Publications by authors named "Osvaldo Alfonso Pinto Artigalas"
SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE (EEC) SYNDROME PRESENTING NORMAL PARENTS: GERMLINE MOSAICISM?
Rafael Fabiano Machado Rosa Samir Abou Ghaouche de Moraes Leonardo Paludo Sulczinski Filipe Augusto da Silva Olga Gaio Milner Osvaldo Alfonso Pinto Artigalas
Rev Paul Pediatr
July 2018
Objective: EEC is an acronym for an autosomal dominant syndrome clinically characterized by ectrodactyly (E), ectodermal dysplasia (E) and cleft lip/palate (C). Our aim was to describe a rare case of siblings affected by ectrodactyly, ectodermal dysplasia and cleft lip/palate (EEC) syndrome presenting normal parents.
Case Description: The patient was the third son of young and healthy parents.