title: Evidence that AEC syndrome and Bowen--Armstrong syndrome are variable expressions of the same disease.
abstract: Several clinical disorders combine ectodermal dysplasia (ED) and cleft lip and/or palate (CL/P). These conditions have been recognized as a group of diseases with a narrow phenotypic spectrum and multiple points of overlap. We report a patient with a clinical diagnosis of AEC syndrome (ankyloblepharon, ectodermal defects, and CL/P) who additionally has some features observed in a different ED-CL/P disorder, Bowen-Armstrong syndrome. Because of this clinical overlap, we suggest that AEC syndrome and Bowen-Armstrong syndrome may be variable manifestations of the same pathologic entity.
authors.affiliation: Servicio de Genética, Hospital General de México-Facultad de Medicina UNAM, Mexico City, México.
authors.forename: J C
authors.initials: JC
authors.lastname: Zenteno
authors.forename: C
authors.initials: C
authors.lastname: Venegas
authors.forename: S
authors.initials: S
authors.lastname: Kofman-Alfaro
mesh_terms: D001913:Bowen's Disease / Q000175:diagnosis*; D002675:Child, Preschool; D002971:Cleft Lip / Q000175:diagnosis*; D002972:Cleft Palate / Q000175:diagnosis*; D003937:Diagnosis, Differential; D004476:Ectodermal Dysplasia / Q000175:diagnosis*; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis* / Q000209:etiology; D019382:Human Growth Hormone / Q000172:deficiency; D006801:Humans; D010641:Phenotype; D010859:Pigmentation Disorders / Q000175:diagnosis; D013577:Syndrome
chemical_list: D019382:Human Growth Hormone