TY - JOUR
T1 - Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia
AU - Bonioli, Eugenio
AU - Hennekam, Raoul C.
AU - Spena, Gianantonio
AU - Morcaldi, Guido
AU - Di Stefano, Antonio
AU - Serra, Giovanni
AU - Bellini, Carlo
PY - 2005/1/15
Y1 - 2005/1/15
N2 - 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.
AB - 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.
KW - Aplasia cutis congenital
KW - Brain heterotopia
KW - Cortical dysplasia
KW - Intestinal lymphangiectasia
KW - Lymph vessel dysplasia
KW - Lymphedema
UR - http://www.scopus.com/inward/record.url?scp=11844254755&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=11844254755&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.30448
DO - 10.1002/ajmg.a.30448
M3 - Article
C2 - 15578573
AN - SCOPUS:11844254755
VL - 132 A
SP - 202
EP - 205
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 2
ER -