Unexpected death of children with achondroplasia after the perinatal period.
This report describes six cases of achondroplasia, four of whom died unexpectedly in early childhood. Clinical details and pathological findings are reported. Unexpected death seems to be a feature of children with achondroplasia, and appears to be related to brain-stem lesions secondary to deformities of the foramen magnum and posterior fossa.
D000130:Achondroplasia / Q000473:pathology*; D002675:Child, Preschool; D004739:England; D005260:Female; D005539:Foramen Magnum / Q000473:pathology; D006801:Humans; D006849:Hydrocephalus / Q000473:pathology; D007223:Infant; D008168:Lung / Q000473:pathology; D008297:Male; D009336:Necrosis; D012141:Respiratory Tract Infections / Q000473:pathology; D013116:Spinal Cord / Q000473:pathology; D013117:Spinal Cord Compression / Q000473:pathology; D013398:Sudden Infant Death / Q000473:pathology*