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A case of Seckel syndrome with Tetralogy of Fallot.
Genet Couns. 2010; 21(1):49-51.GC

Abstract

Seckel syndrome, also known as Harper's Syndrome and Virchow-Seckel-Syndrome, was first described by Seckel in 1960, and is a rare (<1:10,000 live births) autosomal recessive trait. The syndrome (OMIM 210600) is a form of primordial dwarfism, characterized by severe intrauterine growth restriction, postnatal dwarfism, severe microcephaly with variable mental retardation, facial anomalies and skeletal abnormalities. Cardiac anomalies have been described in only five case. We report a male newborn with typical findings of Seckel sydrome associated with Tetrology of Fallot. This is the first case reported in concomitance with Tetralogy of Fallot, and might be a new finding of the syndrome. We would like to emphasize that clinicians should perform diagnostic interventions for congenital cardiac defects in Seckel Syndrome.

Authors+Show Affiliations

Sisli Children Hospital, Department of Pediatrics, Division of Neonatology, Istanbul, Turkey.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

20420029

Citation

Can, E, et al. "A Case of Seckel Syndrome With Tetralogy of Fallot." Genetic Counseling (Geneva, Switzerland), vol. 21, no. 1, 2010, pp. 49-51.
Can E, Bulbul A, Uslu S, et al. A case of Seckel syndrome with Tetralogy of Fallot. Genet Couns. 2010;21(1):49-51.
Can, E., Bulbul, A., Uslu, S., Demirin, H., Comert, S., Bolat, F., & Nuhoglu, A. (2010). A case of Seckel syndrome with Tetralogy of Fallot. Genetic Counseling (Geneva, Switzerland), 21(1), 49-51.
Can E, et al. A Case of Seckel Syndrome With Tetralogy of Fallot. Genet Couns. 2010;21(1):49-51. PubMed PMID: 20420029.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A case of Seckel syndrome with Tetralogy of Fallot. AU - Can,E, AU - Bulbul,A, AU - Uslu,S, AU - Demirin,H, AU - Comert,S, AU - Bolat,F, AU - Nuhoglu,A, PY - 2010/4/28/entrez PY - 2010/4/28/pubmed PY - 2010/5/15/medline SP - 49 EP - 51 JF - Genetic counseling (Geneva, Switzerland) JO - Genet. Couns. VL - 21 IS - 1 N2 - Seckel syndrome, also known as Harper's Syndrome and Virchow-Seckel-Syndrome, was first described by Seckel in 1960, and is a rare (<1:10,000 live births) autosomal recessive trait. The syndrome (OMIM 210600) is a form of primordial dwarfism, characterized by severe intrauterine growth restriction, postnatal dwarfism, severe microcephaly with variable mental retardation, facial anomalies and skeletal abnormalities. Cardiac anomalies have been described in only five case. We report a male newborn with typical findings of Seckel sydrome associated with Tetrology of Fallot. This is the first case reported in concomitance with Tetralogy of Fallot, and might be a new finding of the syndrome. We would like to emphasize that clinicians should perform diagnostic interventions for congenital cardiac defects in Seckel Syndrome. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/20420029/A_case_of_Seckel_syndrome_with_Tetralogy_of_Fallot_ L2 - http://www.diseaseinfosearch.org/result/2720 DB - PRIME DP - Unbound Medicine ER -