Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.
Editor—In 1987, Machin et al 1 reported a case of laryngeal atresia in association with an asymmetrical parietal encephalocele and limbs anomalies. Other anomalies included a horseshoe kidney and immature, low set ears. We now report a similar case and discuss possible aetiologies and the differential diagnosis.
This was the second pregnancy of a non-consanguineous, healthy couple with an unremarkable family history; the mother was 26 years old. Ultrasonoraphic findings at 23 weeks' gestation were gross fetal ascites and enlarged echogenic lungs subsequently found to be the result of laryngeal atresia (fig 1). There was a large facial cleft with an anterior encephalocele involving the left orbit (fig 1). There were also flexion deformities at the wrists and hips suggesting bilateral radial and tibial aplasia, respectively (fig 1). In view of the serious nature of the anomalies, the parents requested a termination of the pregnancy. Asystole was induced by intracardiac injection of potassium chloride and labour was induced. Analysis of fetal blood showed a normal karyotype (46,XX).
The fetus weighed 615 g and was hydropic (fig 1). A detailed necropsy …