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Published on: July 6, 2022
[Fryns syndrome]
Suada Heljić1, Sabina Terzić, Amra Dzinović
1Pedijatrijska klinika, Klinicki centar Univerziteta Sarajevo. heljicsuada@hotmail.com
Fryns syndrome, a rare developmental disorder linked to chromosome 16 deletions, presents with craniofacial and digital abnormalities. This case highlights a live-born female with typical features but survival past the neonatal period with significant neurological impairment.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Context:
- Fryns syndrome is an extremely rare genetic disorder.
- Characterized by a deletion on the long arm of chromosome 16.
- Previously reported cases often involved stillborn infants.
Purpose:
- To describe a live-born case of Fryns syndrome.
- To detail the specific clinical manifestations and genetic findings.
- To discuss the implications for survival and management.
Summary:
- A female infant with a deletion on chromosome 16 presented with typical Fryns syndrome features including craniofacial dysmorphism, Dandy Walker malformation, cardiac defects, and renal hypoplasia.
- Unlike some previous reports, this patient survived the neonatal period despite severe neurological impairment.
- The absence of diaphragmatic hernia was noted, differentiating it from some classic presentations.
Impact:
- Expands the known phenotypic spectrum of Fryns syndrome.
- Provides insights into the prognosis and potential long-term challenges for affected individuals.
- Contributes to understanding genotype-phenotype correlations in chromosomal deletion syndromes.
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