Congenital megaurethra in a fetus with Meckel syndrome and in a fetus with female pseudoermanphroditism. The first report of these occurrences

OBJECTIVE: the purpose of this paper is to report the first case of megaurethra in a fetus with Meckel syndrome and in a fetus with femal pseudoermaphroditism

Bibliographische Detailangaben
Veröffentlicht in:	Journal of prenatal medicine. - 2007. - 8(2014), 3-4 vom: 10. Apr., Seite 42-6
1. Verfasser:	Di Meglio, Letizia (VerfasserIn)
Weitere Verfasser:	Mazzarelli, Laura Letizia, Boscaino, Amedeo, Cancemi, Dino, Morelli, Franco, Lonardo, Maria Concetta, Lonardo, Valeria, Friso, Patrizia, Spampanato, Carmine, Urciuoli, Maria, Ventruto, Marialuisa, Ventruto, Valerio
Format:	Aufsatz
Sprache:	English
Veröffentlicht:	2014
Zugriff auf das übergeordnete Werk:	Journal of prenatal medicine
Schlagworte:	Case Reports Meckel syndrome congenital megaurethra female pseudoermaphroditism prenatal diagnosis

Beschreibung
Zusammenfassung:	OBJECTIVE: the purpose of this paper is to report the first case of megaurethra in a fetus with Meckel syndrome and in a fetus with femal pseudoermaphroditism RESULTS: the former case refers to a fetus of 13 weeks gestation with the three following prominent anomalies, observed by transonic scan and confirmed by autopsy: congenital megaurethra, anal atresia, single umbelical artery. The latter case refers to a fetus of 18 weeks gestation. Autopsy confirmed penile malformation and revealed ovaries in the abdomen. The karyotype was 46,XX with normal molecular karytype. The megaurethra was discovered by sonography at 18 weeks gestation. Autopsy confirmed penile malformation and revealed ovaries in the abdomen. The karyotype was 46,XX with normal molecular karyotype (Array-CGH, 1 Mb of resolution) METHODS: transonic scan, autopsy, karyotype, array-CGH CONCLUSIONS: the first prenatal cases of two genetic syndromes with megaurethra have been reported, concening respectively a fetus with Meckel syndrome and a fetus with femal pseudoermaphroditism. The latter was confirmed by both autopsy and the normal female 46,XX karyotype
Beschreibung:	Date Completed 12.08.2015 Date Revised 29.09.2020 published: Print Citation Status PubMed-not-MEDLINE
ISSN:	1971-3282