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[Catel-Manzke syndrome].

L Bernd1, A K Martini, M Schiltenwolf

  • 1Stiftung Orthopädische Universitätsklinik Heidelberg.

Klinische Padiatrie
|January 1, 1990
PubMed
Summary
This summary is machine-generated.

Catel-Manzke syndrome presents with characteristic index finger deviation and Pierre-Robin syndrome features. Patient survival hinges on the severity of congenital facial skull malformations.

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Area of Science:

  • Genetics and Developmental Biology
  • Pediatric Medicine
  • Rare Diseases

Background:

  • Catel-Manzke syndrome is a rare genetic disorder.
  • It is characterized by specific physical anomalies.
  • Associated conditions include Pierre-Robin syndrome.

Observation:

  • Patients exhibit a distinctive deviation of the index fingers.
  • Common features include micrognathia (small jaw), glossoptosis (tongue falling back), and cleft palate.
  • Congenital malformations of the face and skull significantly impact patient outcomes.

Findings:

  • The study presents two cases of Catel-Manzke syndrome.
  • Analysis focuses on the leading symptoms and associated Pierre-Robin syndrome features.
  • Severity of craniofacial malformations is a critical determinant of survival.

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Implications:

  • Improved understanding of Catel-Manzke syndrome's clinical presentation.
  • Highlights the importance of early diagnosis and management of associated conditions.
  • Informs prognosis and genetic counseling for affected families.