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Familial multiple ventricular extrasystoles, short stature, craniofacial abnormalities and digital hypoplasia: a further case of Stoll syndrome?

Familial multiple ventricular extrasystoles, short stature, craniofacial abnormalities and digital hypoplasia: a further case of Stoll syndrome?
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
craniofacial abnormalities, adult, abnormalities, diagnosis, body height, ventricular premature complexes, finger phalanges, joints, adolescent, radiography, genetics, facies, phenotype, history, report, pedigree, male, family, child, syndrome, fingers, pathology, multiple, micrognathism, physiopathology, patients, congenital, humans, female
0962-8827
91-93
Mercer, C.L.
1368ac79-188a-4b3a-9a9b-356ef3b30983
Keeton, B.
778e4304-5297-40ab-b785-5325e3321be1
Dennis, N.R.
154aa617-52e2-4711-98ef-89fef8610de7
Mercer, C.L.
1368ac79-188a-4b3a-9a9b-356ef3b30983
Keeton, B.
778e4304-5297-40ab-b785-5325e3321be1
Dennis, N.R.
154aa617-52e2-4711-98ef-89fef8610de7

Mercer, C.L., Keeton, B. and Dennis, N.R. (2008) Familial multiple ventricular extrasystoles, short stature, craniofacial abnormalities and digital hypoplasia: a further case of Stoll syndrome? Clinical Dysmorphology, 17 (2), 91-93.

Record type: Article

Abstract

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

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More information

Published date: 2008
Keywords: craniofacial abnormalities, adult, abnormalities, diagnosis, body height, ventricular premature complexes, finger phalanges, joints, adolescent, radiography, genetics, facies, phenotype, history, report, pedigree, male, family, child, syndrome, fingers, pathology, multiple, micrognathism, physiopathology, patients, congenital, humans, female

Identifiers

Local EPrints ID: 60050
URI: http://eprints.soton.ac.uk/id/eprint/60050
ISSN: 0962-8827
PURE UUID: b3a91208-d747-4468-8ba0-9678abd110be

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Date deposited: 10 Sep 2008
Last modified: 08 Jan 2022 10:06

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Contributors

Author: C.L. Mercer
Author: B. Keeton
Author: N.R. Dennis

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