Miltényi M, Czeizel A E, Balogh L, Detre Z
Department of Pediatrics, Semmelweis Medical University, Budapest, Hungary.
Am J Med Genet. 1992 Jul 15;43(5):789-90. doi: 10.1002/ajmg.1320430506.
We describe two sibs with tetraectrodactyly and oligomeganephronic renal hypoplasia. The parents were unaffected. This syndrome of apparently autosomal recessive origin appears to be the first Mendelian form of the acrorenal developmental field defect identified so far.
我们描述了两名患有四肢缺指（趾）畸形和少肾小球肾发育不全的同胞。其父母未受影响。这种明显源于常染色体隐性遗传的综合征似乎是迄今发现的首例孟德尔式肢肾发育场缺陷形式。
