Meckel-Gruber syndrome: a rare clinical entity

Area of Science:

• Medical Genetics
• Prenatal Diagnosis
• Teratology

Background:

• Meckel-Gruber syndrome is a rare, autosomal recessive inherited genetic disorder with unknown etiology.
• Incidence ranges from 1:13,250 to 1:140,000, with higher rates in specific populations like Finnish and Gujarati Indians.
• Fewer than 200 cases have been documented since its initial reporting in 1822 and 1934.

Observation:

• A case of Meckel-Gruber syndrome was identified through antenatal ultrasound.
• The diagnosis prompted an early termination of pregnancy, following the parents' informed decision.

Findings:

• This report presents a rare case of Meckel-Gruber syndrome.
• The case highlights the utility of antenatal ultrasound in diagnosing rare genetic conditions.

Implications:

• Early antenatal diagnosis of Meckel-Gruber syndrome allows for informed reproductive choices.
• Reporting rare cases contributes to a better understanding of the syndrome's prevalence and clinical presentation.
• This case underscores the importance of genetic counseling and advanced imaging in managing rare congenital disorders.