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

We report on a female newborn with holoprosencephaly, craniosynostosis, and multiple congenital anomalies including cloverleaf skull, Dandy-Walker mal formation, bilateral microphthalmia, cleft soft palate, congenital scoliosi s, hypoplastic nails and coaretation of aorta. Some of these features are c onsistent with the diagnosis of the Genoa syndrome, (MIM 601370) a rare aut osomal recessive disorder recently described. The findings of other serious and previously undescribed malformations, however, raises the possibility of a newly recognized disorder. (C) 2001 Wiley-Liss, Inc.