Digynic triploidy in a fetus presenting with semilobar holoprosencephaly
نویسندگان
چکیده
منابع مشابه
Semilobar Holoprosencephaly with Congenital Oropharyngeal Stenosis in a Term Neonate
Background Holoprosencephaly (HPE) is often accompanied by a deficit in midline facial development; however, congenital oropharyngeal stenosis in neonates with HPE has not been reported before. We describe a case of a neonate with prenatally diagnosed semilobar HPE accompanied by congenital oropharyngeal stenosis. Case Report The patient was born at 39 weeks of gestation and developed dyspnea s...
متن کاملSemilobar holoprosencephaly seen with diffusion tensor imaging and fiber tracking.
A neonate with semilobar holoprosencephaly was studied with diffusion tensor imaging and fiber tracking. Fiber tracking showed that the frontooccipital fasciculi were in continuity across the ventral midline, interposed between fused caudate and dysplastic fornices. Tractography of the posterior limbs of the internal capsules showed fibers arching ventrally toward the expected location of the m...
متن کاملDigynic triploidy: utility and challenges of noninvasive prenatal testing
Low fraction fetal DNA in noninvasive prenatal testing in the context of fetal growth restriction and multiple congenital anomalies should alert medical professionals to the possibility of digynic triploidy. Single-nucleotide polymorphism microarray can detect the parental origin of triploidy and explain its mechanism.
متن کاملMR angiography of a 1-year-old girl with semilobar holoprosencephaly.
Holoprosencephaly Holoprosencephaly encompasses a variety of brain malformations and is thought to be a result of failure of cleavage of the prosencephalon into the diencephalon and telencephalon and/or stemming from a defect in the normal induction and patterning of the rostral neural tube, which normally occurs in the first 4 weeks after conception. We present a case of semilobar holoprosence...
متن کاملA preterm infant with semilobar holoprosencephaly and hydrocephalus: a case report
INTRODUCTION Holoprosencephaly (HPE) is a rare presentation in newborns. It refers to an incomplete or absent division of the prosencephalon or forebrain into distinct cerebral hemispheres. CASE PRESENTATION A preterm baby girl, first of dizygotic twins, born at 26 weeks of gestation to a 45 year old mother, was prenatally diagnosed with ventriculomegaly on fetal ultrasonogram. At birth the b...
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ژورنال
عنوان ژورنال: Taiwanese Journal of Obstetrics and Gynecology
سال: 2018
ISSN: 1028-4559
DOI: 10.1016/j.tjog.2018.11.001