title: 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.affiliation: ECLAMC, (Latin American Collaborative Study of Congenital Malformations), Clínica y Maternidad Suizo Argentina, Buenos Aires, Argentina. lapunzina@intramed.net.ar
authors.forename: P
authors.initials: P
authors.lastname: Lapunzina
authors.forename: G
authors.initials: G
authors.lastname: Musante
authors.forename: A
authors.initials: A
authors.lastname: Pedraza
authors.forename: L
authors.initials: L
authors.lastname: Prudent
authors.forename: E
authors.initials: E
authors.lastname: Gadow
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D003398:Craniosynostoses / Q000473:pathology*; D003937:Diagnosis, Differential; D005260:Female; D006228:Hand Deformities, Congenital / Q000473:pathology; D016142:Holoprosencephaly / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome