title: Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome.
abstract: We report on clinical and molecular findings of two brothers that both presented with sagittal craniosynostosis, hydrocephalus, Chiari I malformation, blepharophimosis, small low-set ears, hypoplastic philtrum, radioulnar synostosis, kidney malformation, and hypogenitalism. Their father presented mild brachydactyly. Conventional cytogenetic and array CGH screening did not show any chromosomal gains or losses. Furthermore, molecular genetic screening of genes involved in different craniosynostosis syndromes, namely FGFR1, FGFR2, FGFR3, TWIST, RECQL4, and POR genes failed to detect any mutations in genomic DNA. The unique range of clinical manifestations in these two patients and the negative findings of the molecular genetic screening suggest the hypothesis of a previously unrecognized syndrome.
authors.affiliation: UO Neurochirurgia, Istituto G. Gaslini, 16148 Genova, Italy. valeriacapra@ospedale-gaslini.ge.it
authors.forename: Valeria
authors.initials: V
authors.lastname: Capra
authors.forename: Patrizia
authors.initials: P
authors.lastname: De Marco
authors.forename: Elisa
authors.initials: E
authors.lastname: Merello
authors.forename: Ave Maria
authors.initials: AM
authors.lastname: Baffico
authors.forename: Maurizia
authors.initials: M
authors.lastname: Baldi
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Divizia
authors.forename: Stefania
authors.initials: S
authors.lastname: Gimelli
authors.forename: Delphine
authors.initials: D
authors.lastname: Mallet
authors.forename: Alessandro
authors.initials: A
authors.lastname: Raso
authors.forename: Samantha
authors.initials: S
authors.lastname: Mascelli
authors.forename: Paolo
authors.initials: P
authors.lastname: Tomà
authors.forename: Andrea
authors.initials: A
authors.lastname: Rossi
authors.forename: Marco
authors.initials: M
authors.lastname: Pavanello
authors.forename: Armando
authors.initials: A
authors.lastname: Cama
authors.forename: Cinzia
authors.initials: C
authors.lastname: Magnani
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D003398:Craniosynostoses; D020732:Cytogenetic Analysis; D004252:DNA Mutational Analysis; D015894:Genome, Human / Q000235:genetics; D006801:Humans; D006849:Hydrocephalus; D007223:Infant; D008297:Male; D035781:Siblings; D013577:Syndrome; D013580:Synostosis; D014457:Ulna