Kim H J, Costales F, Bouzouki M, Wallach R C
Prenat Diagn. 1986 Mar-Apr;6(2):143-50. doi: 10.1002/pd.1970060210.
Fetal ultrasound evaluations at 18 weeks gestation on two consecutive pregnancies of a woman who previously gave birth to a stillborn female affected with dyssegmental dwarfism, resulted in accurate diagnoses of unaffected and affected fetuses. Marked disorganization of vertebral bodies and associated encephalocele found in two affected cases in this family are consistent with the original observation of this new syndrome as two major aspects which differentiate it from other forms of lethal dwarfism.
一名曾产下一名患有节段性侏儒症的死产女婴的女性，在其连续两次怀孕的妊娠18周时进行了胎儿超声评估，结果准确诊断出未受影响和受影响的胎儿。在这个家族的两例受影响病例中发现的椎体明显紊乱和相关的脑膨出，与这种新综合征的最初观察结果一致，这是将其与其他形式的致死性侏儒症区分开来的两个主要方面。
