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A male infant with the Catel-Manzke syndrome and dislocatable knees
Journal of Medical Genetics
|June 1, 1986
Insights
Catel-Manzke syndrome, characterized by micrognathia and index finger duplication, was observed in an infant. This case also presents with dislocatable knees, a previously undocumented feature of this rare genetic disorder.
Area of Science:
- Genetics
- Pediatrics
- Medical Case Reports
Background:
- Catel-Manzke syndrome is a rare genetic disorder.
- It is characterized by severe micrognathia and bilateral duplication of the proximal phalanges of the index fingers.
Purpose of the Study:
- To describe a novel case presentation of Catel-Manzke syndrome.
- To report an associated finding not previously documented in the literature.
Main Methods:
- Clinical observation and diagnostic assessment of a male infant.
- Review of existing literature on Catel-Manzke syndrome.
Main Results:
- The infant presented with severe micrognathia and bilateral index finger phalangeal duplication, consistent with Catel-Manzke syndrome.
- The patient also exhibited dislocatable knees, a feature not previously reported in association with this syndrome.
Conclusions:
- This case expands the phenotypic spectrum of Catel-Manzke syndrome.
- The presence of dislocatable knees warrants further investigation in future cases and genetic studies.
Abstract:
A male infant is described with severe micrognathia and bilateral duplication of the proximal phalanges of the index fingers, an association which is characteristic of the Catel-Manzke syndrome. In addition, he had dislocatable knees, which have not been described in this disorder before.