Midline raphé, sternal cleft, and other midline abnormalities: A new dominant syndrome?

Abstract

Sternal fusion defects are malformations that often present as an isolated finding. An association with multiple malformations has been reported, in particular with midline raphé and craniofacial hemangiomas and as part of the pentalogy of Cantrell. Most syndromic cases were sporadic with a few families reported with recurrence in sibs. We describe a mother and two daughters with midline raphé and sternal defects. Affected members also had double central incisors, congenital heart defect, neck webbing, bicornuate uterus and minor anomalies including long face with hypotelorism. None of the three affected relatives had hemangiomas. The manifestations of these patients do not fit any previousl..