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

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.

• Authors: P Lapunzina, G Musante, A Pedraza, L Prudent, E Gadow
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 102 Issue 3 Pg. 258-60 (Aug 15 2001) ISSN: 0148-7299 [Print] United States
• PMID: 11484203 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2001 Wiley-Liss, Inc.

Topics

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