This is the case of a male newborn with holoprosencephaly, marked hypotelorism, and a rudimentary nasal structure, the proboscis. The head CT scan showed a single monoventricle and two ocular globes fused at the midline. Chromosome studies showed a normal karyotype. The importance of ultrasonography in the prenatal diagnosis of this malformation is presented.
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http://dx.doi.org/10.1159/000291893 | DOI Listing |
Pediatr Radiol
December 2024
Sivas Cumhuriyet University Faculty of Medicine, Department of Radiology, Sivas, Turkey.
Cureus
February 2023
Radiology, Vydehi Institute of Medical Sciences and Research Centre, Bengaluru, IND.
We present a case of holoprosencephaly (HPE) with cyclopia and proboscis. The mother was a 35-year-old, G1P1 with no known comorbid conditions, not in a consanguineous marriage, and with no history of illicit drug use. On a routine antenatal ultrasound scan, features of alobar HPE, proboscis, and other anomalies were identified.
View Article and Find Full Text PDFCureus
February 2023
Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kota Bharu, MYS.
Pericentric inversion of chromosome 9 (inv(9)) is one of the most common variants seen in a normal human karyotype that occurs during meiosis. Despite being categorized as a normal variant, some studies using classical cytogenetics have recently shown that inv(9) could be associated with azoospermia, congenital anomalies, growth retardation, and rarely with abnormal karyotype. However, there is no reported association with cyclopia.
View Article and Find Full Text PDFInt J Surg Case Rep
April 2022
Department of Otorhinolaryngology, Kilimanjaro Christian Medical Centre, Tanzania; Faculty of Medicine, Kilimanjaro Christian Medical University College, Tanzania. Electronic address:
Introduction And Importance: Holoprosencephaly is a rare brain malformation consisting of impaired midline cleavage of the embryonic forebrain presenting with variable features of craniofacial dysmorphism. It affects 1 in 10,000 live births occurring more in females than males. We present a case of alobar HPE and aim to raise awareness on the importance of early prenatal detection and counselling.
View Article and Find Full Text PDFInt J Surg Case Rep
November 2021
Department of Medical-Surgical Nursing, School of Nursing and Midwifery, Urmia University of Medical Sciences, Urmia, Iran.
Introduction And Importance: Cyclopia is a rare congenital disorder characterized by facial abnormalities. In this condition, the orbits of the eye are not properly divided into two cavities so that they can be seen either as a single eye field or two bilateral fields that are very close to each other. This syndrome affects the embryos that are either aborted or stillborn upon delivery or, at best, die shortly after birth.
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