Prenatal detection of Peters plus-like syndrome
Journal Title: Turkish Journal of Obstetrics and Gynecology - Year 2018, Vol 15, Issue 4
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 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.
Authors and Affiliations
Mehmet Tunç Canda, Latife Doğanay Çağlayan, Ayşe Banu Demir, Namık Demir
Keywords
Related Articles
- EP ID EP436535
- DOI 10.4274/tjod.45649
- Views 116
- Downloads 0
Fetomaternal outcomes in pregnant women with hepatitis E infection; still an important fetomaternal killer with an unresolved mystery of increased virulence in pregnancy
Objective: Hepatitis is a prevalent infection in developing countries. While hepatitis B and C are deepening their roots in the developed world, hepatitis A and E are common in the developing world. The uniqueness of hep...
Role of less commonly agreed risk factors on disease recurrence in endometrial cancer: a propensity scorematched comparison
Objective: To compare the clinicopathologic features of patients with endometrial cancer (EC) with recurrent disease with a primary surgery, stage, grade, and tumor histotype-matched cohort of patients without recurrence...
Associations between night eating syndrome and metabolic parameters in pregnant women
Objective: In this study, we aimed to evaluate the incidence of night eating in pregnancy and the relationship between night eating scores and nutritional status, insulin resistance, and lipid profile in pregnant women....
Segmental duplication-quantitative fluorescent-polymerase chain reaction: An approach for the diagnosis of Down syndrome in India
Objective: Early detection of high-risk pregnancies for Down syndrome (DS) is the main target of offering prenatal diagnosis. Segmental duplication-quantitative fluorescent-polymerase chain reaction (SD-QF-PCR) can be us...
The effect of pelvic organ prolapse type on sexual function, muscle strength, and pelvic floor symptoms in women: A retrospective study
Objective: This retrospective research was planned to investigate the effect of pelvic organ prolapse (POP) type on sexual function, muscle strength, and pelvic floor symptoms in symptomatic women. Materials and Methods:...