Lethal neonatal dwarfism characterized by microcephaly, cortical hyperostosis, and multiple vital organ malformations.
Dysplastic Cortical Hyperostosis Syndrome.
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.
Other condition to be considered
Koslowski’s Syndrome (Kozlowski’s Spondylometaphyseal Dysplasia Syndrome; Koslowsky’s Type of Chondrodysplasia; Koslowski-Maroteaux-Spranger Syndrome): Medical condition characterized by dwarfism, especially associated with a very short growth of the trunk. Other features include waddling gait in early childhood, limited joint mobility, kyphoscoliosis, pectus carinatum, bowed legs, irregular metaphyses, and occasional hyperopia and genua valga. The optimal adult height is established at 130 to 165 cm. Radiographic findings show platyspondyly, broad and short basilar parts of the iliac. Inheritance is autosomal dominant. Dr Kazimierz S. Koslowski is a pediatric radiologist, born in 1928 in Poznan, Poland. He received his degree in medicine at the University of Poznan in 1952. He studied radiology in 1958 with a Rockefeller Foundation Fellowship and worked in pediatric radiology under professor John P. Caffey (1895-1978) at Columbia University, New York. He obtained his doctorate in 1963 and qualified as a lecturer (docent) at Warsaw Medical School in 1965. He has contributed extensively with his colleagues to the description of numerous medical conditions, helping to advance care for the affected patients.
T: Dysplastic cortical hyperostosis: A new form of lethal neonatal dwarfism. Br J Radiol