Accompanying defects with imperforate anus

Metrics details. Human tails and pseudotails are rare sacrococcygeal lesions that are associated with a wide variety of anomalies and syndromes. Anorectal malformations are also relatively uncommon congenital defects that often occur in conjunction with syndromes or other congenital abnormalities. The anomalies associated with both disorders determine the timing and approach to surgical correction. We present an unusual case of a patient with both imperforate anus and a pseudotail in the absence of a syndrome or other associated anomalies and we emphasize the necessity of a thorough preoperative evaluation.
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Anorectal Malformations Caused by Defects in Sonic Hedgehog Signaling

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The diagnosis of an imperforate anus in female fetuses

Try out PMC Labs and tell us what you think. Learn More. Anorectal malformations are a common clinical problem affecting the development of the distal hindgut in infants. The spectrum of anorectal malformations ranges from the mildly stenotic anus to imperforate anus with a fistula between the urinary and intestinal tracts to the most severe form, persistent cloaca. The etiology, embryology, and pathogenesis of anorectal malformations are poorly understood and controversial. Sonic hedgehog Shh is an endoderm-derived signaling molecule that induces mesodermal gene expression in the chick hindgut. However, the role of Shh signaling in mammalian hindgut development is unknown.
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Imperforate anus with a rectovestibular fistula and pseudotail: a case report

NCBI Bookshelf. Meenakshi Singh ; Kashish Mehra. Authors Meenakshi Singh 1 ; Kashish Mehra 2. Imperforate anus or anal atresia is a congenital anorectal malformation ARM where a normal anal opening is absent at birth.
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Imperforate anus is an anomaly caused by a defect in the development of the hindgut during early pregnancy. It is a relatively common congenital malformation and is more common in males. Although there are cases of a solitary imperforate anus, the condition is more commonly found as a part of a wider spectrum of other congenital anomalies.
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