Prenatal detection of Peters plus-like syndrome

Area of Science:

• Medical Genetics
• Fetal Medicine
• Ophthalmology

Background:

• Peters plus syndrome is a rare congenital disorder characterized by ocular anterior segment defects, specifically Peter's anomaly, often accompanied by craniofacial and skeletal abnormalities.
• Prenatal diagnosis of fetal anomalies necessitates thorough evaluation to differentiate between various genetic syndromes.

Observation:

• A 21-week fetus presented with suspected hydrocephalus, exhibiting hyperechogenic lenses, microphthalmia, hypotelorism, retrognathia, mild ventriculomegaly, absent cavum septum pellucidum, and short stature on ultrasound.
• Amniocentesis and microarray analysis confirmed normal chromosomal copy numbers, notably excluding mutations in the B3GALTL gene.

Findings:

• Fetal autopsy and ultrasound findings were consistent with Peters plus syndrome.
• However, the absence of a B3GALTL gene mutation led to the diagnosis of Peters plus-like syndrome, highlighting a critical diagnostic distinction.

Implications:

• Obstetricians should consider Peters plus-like syndrome in prenatal cases presenting with ocular, craniofacial, and skeletal anomalies when the B3GALTL gene mutation is absent.
• This distinction is crucial for accurate genetic counseling and management of affected pregnancies.
• Further research into the genetic underpinnings of Peters plus-like syndrome is warranted.