Presentation Time: 0915-0930

Suzy E. Kosteniuk 1, Kristopher D. Langdon 1. Christopher Dunham 2, 3, Sumit Das 4

  1. Department of Pathology and Laboratory Medicine, University of Calgary, Calgary, AB, Canada
  2. Division of Anatomic Pathology, British Columbia Children’s Hospital, Vancouver, BC, Canada
  3. Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada
  4. Department of Laboratory Medicine and Pathology (Neuropathology), University of Alberta and Stollery Children’s Hospital, Edmonton, AB, Canada


Case 2: A missing piece

The patient is a female fetus of 23 weeks and 6 days gestational age. The mother is 26-year-old primigravid woman. The parents of the fetus are non-consanguineous, and neither have a family history of congenital anomalies, stillbirths, recurrent miscarriages, or intellectual disability. This pregnancy was unplanned, and occurred while the mother was taking hormonal contraception. The pregnancy was unrecognized until 16 weeks gestational age. Ultrasound examination at 20 gestational weeks demonstrated a head circumference 3.8 standard deviations below the mean of normal, while cerebellar size was 4.8 standard deviations below the mean. The pregnancy was terminated due to the finding of microcephaly. General autopsy revealed a female fetus of appropriate size for gestation age, with microcephaly (brain weight of 27 grams; expected brain weight at 24 gestation weeks, 97 +/- 15 grams) and pre-axial polydactyly.


What is the diagnosis?

Submitted Materials

One gross image

One slide

Reveal Diagnosis

To be added after the meeting.