CEREBROOCULOFACIOSKELETAL SYNDROME (COFS)

• Autosomal recessive.
• COFS is a degenerative disorder of the brain and spinal cord that usually manifests before birth.
• Neurogenic arthrogryposis arises because of reduced white matter and dysgenetic gray matter of the brain.

ULTRASOUND

• Microcephaly.
• Micropthalmia.
• Cataracts.

PROGNOSIS

The condition presents at birth and affected infants undergo a rapidly deteriorating course characterized by virtually no growth and cachexia. Survival is less than 5 years (1).

REFERENCES

1. Surana RB, Fraga JR, Sinkford SM. The cerebrooculofacioskeletal syndrome. Clin Genet 1978;13:486.