Related Experiment Video
Updated: Jun 16, 2026

Flexible Colonoscopy in Mice to Evaluate the Severity of Colitis and Colorectal Tumors Using a Validated Endoscopic Scoring System
Published on: October 16, 2013
Imperforate anus is a rare associated finding in blepharocheilodontic syndrome
K Nicole Weaver1, Katherine D Rutledge, John H Grant
1University of Alabama School of Medicine, Birmingham, Alabama, USA.
Abstract:
Blepharocheilodontic (BCD) syndrome is a rare autosomal-dominant condition that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. It exhibits considerable phenotypic variability among affected individuals. An additional rare associated manifestation is imperforate a.u. (IA), which has been reported in three cases [Guyuron et al. (1995); J Craniofac Surg 6:392-394; Gorlin et al. (1996); Am J Med Genet 65:109-112; da Silva Lopes et al. (2003); Am J Med Genet Part A 121A:266-270]. Here we report on a family with BCD that includes IA, confirming that anorectal anomalies are a part of BCD syndrome.
Related Concept Videos
Assessment of the Rectum and Anus
Rectal Inspection
Begin by inspecting the perianal and anal areas for color, texture, rashes,...
Esophageal Achalasia
Inflammatory Bowel Disease V: Surgical Management
Here are some common surgical interventions for IBD:
Chronic Bowel Disorders: Introduction
Irritable Bowel Syndrome (IBS) is a common disorder affecting the gastrointestinal tract. The distinctive feature is recurrent abdominal pain associated with altered bowel movements, manifesting as constipation, diarrhea, or fluctuating between both. The...
Appendicitis
Esophageal Perforation-I: Introduction
The location of esophageal perforation can vary, occurring anywhere along the esophagus.