New form of bone dysplasia with multiple fractures associated with monosomy X

Abstract

We report on the clinical, radiologic, and pathologic findings in a 20-week-old fetus with monosomy X and severe hydrops associated with fetal dwarfism. The fetus presented with osteoporosis, bent bones, multiple fractures, and distinctive symmetric submetaphyseal transverse bone interruptions or pseudofractures. We excluded by radiologic and histopathologic examination the diagnoses of osteogenesis imperfecta, hypophosphatasia, campomelic dysplasia, achondrogenesis, hypochondrogenesis, and other types of bone dysplasia. To our knowledge, this is a previously undescribed bone dysplasia associated with monosomy X. This bone dysplasia may be inherited as an X-linked recessive disorder.