Midline raphé, sternal cleft, and other midline abnormalities: a new dominant syndrome?
Sternal fusion defects are malformations that often present as an isolated finding. An association with multiple malformations has been reported, in particular with midline raphe 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 raphe 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 previously described condition, and we propose they represent a new syndrome. This family is also important as it points to a possible genetic cause for at least some cases of this disorder of the ventral midline.
Forzano
Francesca
F
Clinical Genetics Unit, Great Ormond Street Hospital, London, United Kingdom.
Daubeney
Piers E F
PE
White
Susan M
SM
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D019465:Craniofacial Abnormalities / Q000473:pathology; D005192:Family Health; D005260:Female; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013249:Sternum / Q000002:abnormalities*; D013577:Syndrome; D014599:Uterus / Q000002:abnormalities