Shwachman-Diamond Syndrome With Congenital Myogenic Ptosis: Case Report of a Rare Association?
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DOI: 10.1097/mph.0000000000002469
Abstract: Background: Shwachman-Diamond syndrome (SDS) is a multisystem disorder characterized by exocrine pancreatic insufficiency and bone marrow failure. There is considerable variation in the phenotypes of SDS. We present a case of an infant presenting with… read more here.
Keywords: diamond syndrome; ptosis; case; congenital myogenic ... See more keywords