Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia

Eugenio Bonioli; Raoul C. Hennekam; Gianantonio Spena; Guido Morcaldi; Antonio Di Stefano; Giovanni Serra; Carlo Bellini

doi:10.1002/ajmg.a.30448

Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia

Eugenio Bonioli, Raoul C. Hennekam, Gianantonio Spena, Guido Morcaldi, Antonio Di Stefano, Giovanni Serra, Carlo Bellini

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	202-205
Number of pages	4
Journal	American Journal of Medical Genetics
Volume	132 A
Issue number	2
DOIs	https://doi.org/10.1002/ajmg.a.30448
Publication status	Published - Jan 15 2005

Keywords

Aplasia cutis congenital
Brain heterotopia
Cortical dysplasia
Intestinal lymphangiectasia
Lymph vessel dysplasia
Lymphedema

ASJC Scopus subject areas

Genetics(clinical)

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10.1002/ajmg.a.30448

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Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia. / Bonioli, Eugenio; Hennekam, Raoul C.; Spena, Gianantonio; Morcaldi, Guido; Di Stefano, Antonio; Serra, Giovanni; Bellini, Carlo.

In: American Journal of Medical Genetics, Vol. 132 A, No. 2, 15.01.2005, p. 202-205.

Research output: Contribution to journal › Article › peer-review

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