Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome.
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.
Capra
Valeria
V
UO Neurochirurgia, Istituto G. Gaslini, 16148 Genova, Italy. valeriacapra@ospedale-gaslini.ge.it
De Marco
Patrizia
P
Merello
Elisa
E
Baffico
Ave Maria
AM
Baldi
Maurizia
M
Divizia
Maria Teresa
MT
Gimelli
Stefania
S
Mallet
Delphine
D
Raso
Alessandro
A
Mascelli
Samantha
S
Tomà
Paolo
P
Rossi
Andrea
A
Pavanello
Marco
M
Cama
Armando
A
Magnani
Cinzia
C
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