Skip to main content
Figure 1 | BMC Medical Genetics

Figure 1

From: Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

Figure 1

Ileocolonoscopy and esophagogastroduodenoscopy. (A) Presence of multiple areas of brownish “alligator skin” appearance of the intestinal mucosa, associated with disappearance of the vascular pattern and tubular aspect of the colon. (B) Histological analysis of a biopsy specimen taken from the distal ileum during ileocolonoscopy showed several apoptotic cells in along the epithelial cells lining the crypts (arrows). (C) EGDS of the gastric antrum showed multiple areas of brownish (“alligator skin”) appearance of the mucosa, in the absence of active erosions or ulcers. (D) The second portion of the duodenum showed multiple whitish spots compatible but not specific for lymphangiectasia. (E) SBCE showed the presence of multiple whitish spots in the second part of the duodenum (confirming findings at EGDS) extending to the proximal jejunum. (F) SBCE showed multiple subcentimetric nodular areas covered by normal mucosa in the jejunum and ileum, compatible with nodular lymphoid hyperplasia.

Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us