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Monilethrix with holt-oram syndrome: case report of a rare association.


ABSTRACT: Congenital hypotrichosis may be due to a number of causes and may have multiple systemic associations. A child born of second-degree consanguineous marriage was found to have monilethrix as the cause of congenital hypotrichosis. A detailed systemic evaluation in the child revealed atrial septal defect and a hypoplastic right thumb leading to a diagnosis of coexisting Holt-Oram syndrome.

SUBMITTER: Shah V 

PROVIDER: S-EPMC4387697 | biostudies-literature | 2015 Jan-Mar

REPOSITORIES: biostudies-literature