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Variable clinical expression of Holt-Oram syndrome in three generations.
Turk J Pediatr 1998 Oct-Dec; 40(4):613-8TJ

Abstract

Holt-Oram syndrome is a distinct autosomal dominant entity presenting with upper limb defects and cardiac abnormality. No correlation between the severity of the heart and the limb defects has been established. Here we report variable clinical expression of Holt-Oram syndrome in three generations. The grandfather presented with typical upper limb defects: phocomelia of arms with three digits on each hand, congenital heart defect and narrow shoulders. His son manifested cardiac conduction disturbance with no congenital heart or skeletal defect. The granddaughter showed ventricular septal defect and moderate radial deviations of both hands with no obvious hypoplasia of the extremities. Clinical data of the presented family suggests lack of penetrance with respect to skeletal and structural cardiac abnormalities in the Holt-Oram syndrome.

Authors+Show Affiliations

Department of Medical Genetics, Gülhane Military Medical Academy, Ankara.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

10028874

Citation

Oğur, G, et al. "Variable Clinical Expression of Holt-Oram Syndrome in Three Generations." The Turkish Journal of Pediatrics, vol. 40, no. 4, 1998, pp. 613-8.
Oğur G, Gül D, Lenk MK, et al. Variable clinical expression of Holt-Oram syndrome in three generations. Turk J Pediatr. 1998;40(4):613-8.
Oğur, G., Gül, D., Lenk, M. K., Imirzalioğlu, N., Alpay, F., & Oğur, E. (1998). Variable clinical expression of Holt-Oram syndrome in three generations. The Turkish Journal of Pediatrics, 40(4), pp. 613-8.
Oğur G, et al. Variable Clinical Expression of Holt-Oram Syndrome in Three Generations. Turk J Pediatr. 1998;40(4):613-8. PubMed PMID: 10028874.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Variable clinical expression of Holt-Oram syndrome in three generations. AU - Oğur,G, AU - Gül,D, AU - Lenk,M K, AU - Imirzalioğlu,N, AU - Alpay,F, AU - Oğur,E, PY - 1999/2/24/pubmed PY - 1999/2/24/medline PY - 1999/2/24/entrez SP - 613 EP - 8 JF - The Turkish journal of pediatrics JO - Turk. J. Pediatr. VL - 40 IS - 4 N2 - Holt-Oram syndrome is a distinct autosomal dominant entity presenting with upper limb defects and cardiac abnormality. No correlation between the severity of the heart and the limb defects has been established. Here we report variable clinical expression of Holt-Oram syndrome in three generations. The grandfather presented with typical upper limb defects: phocomelia of arms with three digits on each hand, congenital heart defect and narrow shoulders. His son manifested cardiac conduction disturbance with no congenital heart or skeletal defect. The granddaughter showed ventricular septal defect and moderate radial deviations of both hands with no obvious hypoplasia of the extremities. Clinical data of the presented family suggests lack of penetrance with respect to skeletal and structural cardiac abnormalities in the Holt-Oram syndrome. SN - 0041-4301 UR - https://www.unboundmedicine.com/medline/citation/10028874/Variable_clinical_expression_of_Holt_Oram_syndrome_in_three_generations_ L2 - http://www.diseaseinfosearch.org/result/3457 DB - PRIME DP - Unbound Medicine ER -