[Fryns syndrome. Report on 3 new cases]
J-L Alessandri1, T Attali, C Brayer
1Service de réanimation néonatale et pédiatrique, centre hospitalier départemental Félix-Guyon, 97405 Saint-Denis cedex, La Réunion. alessandri@chd-fguyon.fr
Summary
Fryns syndrome, a lethal condition causing congenital diaphragmatic hernia (CDH) and limb anomalies, is diagnosed by associated CDH and brachytelephalangy. Genetic testing is crucial for accurate diagnosis and counseling.
Area of Science:
- Medical Genetics
- Pediatric Medicine
- Teratology
Background:
- Fryns syndrome is a lethal autosomal recessive disorder.
- It is characterized by congenital diaphragmatic hernia (CDH), pulmonary hypoplasia, craniofacial anomalies, and limb hypoplasia.
Observation:
- Three patients presented with Fryns syndrome in the French Indian Ocean islands.
- Clinical features included coarse face, cloudy corneae, cleft lip/palate, hypoplastic nails, and brachytelephalangy.
- Two patients had CDH, while one experienced severe respiratory distress without diaphragmatic involvement.
Findings:
- Fryns syndrome is the most common multiple congenital anomaly associated with CDH.
- The diagnosis is strongly suggested by the co-occurrence of CDH and brachytelephalangy.
- Normal cytogenetic studies in these patients highlight the need for advanced techniques to exclude chromosomal aberrations.
Implications:
- Accurate diagnosis of Fryns syndrome requires excluding chromosomal abnormalities through high-resolution karyotyping or array CGH.
- These advanced genetic analyses are essential for proper genetic counseling in sporadic cases.
- Understanding the genetic basis of Fryns syndrome aids in differentiating it from other CDH-associated conditions.
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