title: Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia.
abstract: We describe a female infant with a previously unreported combination of manifestations characterized by aplasia cutis, skull defect, brain heterotopia, mild congenital lymphedema, and intestinal lymphangiectasia. The association of intestinal lymphangiectasia and aplasia cutis, and the association of intestinal lymphangiectasia with brain heterotopia in the lymphedema-lymphangiectasia-mental retardation syndrome have been described in single reports. In one family, the association of cortical dysplasia and congenital lymphedema have been related to mutations in the RELN gene.
authors.affiliation: Dipartimento di Pediatria, Università di Genova, Istituto G. Gaslini, Genova, Italia.
authors.forename: Eugenio
authors.initials: E
authors.lastname: Bonioli
authors.forename: Raoul C
authors.initials: RC
authors.lastname: Hennekam
authors.forename: Gianantonio
authors.initials: G
authors.lastname: Spena
authors.forename: Guido
authors.initials: G
authors.lastname: Morcaldi
authors.forename: Antonio
authors.initials: A
authors.lastname: Di Stefano
authors.forename: Giovanni
authors.initials: G
authors.lastname: Serra
authors.forename: Carlo
authors.initials: C
authors.lastname: Bellini
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001921:Brain / Q000002:abnormalities*; D004476:Ectodermal Dysplasia / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008201:Lymphangiectasis, Intestinal / Q000473:pathology*; D000091042:Reelin Protein; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome