학술논문
Prenatal detection of Peters plus-like syndrome/Peters-plus benzeri sendromun prenatal tanisi
Case Report / Olgu Sunumu
Case Report / Olgu Sunumu
Document Type
Clinical report
Source
Turkish Journal of Obstetrics and Gynecology. December 2018, Vol. 15 Issue 4, p273, 4 p.
Subject
Language
English
ISSN
2149-9322
Abstract
Introduction Peters' anomaly is a rare congenital ocular anomaly caused by defective dysgenesis and cleavage of the anterior chamber of the eye causing central corneal opacity (leukoma), absence of the [...]
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. Keywords: Peters anomaly, Peters plus syndrome, prenatal diagnosis, congenital cataract, B3GALTL gene Oz Peters-plus sendromu, klasik Peters anomalisinin okuler anterior segment defektlerini iceren ve cogunlukla kraniyofasiyal ve iskelet defektleri ile iliskili nadir gorulen bir konjenital bozukluktur. Yirmi bir haftalik bir fetus, fetal hidrosefali suphesi nedeniyle ileri tetkik icin sevk edilmistir. Ultrasonografk degerlendirmede, hiperekojen lensler, mikroftalmi, hipotelorizm, retrognati, haff ventrikulomegali, cavum septum pellucidum yoklugu ve boy kisaligi izlendi. Amniyosentez ve ileri mikroarray incelemesi, gen B3GALTL de dahil olmak uzere normal kromozomal kopya sayilarini tespit etti. Yirmi ucuncu gebelik haftasinda fetal olum gerceklesti. Ultrason ve fetal otopsi bulgulari Peters-plus sendromuna isaret etmekteydi, fakat B3GALTL gen mutasyonunun olmamasi Peters-plus benzeri bir sendromun tanisini koydurdu. Okuler anomalilerin prenatal tespiti durumunda beraberinde kraniofasiyal ve iskelet anomalilerinin bulunmasi ve B3GALTL gen mutasyonu bulunmayan durumlarda, obstetrisyenler Peters-plus benzeri sendromu hatirlamalidirlar. Anahtar Kelimeler: Peters anomalisi, Peters-plus sendromu, prenatal tani, konjenital katarakt, B3GALTL geni
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. Keywords: Peters anomaly, Peters plus syndrome, prenatal diagnosis, congenital cataract, B3GALTL gene Oz Peters-plus sendromu, klasik Peters anomalisinin okuler anterior segment defektlerini iceren ve cogunlukla kraniyofasiyal ve iskelet defektleri ile iliskili nadir gorulen bir konjenital bozukluktur. Yirmi bir haftalik bir fetus, fetal hidrosefali suphesi nedeniyle ileri tetkik icin sevk edilmistir. Ultrasonografk degerlendirmede, hiperekojen lensler, mikroftalmi, hipotelorizm, retrognati, haff ventrikulomegali, cavum septum pellucidum yoklugu ve boy kisaligi izlendi. Amniyosentez ve ileri mikroarray incelemesi, gen B3GALTL de dahil olmak uzere normal kromozomal kopya sayilarini tespit etti. Yirmi ucuncu gebelik haftasinda fetal olum gerceklesti. Ultrason ve fetal otopsi bulgulari Peters-plus sendromuna isaret etmekteydi, fakat B3GALTL gen mutasyonunun olmamasi Peters-plus benzeri bir sendromun tanisini koydurdu. Okuler anomalilerin prenatal tespiti durumunda beraberinde kraniofasiyal ve iskelet anomalilerinin bulunmasi ve B3GALTL gen mutasyonu bulunmayan durumlarda, obstetrisyenler Peters-plus benzeri sendromu hatirlamalidirlar. Anahtar Kelimeler: Peters anomalisi, Peters-plus sendromu, prenatal tani, konjenital katarakt, B3GALTL geni