title: Severe phenotype in two half-sibs with Adams Oliver syndrome.
abstract: 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.
  
  
  
  A 27 year-old woman was referred to the Genetics Department. Her previous girl presented acrania, constriction rings and terminal transverse limb defects. The present girl had occipital encephalocele, large scalp defects, aplasia cutis congenita, terminal transverse limb defects and bilateral cleft lip and palate. Autosomal dominant inheritance with reduced penetrance or gonadal mosaicism has to be considered in Adams Oliver syndrome with severe intracranial anomalies.
authors.affiliation: Departamento de Genética y Genómica, Instituto Nacional de Perinatología.
authors.forename: Rosalba
authors.initials: R
authors.lastname: Sevilla-Montoya
authors.affiliation: Departamento de Neurología, Instituto Nacional de Perinatología.
authors.forename: Braulio
authors.initials: B
authors.lastname: Ríos-Flores
authors.affiliation: Departamento de Patología, Instituto Nacional de Perinatología, México, DF, México.
authors.forename: Elsa
authors.initials: E
authors.lastname: Moreno-Verduzco
authors.affiliation: Departamento de Genética y Genómica, Instituto Nacional de Perinatología.
authors.forename: Mauricio
authors.initials: M
authors.lastname: Domínguez-Castro
authors.affiliation: Departamento de Genética y Genómica, Instituto Nacional de Perinatología.
authors.forename: Carlos I
authors.initials: CI
authors.lastname: Rivera-Pedroza
authors.affiliation: Departamento de Genética y Genómica, Instituto Nacional de Perinatología.
authors.forename: Dra Mónica
authors.initials: DM
authors.lastname: Aguinaga-Ríos
mesh_terms: D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005313:Fetal Death; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D012536:Scalp Dermatoses / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D012720:Severity of Illness Index