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Klippel–Feil syndrome and levo-looped transposition of the great arteries

Published online by Cambridge University Press:  27 May 2014

Efrén Martínez-Quintana  and
Fayna Rodríguez-González
Efrén Martínez-Quintana*
Affiliation:
Cardiology Service, Insular-Materno Infantil University Hospital, Las Palmas de Gran Canaria, Spain
Fayna Rodríguez-González
Affiliation:
Ophthalmology Service, Dr. Negrín University Hospital of Gran Canaria, Las Palmas de Gran Canaria, Spain
*
Correspondence to: Dr E. Martínez-Quintana, MD, PhD, Servicio de Cardiología, Complejo Hospitalario Universitario Insular-Materno Infantil, Avd. Marítima del Sur s/n, 35016 Las Palmas de Gran Canaria, Spain. Tel: 0034928441360; Fax: 0034928441853; E-mail: [email protected]
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Abstract

Klippel–Feil syndrome is a skeletal disorder characterised by low hairline and a short neck due to abnormal fusion of two or more cervical vertebrae. Although congenital heart and lung defects are infrequent, some abnormalities such as cor triatriatum, coarctation of the aorta, total anomalous pulmonary venous connection, or lung agenesis have been reported. The challenge of recognising Klippel–Feil syndrome lies in the fact that there is an association of this syndrome with other significant conditions such as skeletal, genitourinary, neurological, ear, and some cardiac defects. We report a Klippel–Feil syndrome type III 14-year-old patient with a levo-looped transposition of the great arteries. In addition, the patient had agenesis of the left upper-lung lobe.

Keywords

Klippel–Feil syndromelevo-looped transposition of the great arteriespulmonary agenesisheart defect
Type
Brief Reports
Information
Cardiology in the Young , Volume 25 , Issue 3 , March 2015 , pp. 591 - 593
Copyright
© Cambridge University Press 2014 

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References

1. Tracy, MR, Dormans, JP, Kusumi, K. Klippel–Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res 2004; 424: 183–190.Google Scholar
2. Senoglu, M, Ozbag, D, Gumusalan, Y. Two cases of Klippel–Feil syndrome. Int J Anat Var 2008; 1: 6–7.Google Scholar
3. Mohamed, JY, Faqeih, E, Alsiddiky, A, Alshammari, MJ, Ibrahim, NA, Alkuraya, FS. Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel–Feil anomaly. Am J Hum Genet. 2013; 92: 157–161.CrossRefGoogle ScholarPubMed
4. Kaplan, KM, Spivak, JM, Bendo, JA. Embryology of the spine and associated congenital abnormalities. Spine J 2005; 5: 564–576.Google Scholar
5. Abraheem, A, Potter, L. Cor Triatrium in Klippel–Feil syndrome. Eur J Intern Med. 2009; 20: e27–e28.Google Scholar
6. Subramaniam, P, Babu, KL, Sugnani, S. Rare association of Klippel Feil syndrome with cleft palate and congenital cardiac deformities: a case report. J Clin Pediatr Dent 2010; 35: 213–216.Google Scholar
7. Masuda, H, Arikawa, K, Yuda, T, Taira, A. Total anomalous pulmonary venous connection associated with Klippel–Feil syndrome: a case report. Kyobu Geka 1991; 44: 417–420.Google Scholar
8. Drose, JA. Fetal Echocardiography, 2nd edn. Elsevier, St. Louis, 2009.Google Scholar
9. Bhagat, R, Pant, K, Singh, VK, Pant, C, Gupta, A, Jaggi, OP. Pulmonary developmental anomaly associated with Klippel–Feil syndrome and anomalous atrioventricular conduction. Chest 1992; 101: 1157–1158.Google Scholar