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CC BY-NC-ND 4.0 · AJP Rep 2020; 10(03): e294-e299
DOI: 10.1055/s-0040-1716742
Case Report

Fetal Macrocephaly: A Novel Sonographic Finding in Congenital Myotonic Dystrophy

Shiri Shinar 
1   Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Ontario Fetal Centre, University of Toronto, Mount Sinai Hospital, Toronto, Ontario, Canada
,
Parry Balakumar
2   Undergraduate school, McGill University, Montreal, Quebec, Canada
,
Vibhuti Shah
3   Department of Paediatrics, Mount Sinai Hospital, Toronto, Ontario, Canada
,
Karen Chong
4   Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, University of Toronto, Mount Sinai Hospital, Toronto, Ontario, Canada
,
Tami Uster
4   Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, University of Toronto, Mount Sinai Hospital, Toronto, Ontario, Canada
,
David Chitayat
4   Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, University of Toronto, Mount Sinai Hospital, Toronto, Ontario, Canada
5   Division of Clinical Genetics and Metabolism, Department of Pediatrics, University of Toronto, The Hospital for Sickkids, Toronto, Ontario, Canada
› Author Affiliations Funding This research was nonfunded.
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Abstract

Objective Sonographic clues to the diagnosis of congenital myotonic dystrophy (CDM) are limited, particularly in the absence of family history of myotonic dystrophy (DM). We reviewed cases of CDM for unique prenatal findings.

Study Design A single-center case series of fetuses with CMD with characteristic prenatal findings confirmed postnatally.

Results Four fetuses with pre- or postnatally diagnosed CDM presented with macrocephaly in utero. While head measurements were appropriate for gestational age until midgestation, third-trimester head circumference and biparietal diameter were both >2 standard deviation (SD) above the mean in all. Abdominal and femur measurements were otherwise appropriate for gestation. Postnatally, the occipitofrontal circumference was >2 SD above the mean in all, confirming the diagnosis of macrocephaly.

Conclusion CDM should be included in the differential diagnosis of third-trimester macrocephaly, especially in the presence of additional sonographic clues and when maternal medical history and physical examination are suggestive of DM.

Keywords

congenital myotonic dystrophy - CDM - macrocephaly - DM1 - fetal

Data Availability Statement

The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.




Publication History

Received: 21 April 2020

Accepted: 04 June 2020

Article published online:
23 September 2020

© .

Thieme Medical Publishers
333 Seventh Avenue, New York, NY 10001, USA.

 

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