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

We describe here a female infant, exhibiting lethal short‐limbed dwarfism. The condition superficially resembled achondrogenesis. However, 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. It is therefore suggested that this constellation of anomalies constitutes a “new” lethal syndrome, different from the delineated chondrodysplasias.