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