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A case of Seckel syndrome with tricuspid atresia.
Genet Couns. 2014; 25(2):171-5.GC

Abstract

Seckel syndrome is an autosomal recessive disease presenting with marked growth retardation, microcephalic dwarfism, some facial and skeletal abnormalities. Tricuspid atresia is a rare and life threatening cyanotic congenital heart diseases, with an incidence of 1% to 3%. It is feature of the anatomically normally related great arteries with a large ventricular septum defect and stenosis of right ventricular outflow tract. Tricuspid atresia has never been reported in patients with Seckel syndrome. Here we report a 15-day-old girl baby diagnosed as having Seckel syndrome with tricuspid atresia.

Authors

No affiliation info availableNo 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

25059015

Citation

Arslan, D, et al. "A Case of Seckel Syndrome With Tricuspid Atresia." Genetic Counseling (Geneva, Switzerland), vol. 25, no. 2, 2014, pp. 171-5.
Arslan D, Cimen D, Guvenc O, et al. A case of Seckel syndrome with tricuspid atresia. Genet Couns. 2014;25(2):171-5.
Arslan, D., Cimen, D., Guvenc, O., Sert, A., Oktay, A., & Oran, B. (2014). A case of Seckel syndrome with tricuspid atresia. Genetic Counseling (Geneva, Switzerland), 25(2), 171-5.
Arslan D, et al. A Case of Seckel Syndrome With Tricuspid Atresia. Genet Couns. 2014;25(2):171-5. PubMed PMID: 25059015.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A case of Seckel syndrome with tricuspid atresia. AU - Arslan,D, AU - Cimen,D, AU - Guvenc,O, AU - Sert,A, AU - Oktay,A, AU - Oran,B, PY - 2014/7/26/entrez PY - 2014/7/26/pubmed PY - 2014/8/13/medline SP - 171 EP - 5 JF - Genetic counseling (Geneva, Switzerland) JO - Genet. Couns. VL - 25 IS - 2 N2 - Seckel syndrome is an autosomal recessive disease presenting with marked growth retardation, microcephalic dwarfism, some facial and skeletal abnormalities. Tricuspid atresia is a rare and life threatening cyanotic congenital heart diseases, with an incidence of 1% to 3%. It is feature of the anatomically normally related great arteries with a large ventricular septum defect and stenosis of right ventricular outflow tract. Tricuspid atresia has never been reported in patients with Seckel syndrome. Here we report a 15-day-old girl baby diagnosed as having Seckel syndrome with tricuspid atresia. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/25059015/A_case_of_Seckel_syndrome_with_tricuspid_atresia_ L2 - http://www.diseaseinfosearch.org/result/7214 DB - PRIME DP - Unbound Medicine ER -
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