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.
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: Probably a new syndrome / Valeria Capra ; Patrizia De Marco; Elisa Merello; Ave Maria Baffico; Maurizia Baldi;Maria Teresa Divizia; Stefania Gimelli; Delphine Mallet; Alessandro Raso; Samantha Mascelli;Paolo Toma`; Andrea Rossi ; Marco Pavanello; Armando Cama;Cinzia Magnani. - In: EUROPEAN JOURNAL OF MEDICAL GENETICS. - ISSN 1769-7212. - 52(2009), pp. 17-22. [10.1016/j.ejmg.2008.10.005]