Diverticulosis of bowel, hernia, and retinal detachment
Diverticulosis of bowel, hernia, and retinal detachment
Definition
A syndromic intestinal malformation characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions.
Also known as diverticulosis of bowel, hernia, and retinal detachment, marfanoid syndrome, De Silva type — per MONDO