than isolated deformations (0.59%). Knowledge of the frequencies of the different types of errors of morphogenesis (malformations, deformations, disruptions, developmental field defects, associations, complexes, unrecognized patterns of multiple congenital anomaly, and syndromes) may be of great value in the evaluation of patients with congenital anomalies.
我们研究了连续的27145例患有先天性缺陷的婴儿，并根据国际工作组的定义[施普朗格等人，1982年：《儿科学杂志》1:160 - 165]，将他们分类为目前公认的形态发生错误的致病类型。在所有患有先天性缺陷的婴儿中，97.94%有畸形，3.92%有变形，1.65%有破坏。伴有变形的畸形出现在3.12%的先天性异常儿童中，伴有破坏的畸形在0.18%，伴有破坏的变形在0.07%，伴有变形和破坏的畸形在0.14%。虽然包括变形序列在内的变形比破坏和破坏序列常见2.38倍，但孤立的破坏（1.27%）比孤立的变形（0.59%）更常见。了解不同类型的形态发生错误（畸形、变形、破坏、发育场缺陷、关联、复合体、未识别的多发先天性异常模式和综合征）的发生率，对于评估先天性异常患者可能具有重要价值。
