A new lethal chondrodysplasia with spondylocostal dysostosis, multiple internal anomalies and Dandy‐Walker cyst

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Abstract
A female infant is described exhibiting lethal short-limbed dwarfism. The condition superficially resembled achondrogenesis. Unlike achondrogenesis there was an associated severe spondylocostal dysostosis and major non-skeletal anomalies, particularly a cerebellar Dandy-Walker cyst, cardiovascular and urogenital malformations. The chondro-osseous morphology was nonspecific. The case is believed to be unique. This constellation of anomalies may constitute a new lethal syndrome, different from the delineated chondrodysplasias.

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