Fetal Macrocephaly: A Novel Sonographic Finding in Congenital Myotonic Dystrophy

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.