Prenatal Diagnosis of Alobar Holoprosencephaly, Cyclopia, Proboscis, and Isochromosome 18q in the Second Trimester
نویسندگان
چکیده
We would like to present a rare case of alobar holoprosencephaly (HPE) in a fetus diagnosed by routine sonography in the second trimester. Structural sonography demonstrated multiple facial anomalies including absent nasal bone, flat facial profile, hypotelorism, fusion of the orbits and proboscis. After counseling, termination of pregnancy was performed by vaginally administered misoprostol. Karyotyping of amniotic fluid cells revealed an isochromosome 18q, resulting in a trisomy 18q and monosomy 18p. A stillborn female of 390 g with several congenital anomalies was born. Postmortem examination demonstrated several anomalies including the HPE, cyclopia, double fused eye, absence of the nose, and the presence of a proboscis. In the literature only a few cases have been published.
منابع مشابه
Alobar holoprosencephaly, proboscis and cyclopia in a chromosomally normal fetus: Prenatal diagnosis and fetal outcome.
Holoprosencephaly is a brain malformation that develops as a result of a defect in development of prosencephalon during early gestation. Holoprosencephaly can be diagnosed with prenatal ultrasonography and magnetic resonance imaging. We report herein a case with cyclopia and holoprosencephaly detected by prenatal ultrasonography.
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We report on the ultrasound (US) detection of holoprosencephaly with cyclopia at a gestational age of 16 weeks. The sonographic diagnosis was based on the intracranial finding of fused thalami with no visible midline structures and facial abnormalities, including cyclopia and proboscis. We evaluated the fetal face by 3-dimensional (3D) transabdominal US and were able to identify the cyclopia be...
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INTRODUCTION Cyclopia (alobar holoprosencephaly) (OMIM% 236100) is a rare and lethal complex human malformation, resulting from incomplete cleavage of prosencephalon into right and left hemispheres occurring between the 18th and the 28th day of gestation. Holoprosencephaly occurs in 1/16,000 live births, and 1/250 during embryogenesis. Approximately 1.05 in 100,000 births are identified as infa...
متن کاملPrenatal diagnosis and molecular cytogenetic characterization of a derivative chromosome der(18;18)(q10;q10)del(18)(q11.1q12.1)del(18)(q22.1q22.3) presenting as apparent isochromosome 18q in a fetus with holoprosencephaly.
OBJECTIVE To present prenatal diagnosis and molecular cytogenetic characterization of a derivative chromosome der(18;18)(q10;q10)del(18)(q11.1q12.1)del(18)(q22.1q22.3). MATERIALS, METHODS, AND RESULTS A 32-year-old woman was referred for genetic counseling of prenatally detected isochromosome 18q [i(18q)]. She had undergone amniocentesis at 19 gestational weeks because of a trisomy 18 risk of...
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Holoprosencephaly is a rare malformation encountered in newborns. It refers to the absent or incomplete division of the prosencephalon.Case no. 1: a fetus was diagnosed by ultrasonogram at 29 weeks of gestation with alobar holoprosencephaly, proboscis and cyclopia. The premature infant was delivered by cesarean section at 32 weeks of gestation, confirming antenatal diagnosis.Case no. 2: a prema...
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