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Familial multiple ventricular extrasystoles, short stature, craniofacial abnormalities and digital hypoplasia: a further case of Stoll syndrome?
Clin Dysmorphol. 2008 Apr; 17(2):91-3.CD

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.

Authors+Show Affiliations

Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK. catherine.mercer@suht.swest.nhs.ukNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

18388777

Citation

Mercer, Catherine L., et al. "Familial Multiple Ventricular Extrasystoles, Short Stature, Craniofacial Abnormalities and Digital Hypoplasia: a Further Case of Stoll Syndrome?" Clinical Dysmorphology, vol. 17, no. 2, 2008, pp. 91-3.
Mercer CL, Keeton B, Dennis NR. Familial multiple ventricular extrasystoles, short stature, craniofacial abnormalities and digital hypoplasia: a further case of Stoll syndrome? Clin Dysmorphol. 2008;17(2):91-3.
Mercer, C. L., Keeton, B., & 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), 91-3. https://doi.org/10.1097/MCD.0b013e3282efefc9
Mercer CL, Keeton B, Dennis NR. Familial Multiple Ventricular Extrasystoles, Short Stature, Craniofacial Abnormalities and Digital Hypoplasia: a Further Case of Stoll Syndrome. Clin Dysmorphol. 2008;17(2):91-3. PubMed PMID: 18388777.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Familial multiple ventricular extrasystoles, short stature, craniofacial abnormalities and digital hypoplasia: a further case of Stoll syndrome? AU - Mercer,Catherine L, AU - Keeton,Barry, AU - Dennis,Nicolas R, PY - 2008/4/5/pubmed PY - 2008/5/28/medline PY - 2008/4/5/entrez SP - 91 EP - 3 JF - Clinical dysmorphology JO - Clin. Dysmorphol. VL - 17 IS - 2 N2 - 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. SN - 0962-8827 UR - https://www.unboundmedicine.com/medline/citation/18388777/Familial_multiple_ventricular_extrasystoles_short_stature_craniofacial_abnormalities_and_digital_hypoplasia:_a_further_case_of_Stoll_syndrome L2 - https://doi.org/10.1097/MCD.0b013e3282efefc9 DB - PRIME DP - Unbound Medicine ER -