Prenatal detection of Peters plus-like syndrome

Abstract

Peters plus syndrome is a rare congenital disorder that includes ocular anterior segment defects of the classic Peter's anomaly, and is mostly associated with craniofacial and skeletal defects. A 21-week fetus was referred for further evaluation due to a suspicion of fetal hydrocephalus. An ultrasound examination revealed hyperechogenic lenses, microphthalmia, hypotelorism, retrognathia, mild ventriculomegaly, absence of the cavum septum pellucidum, and short stature. Amniocentesis and further microarray analysis revealed normal chromosomal copy numbers including the gene B3GALTL. In utero mort fetalis occurred at the 23^rd gestational week. Ultrasound and fetal autopsy findings were suggestive of Peters plus syndrome, but the absence of the B3GALTL gene mutation made the diagnosis Peters plus-like syndrome. Obstetricians should consider Peters plus-like syndrome with prenatal detection of ocular anomalies along with craniofacial and skeletal anomalies with the absence of B3GALTL gene mutation.

Keywords: B3GALTL gene; Peters anomaly; Peters plus syndrome; congenital cataract; prenatal diagnosis.

Figure 1. Hyperechogenic patterns of the lens and anterior chamber

Figure 2. Binocular distance was 29 mm (5^th percentile), inter-ocular distance was 13.5 mm (50^th percentile) and ocular diameter 7.6 mm (<5^th percentile) (microphthalmia) at 21 weeks

Figure 3. Fetal face: note the narrow palpebral fissures, a long philtrum, cupid’s bow upper lips with a thin vermillion border

Figure 4. Fascial profile: fascial hirsutism and low-set ears

Figure 5. Absence of the posterior corneal stroma and Descemet membrane (black arrows), protrusion of the lens material to the anterior chamber (white arrow)

Figure 6. Optic nerve degeneration