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 23rd 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 p

SUBMITTER: Canda MT 

PROVIDER: S-EPMC6334245 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature