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

✍ Scribed by Lapunzina, Pablo ;Musante, Gabriel ;Pedraza, Ana ;Prudent, Luis ;Gadow, Enrique

• Publisher: John Wiley and Sons
• Year: 2001
• Tongue: English
• Weight: 124 KB
• Volume: 102
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1467

✦ Synopsis

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 ®ndings of other serious and previously undescribed malformations, however, raises the possibility of a newly recognized disorder.