title: Persistence of Müllerian derivatives and intestinal lymphangiectasis in two newborn brothers: confirmation of the Urioste syndrome.
abstract: We describe two newborn brothers with a pattern of malformation characterized by the persistence of Müllerian duct derivatives, intestinal lymphangiectasia, hypertrophied alveolar ridges, and early death. Postmortem examination showed the presence of a rudimentary uterus, fallopian tubes, the upper third of a vagina, a prostate of normal shape, a dilated colon, and generalized intestinal and pulmonary lymphangiectasia. The syndrome was first delineated by Urioste and co-workers [1993: Am J Med Genet 47:494-503]. These cases confirm the existence of a definite and distinct entity.
authors.affiliation: Servizio di Patologia Neonatale, Dipartimento di Pediatria, Università di Genova, Istituto G. Gaslini, Largo G. Gasslini 5, 16147 Genoa, Italy. carlobellini@ospedale.gaslini.ge.it
authors.forename: C
authors.initials: C
authors.lastname: Bellini
authors.forename: E
authors.initials: E
authors.lastname: Bonioli
authors.forename: N
authors.initials: N
authors.lastname: Josso
authors.forename: C
authors.initials: C
authors.lastname: Belville
authors.forename: M
authors.initials: M
authors.lastname: Mazzella
authors.forename: S
authors.initials: S
authors.lastname: Costabel
authors.forename: A R
authors.initials: AR
authors.lastname: Sementa
authors.forename: C E
authors.initials: CE
authors.lastname: Marino
authors.forename: P
authors.initials: P
authors.lastname: Tomà
authors.forename: R C
authors.initials: RC
authors.lastname: Hennekam
authors.forename: G
authors.initials: G
authors.lastname: Serra
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008201:Lymphangiectasis, Intestinal / Q000235:genetics* / Q000473:pathology; D009095:Mullerian Ducts / Q000002:abnormalities*; D013577:Syndrome