title: Lymphangiectasia with persistent Müllerian derivatives: confirmation of autosomal recessive Urioste syndrome.
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.
authors.affiliation: Department of Clinical Genetics, University Hospital Dijkzigt, Erasmus University Rotterdam, Westzeedijk 112, 3015 AH Rotterdam, The Netherlands. vanhaelst@kgen.azr.nl
authors.forename: M M
authors.initials: MM
authors.lastname: van Haelst
authors.forename: J
authors.initials: J
authors.lastname: Hoogeboom
authors.forename: R J
authors.initials: RJ
authors.lastname: Galjaard
authors.forename: W J
authors.initials: WJ
authors.lastname: Kleijer
authors.forename: N S
authors.initials: NS
authors.lastname: den Hollander
authors.forename: R R
authors.initials: RR
authors.lastname: de Krijger
authors.forename: R C
authors.initials: RC
authors.lastname: Hennekam
authors.forename: M F
authors.initials: MF
authors.lastname: Niermeijer
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000649:Amniocentesis; D025063:Chromosome Disorders / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007621:Karyotyping; D008201:Lymphangiectasis, Intestinal / Q000150:complications* / Q000473:pathology; D008209:Lymphedema / Q000209:etiology; D008297:Male; D009095:Mullerian Ducts / Q000002:abnormalities*; D011504:Protein-Losing Enteropathies / Q000209:etiology* / Q000503:physiopathology; D013577:Syndrome