title: [Partial agenesis of the corpus callosum associated with characteristic fascies, ocular anomalies, hypotonia and mental retardation (description of 2 cases in the female sex)].
abstract: Two children of female sex with partial agenesis of corpus callosum, ocular anomalies, hypotonia and intellectual retardation are described. It is discussed if this clinical picture can be a new syndrome.
mesh_terms: D061085:Agenesis of Corpus Callosum; D001848:Bone Diseases, Developmental / Q000209:etiology*; D002648:Child; D002675:Child, Preschool; D003337:Corpus Callosum / Q000000981:diagnostic imaging; D005149:Facial Expression; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000209:etiology*; D008607:Intellectual Disability / Q000209:etiology*; D013577:Syndrome; D014057:Tomography, X-Ray Computed
vernacular_title: Agenesia parziale del corpo calloso associata a facies caratteristica, anomalie oculari, ipotonia e ritardo mentale (descrizione di due casi di sesso femminile).