Brief Clinical Report
Semilobar holoprosencephaly, coronal craniosynostosis, and multiple congenital anomalies: A severe expression of the Genoa syndrome or a newly recognized syndrome?
Article first published online: 20 JUN 2001
Copyright © 2001 Wiley-Liss, Inc.
American Journal of Medical Genetics
Volume 102, Issue 3, pages 258–260, 15 August 2001
How to Cite
Lapunzina, P., Musante, G., Pedraza, A., Prudent, L. and Gadow, E. (2001), Semilobar holoprosencephaly, coronal craniosynostosis, and multiple congenital anomalies: A severe expression of the Genoa syndrome or a newly recognized syndrome?. Am. J. Med. Genet., 102: 258–260. doi: 10.1002/ajmg.1467
- Issue published online: 26 JUL 2001
- Article first published online: 20 JUN 2001
- Manuscript Accepted: 26 APR 2001
- Manuscript Received: 9 MAY 2000
- Genoa syndrome;
- Dandy Walker malformation;
- aortic coarctation;
- cleft soft palate;
- new syndrome;
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.