Open AccessSíndrome orofaciodigital tipo I. Expresión fenotípica variable
Author(s) -
María Pía Boldrini,
María Elsa Giovo,
Claudia Bogado
Publication year - 2014
Publication title -
archivos argentinos de pediatría
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.236
H-Index - 19
eISSN - 1668-3501
pISSN - 0325-0075
DOI - 10.5546/aap.2014.e242
Subject(s) - hypotrichosis , milia , medicine , dermatology , biology , genetics , gene
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 of oral-facial-digital syndrome type I with some phenotypic variability between them.