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Pedigree analysis and descriptive investigation of three classic phenotypes associated with Holt-Oram syndrome.
J Reprod Med 2003; 48(3):153-9JR

Abstract

OBJECTIVE

To determine the frequency of sporadic and familial cases of three classic phenotypes associated with Holt-Oran syndrome (HOS).

STUDY DESIGN

We determined the frequency of sporadic and familial cases based on the 179 patients with HOS reported in the literature.

RESULTS

Clinically, there are three variations of HOS: affected individuals may have only skeletal anomalies (27.4%), only cardiac defects (3.9%) or both (68.7%). Of the 179 affected individuals, 17.3% had sporadic and 82.7% had familial disease.

CONCLUSION

The equal distribution between the sexes (female 53%, male 47%) indicates that HOS is transmitted as an autosomal dominant trait. In contrast to familial cases, cardiac involvement alone was not reported in any of the sporadic cases. When a cardiac malformation is diagnosed, the family members of the affected individual should be carefully screened for Holt-Oram syndrome.

Authors+Show Affiliations

Departments of Obstetrics and Gynecology and of Prenatal Diagnosis, University of Vienna, Vienna, Austria.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

12698771

Citation

Lehner, Rainer, et al. "Pedigree Analysis and Descriptive Investigation of Three Classic Phenotypes Associated With Holt-Oram Syndrome." The Journal of Reproductive Medicine, vol. 48, no. 3, 2003, pp. 153-9.
Lehner R, Goharkhay N, Tringler B, et al. Pedigree analysis and descriptive investigation of three classic phenotypes associated with Holt-Oram syndrome. J Reprod Med. 2003;48(3):153-9.
Lehner, R., Goharkhay, N., Tringler, B., Fasching, C., & Hengstschläger, M. (2003). Pedigree analysis and descriptive investigation of three classic phenotypes associated with Holt-Oram syndrome. The Journal of Reproductive Medicine, 48(3), pp. 153-9.
Lehner R, et al. Pedigree Analysis and Descriptive Investigation of Three Classic Phenotypes Associated With Holt-Oram Syndrome. J Reprod Med. 2003;48(3):153-9. PubMed PMID: 12698771.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pedigree analysis and descriptive investigation of three classic phenotypes associated with Holt-Oram syndrome. AU - Lehner,Rainer, AU - Goharkhay,Nima, AU - Tringler,Barbara, AU - Fasching,Claudia, AU - Hengstschläger,Markus, PY - 2003/4/18/pubmed PY - 2003/7/3/medline PY - 2003/4/18/entrez SP - 153 EP - 9 JF - The Journal of reproductive medicine JO - J Reprod Med VL - 48 IS - 3 N2 - OBJECTIVE: To determine the frequency of sporadic and familial cases of three classic phenotypes associated with Holt-Oran syndrome (HOS). STUDY DESIGN: We determined the frequency of sporadic and familial cases based on the 179 patients with HOS reported in the literature. RESULTS: Clinically, there are three variations of HOS: affected individuals may have only skeletal anomalies (27.4%), only cardiac defects (3.9%) or both (68.7%). Of the 179 affected individuals, 17.3% had sporadic and 82.7% had familial disease. CONCLUSION: The equal distribution between the sexes (female 53%, male 47%) indicates that HOS is transmitted as an autosomal dominant trait. In contrast to familial cases, cardiac involvement alone was not reported in any of the sporadic cases. When a cardiac malformation is diagnosed, the family members of the affected individual should be carefully screened for Holt-Oram syndrome. SN - 0024-7758 UR - https://www.unboundmedicine.com/medline/citation/12698771/Pedigree_analysis_and_descriptive_investigation_of_three_classic_phenotypes_associated_with_Holt_Oram_syndrome_ L2 - http://www.diseaseinfosearch.org/result/3457 DB - PRIME DP - Unbound Medicine ER -