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Fryns syndrome: a new definition
H Pinar1, M W Carpenter, D Abuelo
1Department of Pathology and Laboratory Medicine, Women and Infants' Hospital of Rhode Island, Providence 02905.
Pediatric Pathology
|May 1, 1994
Summary
Fryns syndrome, a lethal congenital anomaly, often presents with central nervous system (CNS) malformations and congenital heart disease. These findings suggest revising the major diagnostic criteria for this rare genetic disorder.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Pathology
Background:
- Fryns syndrome is a rare, lethal autosomal recessive disorder characterized by multiple congenital anomalies.
- Initial diagnostic criteria included abnormal facies, narrow thorax, limb/nail hypoplasia, and diaphragmatic hernia with pulmonary hypoplasia.
Observation:
- A review of 45 Fryns syndrome cases (41 published, 4 new) revealed inconsistencies in original diagnostic criteria.
- Narrow thorax and gastrointestinal anomalies were noted in less than 50% of cases.
- Central nervous system (CNS) malformations were present in 72% of cases with available data.
Findings:
- Significant central nervous system (CNS) malformations, including agenesis of the corpus callosum, arhinencephaly, and heterotopia, were observed.
- Congenital heart disease (CHD) was present in 88% of cases with available cardiovascular data.
- Common CHD included ventricular septal defects, atrial septal defects, and persistent left superior vena cava.
Implications:
- The high prevalence of CNS anomalies and congenital heart disease necessitates their inclusion in the major diagnostic criteria for Fryns syndrome.
- Revised diagnostic criteria will improve the accuracy and consistency of Fryns syndrome identification.
- Further research into the genetic and molecular underpinnings of Fryns syndrome is warranted.