Abstract

BOLDRINI, María Pía; GIOVO, María Elsa  and  BOGADO, Claudia. Oro-facial-digital syndrome type I: phenotypic variable expression. Arch. argent. pediatr. [online]. 2014, vol.112, n.6, pp.e242-e246. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2014.e242.

Oral-facial-digital syndrome type 1 (OFD1; OMIM #311200) is a developmental disorder transmitted as an X-linked dominant condition with embryonic male lethality. It is associated with malformation of the oral cavity, face, and digits. Furthermore, it is characterized by the presence of milia, hypotrichosis and polycystic kidney disease. We present two cases with clinical diagnosis oforal-facial-digital syndrome type I with some phenotypic variability between them.

Keywords : Oro-facial-digital syndrome; Milia; Ciliopathies.

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