Kozlowski-Tsuruta-Taki Syndrome

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.