Bub I, Dekker P, Gericke G S
S Afr Med J. 1984 Sep 1;66(9):338-40.
The clinical features of a newborn female infant with reduction deformities of three limbs and no additional major malformations are presented. Diagnostic precision is crucial for accurate prognostication since both genetic and non-genetic causes have to be considered in such instances. The main differential diagnosis in our patient included a number of specific inherited disorders of which limb reduction is a component, as well as the consequences of both early amniotic rupture and fetal vascular disruption. We favoured the latter and concluded that the risk of recurrence was minimal. The approach to limb reduction disorders should be individualized.
本文介绍了一名患有三肢短小畸形且无其他重大畸形的新生女婴的临床特征。由于在此类病例中必须同时考虑遗传和非遗传因素，因此诊断的准确性对于准确预测预后至关重要。我们患者的主要鉴别诊断包括一些特定的遗传性疾病（肢体短小是其中的一个组成部分），以及早期羊膜破裂和胎儿血管中断的后果。我们倾向于后者，并得出复发风险极小的结论。对于肢体短小畸形的处理应个体化。
