Martínez-Frías M L, Urioste M
Departamento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Am J Med Genet. 1994 Jan 1;49(1):36-44. doi: 10.1002/ajmg.1320490109.
Opitz has defined developmental field defects (DFD) as "any dysmorphogenetically reactive unit of the developing organism that leads to final structure." We have incorporated in our coding system specific codes to identify individual DFDs in each child, irrespective of the cause or type of the MCA pattern (i.e., chromosomal, mendelian, environmental, or unknown). Using this approach, we can analyze the group of defects included in the expression of each DFD as a discrete unit. To confirm our hypothesis that vertebral and rib anomalies constitute a DFD, we have studied all of our cases with segmentation anomalies of the spine and ribs, including hemivertebrae, fused or absent vertebrae, and "crab-like" thorax, all of which fall into the loosely defined groups of spondylothoracic dysplasia, costovertebral dysplasia, Jarcho-Levin syndrome, and others. The study was performed using the 18,743 malformed children from the ECEMC data files, 110 of them having vertebral/rib anomalies.
奥皮茨将发育场缺陷（DFD）定义为“发育中生物体的任何导致最终结构的形态发生反应性单位”。我们在编码系统中纳入了特定编码，以识别每个儿童的个体DFD，而不考虑MCA模式的原因或类型（即染色体、孟德尔、环境或未知）。使用这种方法，我们可以将每个DFD表达中包含的缺陷组作为一个离散单位进行分析。为了证实我们关于椎体和肋骨异常构成一个DFD的假设，我们研究了所有脊柱和肋骨节段异常的病例，包括半椎体、融合或缺失的椎体以及“蟹样”胸廓，所有这些都属于脊柱胸廓发育不良、肋椎发育不良、贾乔-列文综合征等定义宽泛的组。该研究使用了欧洲先天性畸形监测中心（ECEMC）数据文件中的18743名畸形儿童，其中110名有椎体/肋骨异常。
