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Anorectal anomaly in Pfeiffer syndrome
H Ohashi1, H Nishimoto, J Nishimura
1Division of Medical Genetics, Saitama Children's Medical Center, Japan.
Clinical Dysmorphology
|January 1, 1993
Summary
A Japanese girl with Pfeiffer syndrome presented typical features and a previously undescribed imperforate anus. This finding may expand the known symptoms of Pfeiffer syndrome or indicate a new acrocephalosyndactyly condition.
Area of Science:
- Genetics
- Pediatrics
- Developmental Biology
Background:
- Pfeiffer syndrome is a rare genetic disorder characterized by craniosynostosis and syndactyly.
- It belongs to the group of acrocephalosyndactyly syndromes, affecting skull, facial, and limb development.
Observation:
- A case study of a Japanese girl with Pfeiffer syndrome is presented.
- The patient exhibited classic clinical and radiological signs consistent with Pfeiffer syndrome.
- Notably, she also presented with an imperforate anus, a feature not previously documented in Pfeiffer syndrome.
Findings:
- The co-occurrence of typical Pfeiffer syndrome manifestations with an imperforate anus is reported.
- This association expands the recognized phenotypic spectrum of Pfeiffer syndrome.
- Alternatively, it may represent a distinct acrocephalosyndactyly syndrome with a novel presentation.
Implications:
- This case broadens the understanding of Pfeiffer syndrome's potential clinical variability.
- It highlights the importance of thorough examination for associated anomalies in acrocephalosyndactyly syndromes.
- Further research is warranted to clarify the genetic and developmental basis of this expanded phenotype.