Association of atrial-ventricular septal defect, blepharophimosis, anal and radial defects in sibs: a new syndrome?
Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
R S
RS
Houlston
R
R
Ironton
I K
IK
Temple
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D001006:Anus, Imperforate / Q000175:diagnosis / Q000235:genetics*; D016569:Blepharophimosis / Q000175:diagnosis / Q000235:genetics*; D004480:Ectromelia / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000175:diagnosis / Q000235:genetics*; D006345:Heart Septal Defects, Ventricular / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome