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

Research output: Contribution to journal › Article

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 languageEnglish
Pages (from-to)202-205
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume132 A
Issue number2
DOIs
Publication statusPublished - Jan 15 2005

Fingerprint

Intestinal Lymphangiectasis
Ectodermal Dysplasia
Lymphedema
Skull
Lymphangiectasis
Brain
Malformations of Cortical Development
Intellectual Disability
Mutation
Genes

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

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

Bonioli, E, Hennekam, RC, Spena, G, Morcaldi, G, Di Stefano, A, Serra, G & Bellini, C 2005, 'Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia', American Journal of Medical Genetics, vol. 132 A, no. 2, pp. 202-205. https://doi.org/10.1002/ajmg.a.30448
Bonioli E, Hennekam RC, Spena G, Morcaldi G, Di Stefano A, Serra G et al. Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia. American Journal of Medical Genetics. 2005 Jan 15;132 A(2):202-205. https://doi.org/10.1002/ajmg.a.30448
Bonioli, Eugenio ; Hennekam, Raoul C. ; Spena, Gianantonio ; Morcaldi, Guido ; Di Stefano, Antonio ; Serra, Giovanni ; Bellini, Carlo. / Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia. In: American Journal of Medical Genetics. 2005 ; Vol. 132 A, No. 2. pp. 202-205.
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