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[Report of a family with Holt-Oram syndrome (author's transl)].
Z Kardiol. 1979 Mar; 68(3):173-5.ZK

Abstract

Report of a family where the typical symptomatology of Holt-Oram syndrome can be documented over three generations. Holt-Oram syndrome is an autosomal-dominantly inherited disease, characterized by cardiac malformation, mainly septal defects, av-conduction disturbances, malformations of the upper limbs, mainly the radial ray and sometimes by vascular hypoplasia. According to the literature, these symptoms can be seen in variable expressivity in the family reported. Differential diagnosis of the entity and genetic counsel of symptomatic patients and their normal relatives are discussed.

Authors

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Pub Type(s)

English Abstract
Journal Article

Language

ger

PubMed ID

442759

Citation

Gaul, G, et al. "[Report of a Family With Holt-Oram Syndrome (author's Transl)]." Zeitschrift Fur Kardiologie, vol. 68, no. 3, 1979, pp. 173-5.
Gaul G, Titscher G, Brand O, et al. [Report of a family with Holt-Oram syndrome (author's transl)]. Z Kardiol. 1979;68(3):173-5.
Gaul, G., Titscher, G., Brand, O., & Heeger, H. (1979). [Report of a family with Holt-Oram syndrome (author's transl)]. Zeitschrift Fur Kardiologie, 68(3), 173-5.
Gaul G, et al. [Report of a Family With Holt-Oram Syndrome (author's Transl)]. Z Kardiol. 1979;68(3):173-5. PubMed PMID: 442759.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Report of a family with Holt-Oram syndrome (author's transl)]. AU - Gaul,G, AU - Titscher,G, AU - Brand,O, AU - Heeger,H, PY - 1979/3/1/pubmed PY - 1979/3/1/medline PY - 1979/3/1/entrez SP - 173 EP - 5 JF - Zeitschrift fur Kardiologie JO - Z Kardiol VL - 68 IS - 3 N2 - Report of a family where the typical symptomatology of Holt-Oram syndrome can be documented over three generations. Holt-Oram syndrome is an autosomal-dominantly inherited disease, characterized by cardiac malformation, mainly septal defects, av-conduction disturbances, malformations of the upper limbs, mainly the radial ray and sometimes by vascular hypoplasia. According to the literature, these symptoms can be seen in variable expressivity in the family reported. Differential diagnosis of the entity and genetic counsel of symptomatic patients and their normal relatives are discussed. SN - 0300-5860 UR - https://www.unboundmedicine.com/medline/citation/442759/[Report_of_a_family_with_Holt_Oram_syndrome__author's_transl_]_ L2 - http://www.diseaseinfosearch.org/result/3457 DB - PRIME DP - Unbound Medicine ER -