Cover Image, Volume 176A, Number 3, March 2018.

Area of Science:

• Medical Imaging
• Genetics
• Prenatal Diagnosis

Background:

• Raine syndrome is a rare, severe genetic disorder.
• Non-lethal forms of Raine syndrome present unique diagnostic challenges.
• Prenatal detection of fetal anomalies is critical for management.

Purpose of the Study:

• To report fetal ultrasonographic findings in a case of non-lethal Raine syndrome.
• To correlate imaging findings with the clinical presentation.
• To improve understanding of prenatal manifestations of Raine syndrome.

Main Methods:

• Case report of a patient with Raine syndrome.
• Detailed fetal ultrasonography including neurosonography.
• Review of clinical and genetic data.

Main Results:

• Fetal ultrasonography revealed significant cerebral hyperechogenicity.
• Other ultrasonographic markers may be present.
• The findings were consistent with a non-lethal variant of Raine syndrome.

Conclusions:

• Cerebral hyperechogenicity on fetal ultrasound can be an indicator of Raine syndrome.
• Early prenatal diagnosis is essential for appropriate counseling and management.
• Further research is needed to define the spectrum of prenatal findings in Raine syndrome.