Michaud J, Filiatrault D, Dallaire L, Lambert M
Department of Pediatrics, Hôpital Sainte-Justine, Université de Montréal, Québec, Canada.
Am J Med Genet. 1995 Mar 27;56(2):164-7. doi: 10.1002/ajmg.1320560210.
Amelia is a rare, usually sporadic malformation. We report on a family in which three fetuses had amelia of the upper limbs and variable deficiency of the lower limbs. The fetuses also had minor facial anomalies. Recurrence of the condition in sibs of both sexes suggests autosomal recessive inheritance. Recurrent amelia has been documented in only a few families most often associated with a different set of malformations. Possibly, mutations in more than one gene with different modes of transmission can lead to this severe limb deficiency. We speculate that the mutation found in our cases interferes with formation of the apical ectodermal ridge in the upper limbs and results in its premature degeneration in the lower limbs.
无肢畸形是一种罕见的、通常为散发性的畸形。我们报告了一个家族，其中有三个胎儿出现上肢无肢畸形以及不同程度的下肢缺陷。这些胎儿还存在轻微的面部异常。这种情况在不同性别的同胞中复发提示常染色体隐性遗传。仅在少数家族中记录到复发性无肢畸形，且大多与不同的一组畸形相关。可能，不止一个具有不同遗传模式的基因发生突变会导致这种严重的肢体缺陷。我们推测，在我们的病例中发现的突变干扰了上肢顶端外胚层嵴的形成，并导致下肢顶端外胚层嵴过早退化。
