Marfanoid syndrome, De Silva type

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Marfanoid syndrome, De Silva type

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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Marfanoid syndrome, De Silva type?

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