Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report

Peters’ plus syndrome is a rare but clinically recognizable autosomal recessive ocular genetic syndrome. Diagnosis during the fetal life is challenging due to the presence of nonspecific findings such as ventriculomegaly in the growth-retarded fetuses. We report the first case of fetal Peters’ plus syndrome from India, where fetal ultrasound and the family history were helpful in providing a clue to the diagnosis that was confirmed later on by the DNA analysis. 1. Introduction Peters’-plus syndrome also known as the Kivlin-Krause syndrome (OMIM number 261540) is a rare autosomal recessive congenital disorder of glycosylation [1]. Exact incidence is not known. Fewer than 75 cases with this condition have been reported worldwide. Peters’ plus syndrome can be clinically recognized by the presence of typical Peters’ anomaly (an anterior segment abnormality due to developmental dysgenesis causing central corneal opacity) along with facial dysmorphism, cleft lip or palate, disproportionate short stature, and varying degree of intellectual disability. Dysmorphic features include a round face, hypertelorism, short palpebral fissures, prominent forehead, cupid bow lip, thin upper lip, long philtrum, with or without cleft lip and/or cleft palate, hearing loss, and joint hyperextensibility. Presence of congenital heart defects, genitourinary anomalies such as hydronephrosis, hypospadias, cryptorchidism, hypoplastic clitoris, and labia majora, and structural brain malformations may alter the prognosis [2]. Lesnik Oberstein et al. [3] showed that homozygosity for loss-of-function mutations in beta 1, 3-galactosyltransferase-like gene (B3GALTL) on chromosome 13 (13q12.3) is responsible for this phenotype. The majority of the patients have homozygous hot spot splice mutation in intron 8？(c.660+1G>A), causing a defective glycosylation of thrombospondin type 1 repeats [1]. Peters’ anomaly with multiple congenital anomalies has also been reported in few patients with unbalanced chromosomal abnormalities such as 11q interstitial deletion, ring chromosome 21, partial trisomy 5p, partial monosomy 4q, and varying-size deletions (781？kb–~1.5？Mb) on microarray involving one of the parental alleles and a pathogenic point mutation on the other allele [3, 4]. Sonographic diagnosis during the fetal life is challenging due to the presence of nonspecific findings such as ventriculomegaly in the growth-retarded fetuses which could be a part of multiple genetic syndromes. We report the first case of fetal Peters’-plus syndrome from India. The diagnosis was suspected on the detailed