vitalwiki

Марфаноїдний синдром, тип Де Сільва

ORPHA:2464· ICD-10 Q87.4· Marfanoid syndrome, De Silva type

Визначення(English summary)

A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996.

Поширеність
<1 / 1 000 000
Вік початку
Adult, Childhood