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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

This summary is machine-generated.

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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.

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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.