Dysplastic cortical hyperostosis: a new form of lethal neonatal dwarfism

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Abstract
A new form of lethal neonatal dwarfism is reported. The name of dysplastic cortical hyperostosis is proposed for this entity. A Japanese, stillborn, male infant was delivered by a 28-year-old mother by a caesarean section after 28 weeks gestation. The pregnancy was complicated by polyhydramnios (2000 ml). The mother was not exposed to any teratogenic agent. There was no parental consanguinity nor was there a family history of short stature or bone disease. No details of the father's age or the number of siblings were available. At autopsy, it was found that the infant weighed 2900 g, crown-heel length was 37.7 cm and head circumference 37.4 cm. There was shortening of both the trunk and extremities and there was considerable oedema (Fig. 1). The lungs were hypoplastic (left 2.7 g, right 3.0 g) with incomplete lobulation of the right lung. The cerebral sulci were poorly developed (? lissencephaly). There was complete renal duplication on the left and the orifice of the right coronary artery was high in position. Hepatosplenomegaly was noted. The most striking radiographic finding was the generalized, symmetrical cortical thickening throughout the skeleton. This was most marked in the long bones and ribs, where the cortical thickening was wavy in outline. The medullary cavity was markedly narrowed. Similar sclerosis was seen in the clavicles and scapulae. The metacarpals and metatarsals had milder cortical sclerosis but in addition showed proximal tapering of the bones.

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