Open AccessSevere phenotype in two half-sibs with Adams Oliver syndrome
Author(s) -
Rosalba Sevilla-Montoya,
Braulio Ríos-Flores,
Elsa Moreno-Verduzco,
Mauricio Domínguez-Castro,
Carlos I Rivera-Pedroza,
Dra Mónica Aguinaga-Ríos
Publication year - 2014
Publication title -
archivos argentinos de pediatría
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.236
H-Index - 19
eISSN - 1668-3501
pISSN - 0325-0075
DOI - 10.5546/aap.2014.eng.e108
Subject(s) - phenotype , medicine , genetics , biology , gene
Adams Oliver syndrome (AOS) is a highly variable entity with terminal transverse limb defects (TTLD) and aplasia cutis congenita (ACC) with a wide phenotypic spectrum. Several inheritance models have been observed; the most severe phenotype has been related to an autosomal recessive (AR) pattern of inheritance. OBJECTIVE. To present a family with two half siblings with a severe phenotype of Adams Oliver syndrome in which the mother was healthy.