Castiñeyra G, Panal M, Lopez Presas H, Goldschmidt E, Sánchez J M
Fundación de Genética Humana, Buenos Aires, Argentina.
J Med Genet. 1992 Jun;29(6):434-6. doi: 10.1136/jmg.29.6.434.
A girl with Wiedemann-Rautenstrauch syndrome was born to a non-consanguineous couple. During the pregnancy, growth retardation particularly in the biparietal and abdominal diameters but not the femoral length was detected through serial ultrasound scans. When the woman became pregnant again, in spite of having been assessed as having a 25% risk of recurrence, the prenatal findings seen in her previous pregnancy led us to suggest sequential echography and a similar pattern of growth retardation was shown. After termination, the male fetus was found to be affected by Wiedemann-Rautenstrauch syndrome. This case shows that ultrasound examination can be a useful tool in the prenatal diagnosis of this rare, autosomal recessive syndrome.
一名患有维德曼-劳滕施特劳赫综合征的女孩出生于一对非近亲结婚的夫妇。孕期通过系列超声扫描发现胎儿生长迟缓，尤其是双顶径和腹径，但股骨长度未受影响。该妇女再次怀孕时，尽管评估其复发风险为25%，但前次妊娠时的产前检查结果让我们建议进行连续超声检查，结果显示出类似的生长迟缓模式。终止妊娠后，发现男性胎儿患有维德曼-劳滕施特劳赫综合征。该病例表明，超声检查在这种罕见的常染色体隐性综合征的产前诊断中可能是一种有用的工具。
