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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis

Figure 1

Clinical features and histopathology. A : Typical facial features – long philtrum thin upper lip, prominent eyes, broad forehead, sagging cheeks and lateral part of upper eyelids. B :Cutis laxa with redundant axillary skin folds (arrows). C : Chest roentgenogram (Antero-posterior view) – aortic enlargement evident as mediastinal widening. Dilated descending aortic shadow seen in right hemithorax just above the level of the diaphragm. D :Echocardiogram showing dilated descending thoracic aorta (AoDt)compressing upon the left heart structures (LA – left atrium, LV – left ventricle). [Figures  1A-1D belong to Proband 5]. E and   F : Orcein-stained skin biopsies from an age-matched control and proband 10 respectively,showing the abundant, dark stained elastic fibers in the control and severely deficient and fragmented elastic fibers in patient.

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