Semilobar holoprosencephaly, coronal craniosynostosis, and multiple congenital anomalies: a severe expression of the Genoa syndrome or a newly recognized syndrome?

Am J Med Genet. 2001 Aug 15;102(3):258-60. doi: 10.1002/ajmg.1467.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Craniosynostoses / pathology*
  • Diagnosis, Differential
  • Female
  • Hand Deformities, Congenital / pathology
  • Holoprosencephaly / pathology*
  • Humans
  • Infant, Newborn
  • Syndrome