Canada

This is  32-year-old patient who delivered, 4 years earlier, a child with the autosomal recessive form of Osteopetrosis (#259700). That child presented within the first few months of life with hepatosplenomegaly and died at age 3 of from serious septicemia. The family history included numerous miscarriages in her mother from an unknown ailment with no significant history on the father"s side.

The patient was pregnant 2 years later and a first trimester scan (12 weeks 5 days) was performed to assess bone mineralization and nuchal translucency. The nuchal translucency was normal but cranium, mandible and long bones were very echogenic. No fractures were demonstrated in utero, but we presumed that this was osteopetrosis. The patient requested and had a termination of pregnancy. Unfortunately the tissue was too fragmented to accurately assess after the termination.

The following are images of the skull, pelvis and arm.