SEARCH

SEARCH BY CITATION

Keywords:

  • Genoa syndrome;
  • holoprosencephaly;
  • craniosynostosis;
  • Dandy Walker malformation;
  • aortic coarctation;
  • cleft soft palate;
  • new syndrome;
  • scoliosis

Abstract

We report on a female newborn with holoprosencephaly, craniosynostosis, and multiple congenital anomalies including cloverleaf skull, Dandy-Walker malformation, bilateral microphthalmia, cleft soft palate, congenital scoliosis, hypoplastic nails and coarctation of aorta. Some of these features are consistent with the diagnosis of the Genoa syndrome, (MIM 601370) a rare autosomal recessive disorder recently described. The findings of other serious and previously undescribed malformations, however, raises the possibility of a newly recognized disorder. © 2001 Wiley-Liss, Inc.