Familial multiple ventricular extrasystoles, short stature, craniofacial abnormalities and digital hypoplasia: a further case of Stoll syndrome?
We report two brothers, their mother and a maternal cousin who had a distinctive facial phenotype, mild brachydactyly and prominence of the interphalangeal joints. One brother and the mother also had multiple ventricular extrasystoles. Six other relatives in four generations were probably affected on the basis of history and family photographs. We also report a further individual from a different family with a similar facial phenotype, Pierre-Robin sequence, tapering fingers and multiple ventricular extrasystoles. These families have some similarities to those reported by Stoll et al. in a single family, showing dominant inheritance. Our patients would seem to have the same or a related condition.
Mercer
Catherine L
CL
Wessex Clinical Genetics Service, Princess Anne Hospital Department of Paediatric Cardiology, Wessex Cardiothoracic Centre, Southampton General Hospital, Southampton, UK.
Keeton
Barry
B
Dennis
Nicolas R
NR
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D001827:Body Height; D002648:Child; D019465:Craniofacial Abnormalities / Q000473:pathology*; D019066:Facies; D005260:Female; D050278:Finger Phalanges / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D008844:Micrognathism / Q000473:pathology; D010375:Pedigree; D011859:Radiography; D013577:Syndrome; D018879:Ventricular Premature Complexes / Q000151:congenital* / Q000503:physiopathology