Urorectal Septum Malformation Sequence

Report of Six Cases and Embryological Analysis

Luis F. Escobar, David Weaver, David Bixler, M. E. Hodes, Michael Mitchell

Research output: Contribution to journalArticle

69 Citations (Scopus)

Abstract

We encountered six female infants with a specific pattern of developmental abnormalities of the urogenital and lower Intestinal tracts. The anomalies included ambiguous genitalia, lack of perineal openings, and müllerian and urinary tract anomalies. Each patient had normal female chromosomes and normal adrenal gland function. We believe that this combination of anomalies represents a recognizable and specific sequence that Is due to a failure of migration to and/or fusion of the urorectal septum with the cloacal membrane. This, in turn, we postulate, leads to persistence of the cloaca and cloacal membrane and failure of normal differentiation of the external genitalia. Persistence of the cloacal membrane results in absence of the urethral and vaginal openings and an imperforate anus. We propose calling this entity the urorectal septum malformation sequence.

Original languageEnglish
Pages (from-to)1021-1024
Number of pages4
JournalAmerican Journal of Diseases of Children
Volume141
Issue number9
DOIs
StatePublished - 1987

Fingerprint

Membranes
Urogenital Abnormalities
Cloaca
Imperforate Anus
Disorders of Sex Development
Genitalia
Adrenal Glands
Urinary Tract
Chromosomes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Urorectal Septum Malformation Sequence : Report of Six Cases and Embryological Analysis. / Escobar, Luis F.; Weaver, David; Bixler, David; Hodes, M. E.; Mitchell, Michael.

In: American Journal of Diseases of Children, Vol. 141, No. 9, 1987, p. 1021-1024.

Research output: Contribution to journalArticle

Escobar, Luis F. ; Weaver, David ; Bixler, David ; Hodes, M. E. ; Mitchell, Michael. / Urorectal Septum Malformation Sequence : Report of Six Cases and Embryological Analysis. In: American Journal of Diseases of Children. 1987 ; Vol. 141, No. 9. pp. 1021-1024.
@article{94ab63e3c35e40c1be813a04661544d3,
title = "Urorectal Septum Malformation Sequence: Report of Six Cases and Embryological Analysis",
abstract = "We encountered six female infants with a specific pattern of developmental abnormalities of the urogenital and lower Intestinal tracts. The anomalies included ambiguous genitalia, lack of perineal openings, and m{\"u}llerian and urinary tract anomalies. Each patient had normal female chromosomes and normal adrenal gland function. We believe that this combination of anomalies represents a recognizable and specific sequence that Is due to a failure of migration to and/or fusion of the urorectal septum with the cloacal membrane. This, in turn, we postulate, leads to persistence of the cloaca and cloacal membrane and failure of normal differentiation of the external genitalia. Persistence of the cloacal membrane results in absence of the urethral and vaginal openings and an imperforate anus. We propose calling this entity the urorectal septum malformation sequence.",
author = "Escobar, {Luis F.} and David Weaver and David Bixler and Hodes, {M. E.} and Michael Mitchell",
year = "1987",
doi = "10.1001/archpedi.1987.04460090098038",
language = "English",
volume = "141",
pages = "1021--1024",
journal = "JAMA Pediatrics",
issn = "2168-6203",
publisher = "American Medical Association",
number = "9",

}

TY - JOUR

T1 - Urorectal Septum Malformation Sequence

T2 - Report of Six Cases and Embryological Analysis

AU - Escobar, Luis F.

AU - Weaver, David

AU - Bixler, David

AU - Hodes, M. E.

AU - Mitchell, Michael

PY - 1987

Y1 - 1987

N2 - We encountered six female infants with a specific pattern of developmental abnormalities of the urogenital and lower Intestinal tracts. The anomalies included ambiguous genitalia, lack of perineal openings, and müllerian and urinary tract anomalies. Each patient had normal female chromosomes and normal adrenal gland function. We believe that this combination of anomalies represents a recognizable and specific sequence that Is due to a failure of migration to and/or fusion of the urorectal septum with the cloacal membrane. This, in turn, we postulate, leads to persistence of the cloaca and cloacal membrane and failure of normal differentiation of the external genitalia. Persistence of the cloacal membrane results in absence of the urethral and vaginal openings and an imperforate anus. We propose calling this entity the urorectal septum malformation sequence.

AB - We encountered six female infants with a specific pattern of developmental abnormalities of the urogenital and lower Intestinal tracts. The anomalies included ambiguous genitalia, lack of perineal openings, and müllerian and urinary tract anomalies. Each patient had normal female chromosomes and normal adrenal gland function. We believe that this combination of anomalies represents a recognizable and specific sequence that Is due to a failure of migration to and/or fusion of the urorectal septum with the cloacal membrane. This, in turn, we postulate, leads to persistence of the cloaca and cloacal membrane and failure of normal differentiation of the external genitalia. Persistence of the cloacal membrane results in absence of the urethral and vaginal openings and an imperforate anus. We propose calling this entity the urorectal septum malformation sequence.

UR - http://www.scopus.com/inward/record.url?scp=0023640519&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0023640519&partnerID=8YFLogxK

U2 - 10.1001/archpedi.1987.04460090098038

DO - 10.1001/archpedi.1987.04460090098038

M3 - Article

VL - 141

SP - 1021

EP - 1024

JO - JAMA Pediatrics

JF - JAMA Pediatrics

SN - 2168-6203

IS - 9

ER -