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Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia
Author(s) -
Bonioli Eugenio,
Hennekam Raoul C.,
Spena Gianantonio,
Morcaldi Guido,
Di Stefano Antonio,
Serra Giovanni,
Bellini Carlo
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30448
Subject(s) - aplasia cutis congenita , skull , medicine , heterotopia (medicine) , aplasia , pathology , anatomy , dermatology , scalp
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. © 2004 Wiley‐Liss, Inc.