Anorectal anomaly in Pfeiffer syndrome
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Updated: Nov 8, 2026

Quantification of Levator Ani Hiatus Enlargement by Magnetic Resonance Imaging in Males and Females with Pelvic Organ Prolapse
Published on: April 17, 2019
H Ohashi1, H Nishimoto, J Nishimura
1Division of Medical Genetics, Saitama Children's Medical Center, Japan.
Abstract:
A Japanese girl with Pfeiffer syndrome is described. She has clinical and radiological manifestations typical of the syndrome. In addition, she had an imperforate anus not described previously in the syndrome. This seems to expand the phenotype associated with Pfeiffer syndrome or represent a new acrocephalosyndactyly syndrome.
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