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. 2015 Dec 30;18(1):71-6.
doi: 10.1515/bjmg-2015-0008. eCollection 2015 Jun.

Early onset marfan syndrome: Atypical clinical presentation of two cases

A Ozyurt  1 , A Baykan  2 , M Argun  2 , O Pamukcu  2 , H Halis  3 , S Korkut  3 , Z Yuksel  4 , T Gunes  3 , N Narin  2
Affiliations

Early onset marfan syndrome: Atypical clinical presentation of two cases

A Ozyurt et al. Balkan J Med Genet. .

Abstract

Early onset Marfan Syndrome (eoMFS) is a rare, severe form of Marfan Syndrome (MFS). The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system.

Keywords: Craniosynostosis; Early onset Marfan Syndrome (eoMFS); Heart failure; Neonatal Marfan Syndrome (MFS); Pediatric; Supraventricular tachycardia.

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Figures

Figure 1
Figure 1
Clinical features of the patients: a) arachnodactyly of patient 1; b) Steinberg sign of patient 1; c–d) lateral and frontal views of the patient 2; e) craniosynostosis seen in 3D CT of patient 2.
Figure 2
Figure 2
Echocardiographic features of patients: a, b, c) apical 5 chamber view of patient 1. Mitral valve prolapsus was seen in 2a and 2b; aortic and mitral insufficiency seen in color Doppler echocardiography examination in 2c. d) apical 5 chamber view of patient 2.
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