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Report on prenatal sonographic diagnosis of osteogenesis imperfecta of the classical type Ekman Lobstein (osteopsathyrosis) in the 35th week of pregnancy. We could demonstrate the marked penetration of ultrasound through the characteristically very thin long bones even before the occurrence of fractures. Difficulties in attributing our case to one of the four groups of osteogenesis imperfecta according to Sillence are discussed, as well as the obstetrical management of these prenatally diagnosed cases.

Two newborn infants with fetal akinesia sequence were noted to have multiple perinatal fractures of the long bones. The radiographic manifestations are characterized by gracile ribs, thin long bones, and multiple diaphyseal fractures. Consistent histopathologic changes of bone are irregular with focal areas of extreme diaphyseal thinning, thin and long marrow spicules, and with or without callous formation at fracture sites. Pathogenic mechanisms of bone fractures in fetal akinesia sequence and the differential diagnoses of congenital/perinatal bone fractures are discussed.

Three newborns with thin ribs and thin long bones with multiple fractures are reported. Whereas one patient presents a syndromic association of bone dysplasia and intrauterine dwarfism two other patients cannot be appropriately evaluated due to lack of basic clinical and pathologic data.