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Article

A tortuous proximal urethra in urorectal septum malformation sequence?

American journal of medical genetics. Part A - 1 May 2014

Lin Henry J, Lugo Hector, Tran Thu, Tovar Jason P, Corral Julia, Zork Noelia M, Smith Lynne M, French Samuel W, Barajas Luciano

Abstract excerpt

We observed a newborn boy with urorectal septum malformation sequence. Anomalies of the genitalia and rectum were present. He expired on the first day of life, due to severe lung hypoplasia. Autopsy showed a colon that ended in a blind sac, an enlarged bladder with no grossly visible urethra, and dysplastic kidneys. A cone-shaped tissue at the usual site of the bladder outlet contained tortuous and slit-like...

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PMID: 24665006
DOI: 10.1002/ajmg.a.36451

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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