无手无足畸形：关于四名巴西新病例的报告。
Acheiropodia: report on four new Brazilian patients.
作者信息
Fett-Conte A C, Richieri-Costa A
机构信息
Departamento de Biologia, UNESP, São José do Rio Preto, SP, Brazil.
出版信息
Am J Med Genet. 1990 Jul;36(3):341-4. doi: 10.1002/ajmg.1320360320.
PMID:2363435
Abstract
We report on 4 new patients with acheiropodia ("the handless and footless families of Brazil"). This autosomal recessive condition involves all 4 limbs with a well-defined pattern of defects. Two of the patients described here had a small bone fragment in the upper stumps (Bohomoletz bone), an uncommon finding in acheiropodia.
摘要
我们报告了4例无手足畸形患者（“巴西的无手无脚家族”）。这种常染色体隐性疾病累及四肢，具有明确的缺陷模式。此处描述的两名患者在上臂残端有一小块骨碎片（博霍莫列茨骨），这在无手足畸形中是不常见的发现。
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