Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia.
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.
Bonioli
Eugenio
E
Dipartimento di Pediatria, Università di Genova, Istituto G. Gaslini, Genova, Italia.
Hennekam
Raoul C
RC
Spena
Gianantonio
G
Morcaldi
Guido
G
Di Stefano
Antonio
A
Serra
Giovanni
G
Bellini
Carlo
C
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