PMID: 9546832Apr 18, 1998Paper

Oral-facial-digital (OFD) syndrome with associated features: a new syndrome or genetic heterogeneity and variability?

Clinical Dysmorphology
V Morán-BarrosoD Saavedra-Ontiveros

Abstract

We report a male patient with clinical characteristics compatible with an OFD syndrome and previously unassociated findings such as myelomeningocele, stenosis of aqueduct of Sylvius and heart anomalies, that we feel that may represent a new type of OFD syndrome (XII).

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