Warning: The NCBI web site requires JavaScript to function. more...
Generate a file for use with external citation management software.
Department of Pediatrics, Saint Francis Hospital and Medical Center, Hartford, CT 06105-1299.
The muscle biopsy results from 14 children with macrocephaly and hypotonia/weakness were correlated with clinical findings compatible with any of the autosomal dominant macrocephaly syndromes. Thirteen of the 14 had evidence of lipid storage myopathy, either generalised or focal. All 13 had examinations consistent with either benign familial macrocephaly, Ruvalcaba-Myhre-Smith syndrome, or Bannayan-Zonana syndrome. These results suggest that all three of these disorders may represent phenotypic variability at a single genetic locus.
Your browsing activity is empty.
Activity recording is turned off.
Turn recording back on