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[The Holt-Oram syndrome. Entelechy or clinical entity? A mild form of familial presentation].
Rev Esp Cardiol. 1993 Jun; 46(6):385-8.RE

Abstract

According to the description made by Holt and Oram in 1960, a wide group of associated skeletal and cardiac malformations was named as syndrome of Holt-Oram. The morpho-anatomic and functional expression of the syndrome are so great in extension, that it is possible to think of several clinical entities with common manifestations; or perhaps, in a common entity with different clinical and functional expressions. Undoubtedly, the interest in the knowledge and diagnostic of the disease is due mainly to the hereditary condition, as demonstrated in a great number of cases, though they had been observed some generations without antecedents, with the possible explanation of genetic mutation. In this paper, are demonstrated the descriptive findings in a patient, male, 32 years old, with the diagnostic of Holt-Oram syndrome, and also the results of the study of the near members of his family. This study allowed to find other affected persons with manifestations that probably can be the result of new mutations. The paper is completed with a wide review of the pertinent bibliography.

Authors+Show Affiliations

Seccion de Cardiología, Hospital Comarcal del Insalud Campo Arañuelo, Navalmoral de la Mata, Cáceres.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article
Review

Language

spa

PubMed ID

8316706

Citation

Palma Nieto, J C., et al. "[The Holt-Oram Syndrome. Entelechy or Clinical Entity? a Mild Form of Familial Presentation]." Revista Espanola De Cardiologia, vol. 46, no. 6, 1993, pp. 385-8.
Palma Nieto JC, Herráez García J, Sciaccaluga Morelli C, et al. [The Holt-Oram syndrome. Entelechy or clinical entity? A mild form of familial presentation]. Rev Esp Cardiol. 1993;46(6):385-8.
Palma Nieto, J. C., Herráez García, J., Sciaccaluga Morelli, C., & Briones García, J. L. (1993). [The Holt-Oram syndrome. Entelechy or clinical entity? A mild form of familial presentation]. Revista Espanola De Cardiologia, 46(6), 385-8.
Palma Nieto JC, et al. [The Holt-Oram Syndrome. Entelechy or Clinical Entity? a Mild Form of Familial Presentation]. Rev Esp Cardiol. 1993;46(6):385-8. PubMed PMID: 8316706.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [The Holt-Oram syndrome. Entelechy or clinical entity? A mild form of familial presentation]. AU - Palma Nieto,J C, AU - Herráez García,J, AU - Sciaccaluga Morelli,C, AU - Briones García,J L, PY - 1993/6/1/pubmed PY - 1993/6/1/medline PY - 1993/6/1/entrez SP - 385 EP - 8 JF - Revista espanola de cardiologia JO - Rev Esp Cardiol VL - 46 IS - 6 N2 - According to the description made by Holt and Oram in 1960, a wide group of associated skeletal and cardiac malformations was named as syndrome of Holt-Oram. The morpho-anatomic and functional expression of the syndrome are so great in extension, that it is possible to think of several clinical entities with common manifestations; or perhaps, in a common entity with different clinical and functional expressions. Undoubtedly, the interest in the knowledge and diagnostic of the disease is due mainly to the hereditary condition, as demonstrated in a great number of cases, though they had been observed some generations without antecedents, with the possible explanation of genetic mutation. In this paper, are demonstrated the descriptive findings in a patient, male, 32 years old, with the diagnostic of Holt-Oram syndrome, and also the results of the study of the near members of his family. This study allowed to find other affected persons with manifestations that probably can be the result of new mutations. The paper is completed with a wide review of the pertinent bibliography. SN - 0300-8932 UR - https://www.unboundmedicine.com/medline/citation/8316706/[The_Holt_Oram_syndrome__Entelechy_or_clinical_entity_A_mild_form_of_familial_presentation]_ L2 - http://www.diseaseinfosearch.org/result/3457 DB - PRIME DP - Unbound Medicine ER -