Recurrence of a severe multiple congenital anomaly syndrome characterized by micrognathia, microtia, cleft palate, and short neck in two siblings

We report two female siblings, with the same spectrum of anomalies mainly affecting the head and neck. The only relevant event in the family history is the early death of the proband's brother because of multiple malformations of unknown cause. Repeated ultrasound scans in the pregnancies revealed anotia and severe micrognathia, and both were terminated at the 21st and 22nd weeks of gestation, respectively. In the first fetus, a cystic hygroma had been detected in the first trimester. On detailed examination both siblings had anotia, facial dysmorphism, a short neck, lung-anomalies, and pancreatic anomalies. We were unable to find any reports of similar cases and all the investigations performed revealed no underlying cause suggesting that this may represent a new spectrum of anomalies.