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Fryns syndrome: a lethal birth defect with variable phenotypic expressions in siblings
Kamaldeep Arora1, Anu Thukral, Rashmi Ranjan Das
1Division of Neonatology, Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Ansari Nagar, New Delhi, 110029, India.
Indian Journal of Pediatrics
|April 23, 2013
Summary
Fryns syndrome (FS) is a rare genetic disorder causing birth defects. This report details a familial case in India, highlighting the condition's variable presentation and recurrence.
Area of Science:
- Medical Genetics
- Clinical Dysmorphology
- Pediatric Congenital Anomalies
Background:
- Fryns syndrome (FS) is an autosomal recessive disorder characterized by multiple congenital anomalies.
- Key features include craniofacial dysmorphism, diaphragmatic hernia, and distal limb hypoplasia.
- Variable phenotypic expression is a known characteristic of Fryns syndrome.
Observation:
- A newborn infant diagnosed with Fryns syndrome is reported.
- The infant's mother had two previous pregnancies resulting in affected infants.
- The previously affected infants exhibited variable phenotypic expression.
Findings:
- This case represents the first documented instance of Fryns syndrome with familial recurrence in India.
- The report underscores the significant clinical variability associated with Fryns syndrome.
- The observed familial recurrence provides further evidence for the genetic basis of FS.
Implications:
- This case contributes to the understanding of Fryns syndrome's genetic inheritance patterns.
- It emphasizes the importance of genetic counseling for families with a history of congenital anomalies.
- The findings aid in recognizing the diverse clinical spectrum of Fryns syndrome in diverse populations.
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