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A family of Holt-Oram syndrome.
Jpn Heart J. 1975 Jul; 16(4):480-7.JH

Abstract

A family of Holt-Oram syndrome is reported. Twenty of 41 living members in the last 3 generations were examined. The propositus expressed typically the cardinal features of this syndrome: atrial septal defect, patent ductus arteriosus, cardiac arrhythmias and conduction block of various types, and hypoplasia of the left thumb. Two individuals were clinically diagnosed to have atrial septal defect without any upper limb anomaly, and 3 showed upper limb anomaly without any sign of congenital heart disease. Other 5 members showed only minor abnormalities, such as funnel chest or mild right ventricular hypertrophy on ECG and VCG. Some of the skeletal abnormalities observed were hitherto undescribed ones. These include generalized hypoplasia of left hand and downward displacement of right sterno-clavicular joint.

Authors

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Pub Type(s)

Journal Article

Language

eng

PubMed ID

1152300

Citation

Ito, M, et al. "A Family of Holt-Oram Syndrome." Japanese Heart Journal, vol. 16, no. 4, 1975, pp. 480-7.
Ito M, Misawa T, Fujino M, et al. A family of Holt-Oram syndrome. Jpn Heart J. 1975;16(4):480-7.
Ito, M., Misawa, T., Fujino, M., Ito, S., & Fukumoto, T. (1975). A family of Holt-Oram syndrome. Japanese Heart Journal, 16(4), 480-7.
Ito M, et al. A Family of Holt-Oram Syndrome. Jpn Heart J. 1975;16(4):480-7. PubMed PMID: 1152300.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A family of Holt-Oram syndrome. AU - Ito,M, AU - Misawa,T, AU - Fujino,M, AU - Ito,S, AU - Fukumoto,T, PY - 1975/7/1/pubmed PY - 1975/7/1/medline PY - 1975/7/1/entrez SP - 480 EP - 7 JF - Japanese heart journal JO - Jpn Heart J VL - 16 IS - 4 N2 - A family of Holt-Oram syndrome is reported. Twenty of 41 living members in the last 3 generations were examined. The propositus expressed typically the cardinal features of this syndrome: atrial septal defect, patent ductus arteriosus, cardiac arrhythmias and conduction block of various types, and hypoplasia of the left thumb. Two individuals were clinically diagnosed to have atrial septal defect without any upper limb anomaly, and 3 showed upper limb anomaly without any sign of congenital heart disease. Other 5 members showed only minor abnormalities, such as funnel chest or mild right ventricular hypertrophy on ECG and VCG. Some of the skeletal abnormalities observed were hitherto undescribed ones. These include generalized hypoplasia of left hand and downward displacement of right sterno-clavicular joint. SN - 0021-4868 UR - https://www.unboundmedicine.com/medline/citation/1152300/A_family_of_Holt_Oram_syndrome_ L2 - http://www.diseaseinfosearch.org/result/3457 DB - PRIME DP - Unbound Medicine ER -