Holoprosencephaly and primary craniosynostosis: the Genoa syndrome.

Abstract

We report on 2 sibs with holoprosencephaly of the semilobar type, unusual facial appearance not diagnostic of holoprosencephaly, and primary craniosynotosis involving the coronal and lambdoid sutures. The condition represents a newly recognized syndrome, possibly having autosomal recessive inheritance.

• Authors: G Camera, M Lituania, M M Cohen Jr
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 47 Issue 8 Pg. 1161-5 (Dec 01 1993) ISSN: 0148-7299 [Print] United States
• PMID: 8291548 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (diagnostic imaging, genetics)
• Craniosynostoses (diagnostic imaging, genetics)
• Female
• Fetus (abnormalities)
• Hand Deformities, Congenital (diagnostic imaging, genetics)
• Holoprosencephaly (diagnostic imaging, genetics)
• Humans
• Infant, Newborn
• Syndrome
• Tomography, X-Ray Computed
• Ultrasonography