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Prenatal ultrasonic features in a rare case of congenital ichthyosis (harlequin fetus)

Prenatal ultrasonic features in a rare case of congenital ichthyosis (harlequin fetus) Israel Meizner, MD The term harlequin fetus refers to a severe and dramatic form of congenital ichthyosis. Whereas mild and moderately severe forms of ichthyosis are relatively common disorders, the harlequin fetus represents a rare condition with less than 100 cases described in the world's literature.' The prenatal sonographic diagnosis of the disorder has been previously reported only once.2 We report another case where some of the remarkable ultrasonic markers of congenital ichthyosis, not described before, pointed to the possible existence of this pathology. CASE REPORT A 32-year-old Bedouin woman, gravida 6, para 5, was sent for a ultrasonic scan because of reduced fetal movements at 31 weeks, menstrual age. Her prior medical history was uneventful, and five previous 38-week to 40-week gestations had ended in the delivery of healthy infants weighing between 2.8 kg and 3.6 kg. During her present pregnancy the patient attended the antenatal clinic only once, at 13 weeks. On ultrasound examination a single fetus, in vertex presentation, was observed. No fetal movements were detected during an observation period of 30 minutes. Normal internal viscera were noted. The hands and legs appeared swollen, but not to a measurable degree. All biometric measurements corresponded perfectly http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Clinical Ultrasound Wiley

Prenatal ultrasonic features in a rare case of congenital ichthyosis (harlequin fetus)

Meizner, Israel
Journal of Clinical Ultrasound , Volume 20 (2) – Feb 1, 1992
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References (6)

Publisher
Wiley
Copyright
Copyright © 1992 Wiley Periodicals, Inc., A Wiley Company
ISSN
0091-2751
eISSN
1097-0096
DOI
10.1002/jcu.1870200209
Publisher site
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Abstract

Israel Meizner, MD The term harlequin fetus refers to a severe and dramatic form of congenital ichthyosis. Whereas mild and moderately severe forms of ichthyosis are relatively common disorders, the harlequin fetus represents a rare condition with less than 100 cases described in the world's literature.' The prenatal sonographic diagnosis of the disorder has been previously reported only once.2 We report another case where some of the remarkable ultrasonic markers of congenital ichthyosis, not described before, pointed to the possible existence of this pathology. CASE REPORT A 32-year-old Bedouin woman, gravida 6, para 5, was sent for a ultrasonic scan because of reduced fetal movements at 31 weeks, menstrual age. Her prior medical history was uneventful, and five previous 38-week to 40-week gestations had ended in the delivery of healthy infants weighing between 2.8 kg and 3.6 kg. During her present pregnancy the patient attended the antenatal clinic only once, at 13 weeks. On ultrasound examination a single fetus, in vertex presentation, was observed. No fetal movements were detected during an observation period of 30 minutes. Normal internal viscera were noted. The hands and legs appeared swollen, but not to a measurable degree. All biometric measurements corresponded perfectly

Journal

Journal of Clinical Ultrasound – Wiley

Published: Feb 1, 1992

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