Lymphangiectasia with persistent müllerian derivatives: Confirmation of autosomal recessive Urioste syndrome

Carlo Bellini, Eugenio Bonioli, Nathalie Josso, Corinne Belville, Massimo Mazzella, Simona Costabel, Angela Rita Sementa, Carla Enrica Marino, Paolo Tomà, R. C M Hennekam, Giovanni Serra

Research output: Contribution to journalArticlepeer-review

Abstract

We report on a sibship with protein-losing enteropathy related to intestinal lymphangiectasia, a peculiar face, and genital anomalies. The parents are distantly related and from Dutch ancestry. The first patient was born with a protein-losing enteropathy, craniofacial anomalies, and renal defects. At 1 year of age, she died of severe complications of the protein-losing enteropathy and respiratory distress. Her brother was a cytogenetically normal male fetus identified by prenatal ultrasound at 19 weeks with similar anomalies. The pregnancy was terminated at 20 weeks. Autopsy showed müllerian duct remnants. These cases seem to confirm the Urioste syndrome [Urioste et al., 1993: Am J Med Genet 47:494-503]. Although it was previously only reported in 46,XY individuals, this report of a consanguineous family with an affected sibship of both sexes suggests it to be an autosomal recessive entity.

Original languageEnglish
Pages (from-to)65-68
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume104
Issue number1
DOIs
Publication statusPublished - Nov 15 2001

Keywords

  • Autosomal recessive inheritance
  • Lymphangiectasia
  • Lymphedema
  • Persistent müllerian derivatives
  • Urioste syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

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