Lethal neonatal dwarfism characterized by
microcephaly, cortical hyperostosis, and multiple vital organ malformations.
Dysplastic Cortical Hyperostosis.
One reported case of a stillborn
infant of 28 weeks' gestational age. The mode of inheritance, if any, is unknown.
Microcephaly with poor cerebral sulci
development, normal-size mandible, but small
mouth opening, severe facial edema, hypoplastic lungs, left renal duplication,
high position of the right coronary
artery orifice, hepatosplenomegaly, generalized, symmetrical cortical bone
thickening with shortened tubular bones, and poorly developed vertebral bodies.
Lethal disease with intrauterine death.
Kozlowski K, Tsuruta T: Dysplastic cortical hyperostosis: A new form of
lethal neonatal dwarfism. Br J Radiol