Persistence of Müllerian derivatives and intestinal lymphangiectasis in two newborn brothers: Confirmation of the Urioste syndrome. - Archive ouverte HAL
Article Dans Une Revue American Journal of Medical Genetics Année : 2001

Persistence of Müllerian derivatives and intestinal lymphangiectasis in two newborn brothers: Confirmation of the Urioste syndrome.

C Bellini
  • Fonction : Auteur
Eugenio Bonioli
  • Fonction : Auteur
Massimo Mazzella
  • Fonction : Auteur
Simona Costabel
  • Fonction : Auteur
Angela Rita Sementa
  • Fonction : Auteur
Carla Enrica Marino
  • Fonction : Auteur
P Tomà
  • Fonction : Auteur
Raoul C.M. Hennekam
  • Fonction : Auteur
Giovanni Serra
  • Fonction : Auteur

Résumé

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.

Dates et versions

hal-01930642 , version 1 (22-11-2018)

Identifiants

Citer

C Bellini, Eugenio Bonioli, Nathalie Josso, Corinne Belville, Massimo Mazzella, et al.. Persistence of Müllerian derivatives and intestinal lymphangiectasis in two newborn brothers: Confirmation of the Urioste syndrome.. American Journal of Medical Genetics, 2001, 104 (1), pp.69 - 74. ⟨10.1002/ajmg.1599⟩. ⟨hal-01930642⟩
31 Consultations
0 Téléchargements

Altmetric

Partager

More