Tetralogy of Fallot Associated with Dysplastic Kidneys, Cloacal Anomalies, and Female Pseudohermaphroditism: A Systemic Anomaly of Septation?

A 20-week fetus was diagnosed with tetralogy of Fallot and multicystic kidneys. The postmortem study showed missing müllerian structures with small streak ovaries, external male genitalia, and an abnormal cloacal septation (imperforate anus with a sigmoid colon opening in the bladder). As the obser...

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Main Authors: José Morales-Roselló, Teresa Escudero Serrano, Ana García Almela, Rafael Lázaro Santander
Format: Article
Language:English
Published: Hindawi Limited 2012-01-01
Series:Case Reports in Obstetrics and Gynecology
Online Access:http://dx.doi.org/10.1155/2012/502919
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spelling doaj-756715cf0cc6490fb4c52b196c4ebc562020-11-24T23:24:05ZengHindawi LimitedCase Reports in Obstetrics and Gynecology2090-66842090-66922012-01-01201210.1155/2012/502919502919Tetralogy of Fallot Associated with Dysplastic Kidneys, Cloacal Anomalies, and Female Pseudohermaphroditism: A Systemic Anomaly of Septation?José Morales-Roselló0Teresa Escudero Serrano1Ana García Almela2Rafael Lázaro Santander3Servicio de Obstetricia y Ginecología, Hospital de la Plana, Villarreal, SpainServicio de Obstetricia y Ginecología, Hospital de la Plana, Villarreal, SpainServicio de Obstetricia y Ginecología, Hospital de la Plana, Villarreal, SpainServicio de Anatomía Patológica, Hospital de la Plana, Villarreal, SpainA 20-week fetus was diagnosed with tetralogy of Fallot and multicystic kidneys. The postmortem study showed missing müllerian structures with small streak ovaries, external male genitalia, and an abnormal cloacal septation (imperforate anus with a sigmoid colon opening in the bladder). As the observed anomalies were related with septation, a mechanism related with the activation of specific growth factors, we discuss the possibility of a disorder in the function of the bone morphogenetic proteins as a common cause for the widespread anomalies found in this fetus.http://dx.doi.org/10.1155/2012/502919
collection DOAJ
language English
format Article
sources DOAJ
author José Morales-Roselló
Teresa Escudero Serrano
Ana García Almela
Rafael Lázaro Santander
spellingShingle José Morales-Roselló
Teresa Escudero Serrano
Ana García Almela
Rafael Lázaro Santander
Tetralogy of Fallot Associated with Dysplastic Kidneys, Cloacal Anomalies, and Female Pseudohermaphroditism: A Systemic Anomaly of Septation?
Case Reports in Obstetrics and Gynecology
author_facet José Morales-Roselló
Teresa Escudero Serrano
Ana García Almela
Rafael Lázaro Santander
author_sort José Morales-Roselló
title Tetralogy of Fallot Associated with Dysplastic Kidneys, Cloacal Anomalies, and Female Pseudohermaphroditism: A Systemic Anomaly of Septation?
title_short Tetralogy of Fallot Associated with Dysplastic Kidneys, Cloacal Anomalies, and Female Pseudohermaphroditism: A Systemic Anomaly of Septation?
title_full Tetralogy of Fallot Associated with Dysplastic Kidneys, Cloacal Anomalies, and Female Pseudohermaphroditism: A Systemic Anomaly of Septation?
title_fullStr Tetralogy of Fallot Associated with Dysplastic Kidneys, Cloacal Anomalies, and Female Pseudohermaphroditism: A Systemic Anomaly of Septation?
title_full_unstemmed Tetralogy of Fallot Associated with Dysplastic Kidneys, Cloacal Anomalies, and Female Pseudohermaphroditism: A Systemic Anomaly of Septation?
title_sort tetralogy of fallot associated with dysplastic kidneys, cloacal anomalies, and female pseudohermaphroditism: a systemic anomaly of septation?
publisher Hindawi Limited
series Case Reports in Obstetrics and Gynecology
issn 2090-6684
2090-6692
publishDate 2012-01-01
description A 20-week fetus was diagnosed with tetralogy of Fallot and multicystic kidneys. The postmortem study showed missing müllerian structures with small streak ovaries, external male genitalia, and an abnormal cloacal septation (imperforate anus with a sigmoid colon opening in the bladder). As the observed anomalies were related with septation, a mechanism related with the activation of specific growth factors, we discuss the possibility of a disorder in the function of the bone morphogenetic proteins as a common cause for the widespread anomalies found in this fetus.
url http://dx.doi.org/10.1155/2012/502919
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