title: Enlarged cerebral ventricular system in infant achondroplastic dwarf.
abstract: The cause of the enlarged head found in achondroplastic dwarfs has been disputed. We studied an infant achondroplastic dwarf who had an enlarged (90%) head at age 2 months without enlarged cerebral ventricles. At age 10 months, her head size further enlarged (95%) and the cerebral ventricles were dilated. Megalencephaly may be the major factor contributing to the enlarged head in newborn achondroplastic dwarfs. Later, enlarged cerebral ventricles also contribute.
mesh_terms: D000130:Achondroplasia / Q000175:diagnosis*; D002552:Cerebral Ventricles / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D014057:Tomography, X-Ray Computed