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Fraser's syndrome
A P Agashe1, S D Adrianwala, S S Bhatti
1Dept. of Opthalmology, KEM Hospital, Parel, Bombay, Maharashtra.
Journal of Postgraduate Medicine
|October 1, 1992
Summary
Fraser syndrome is a rare genetic disorder characterized by specific physical anomalies. This case report details a neonate with multiple congenital malformations consistent with Fraser syndrome, who unfortunately did not survive infancy.
Area of Science:
- Genetics
- Pediatrics
- Medical Case Reports
Background:
- Fraser syndrome is a rare autosomal recessive disorder.
- It is characterized by a spectrum of congenital anomalies, including cryptophthalmos and syndactyly.
- Early diagnosis and management are crucial for affected infants.
Observation:
- A full-term female infant presented with features of Fraser syndrome at birth.
- Clinical manifestations included upper lid coloboma, cryptophthalmos, facial dysmorphism, hypospadias, and bilateral syndactyly.
- Abdominal ultrasound revealed a maldeveloped kidney and eyeball.
Findings:
- The neonate exhibited a severe presentation of Fraser syndrome.
- The presence of cryptophthalmos, upper lid coloboma, and renal and ocular malformations were key diagnostic features.
- No affected siblings were reported in this family.
Implications:
- This case highlights the importance of recognizing the constellation of symptoms associated with Fraser syndrome.
- Understanding the phenotypic variability is essential for accurate diagnosis and genetic counseling.
- Further research into the genetic basis and management strategies for Fraser syndrome is warranted.