Dysplastic cortical hyperostosis (Kozlowski-Tsuruta syndrome): report of a second case

We report a fetus from a pregnancy that was terminated at 26 weeks gestation for hydrops and short limb skeletal dysplasia. The parents were first cousins. Post mortem examination showed pulmonary hypoplasia and hepatomegaly. The radiographs showed shortening and cortical thickening of all long bones. The cortical thickening was most marked in the long bones, ribs, clavicles and scapulae but spared the skull vault, facial bones and pelvis. There were coronal clefts in the lower lumbar vertebrae. The clinical and radiological features of this fetus conform to those reported in a stillborn male by Kozlowski and Tsuruta in 1989 (Br J Radiol 62:376-378). This is the second reported case of this condition and confirms that it is a distinct and recognisable, lethal skeletal dysplasia. The parental consanguinity in our patient suggests that this condition may be inherited in an autosomal recessive manner.