Prenatal diagnosis of hypochondrogenesis using fetal MRI: a case report

Abstract.

We describe the successful prenatal diagnosis of hypochondrogenesis by MRI. Fetal MR findings were the presence of a conspicuous cartilaginous structure in the basioccipital region, ill-defined ossification of the cervical vertebral bodies, hypoplastic thorax, retarded ossification of the pubic bones, and broad, short long bones. In contrast, fetal US revealed only the presence of short long bones. MRI accurately delineated the axial skeleton in this case and is an effective clinical tool for diagnosing skeletal dysplasias in utero.