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Fryns syndrome

R F Stratton1, R S Young, H S Heiman

  • 1South Texas Genetic Center, San Antonio 78229.

American Journal of Medical Genetics
|March 1, 1993
PubMed
Summary
This summary is machine-generated.

This case report details a premature infant diagnosed with Fryns syndrome, presenting unusual anomalies including bilateral posterior diaphragmatic eventration and Tetralogy of Fallot. The infant also exhibited other rare congenital defects, highlighting the syndrome

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Area of Science:

  • Medical Genetics
  • Pediatric Surgery
  • Neonatology

Background:

  • Fryns syndrome is a rare genetic disorder characterized by diaphragmatic defects, respiratory distress, and distinctive facial anomalies.
  • Typical presentations involve diaphragmatic hernia with visceral herniation, but variations exist.

Observation:

  • A premature female infant presented with Fryns syndrome and several rare congenital anomalies.
  • Key findings included bilateral posterior eventration of the hemidiaphragms, a less common diaphragmatic anomaly.
  • Additional anomalies observed were unilateral cleft lip, camptodactyly, duodenal atresia, tracheomalacia, bronchomalacia, and Tetralogy of Fallot.

Findings:

  • The infant's presentation deviated from the typical Fryns syndrome phenotype, notably with posterior diaphragmatic eventration instead of anterior herniation.

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  • The constellation of multiple congenital anomalies, including cardiac and gastrointestinal defects, underscores the phenotypic variability of Fryns syndrome.

    • Implications:

    • This case expands the known spectrum of anomalies associated with Fryns syndrome.
    • Understanding these rare presentations is crucial for accurate diagnosis, genetic counseling, and management strategies in affected infants.
    • Further research into the genetic underpinnings of Fryns syndrome may elucidate the mechanisms behind its diverse phenotypic expressions.