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: C Bellini, E Bonioli, N Josso, C Belville, M Mazzella, S Costabel, A R Sementa, C E Marino, P Tomà, R C Hennekam, G Serra
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 104 Issue 1 Pg. 69-74 (Nov 15 2001) ISSN: 0148-7299 [Print] United States
• PMID: 11746031 (Publication Type: Case Reports, Journal Article, Review)
• Copyright: Copyright 2001 Wiley-Liss, Inc.

Topics

• Abnormalities, Multiple (genetics, pathology)
• Adult
• Fatal Outcome
• Female
• Humans
• Infant, Newborn
• Lymphangiectasis, Intestinal (genetics, pathology)
• Mullerian Ducts (abnormalities)
• Syndrome