Fontaine-Farriaux craniosynostosis: Second report in the literature

Craniosynostosis is determined by the precocious fusion of one or more calv arial sutures leading to an abnormal skull shape. Additionally, nodular het erotopia is a disorder of neuronal migration and/or proliferation, We descr ibe a very rare multiple congenital anomalies (RICA) syndrome in which cran iosynostosis is associated with bilateral periventricular nodular heterotop ia (BPNH) of the gray matter and other malformations involving hands, feet, and the gut. Clinical findings and further investigations suggest the diag nosis of craniosynostosis Fontaine-Farriaux type. To the best of our knowle dge, this case is only the second report of this MCA syndrome. Based on the clinical and radiological data of the two cases reported, we hypothesize t hat this malformative complex may be considered a new BPNH/MCA syndrome and propose to classify it as BPNH/craniosynostosis. Previous studies demonstr ated that at least two BPNH/MCA syndromes have been mapped to the Xq28 chro mosomal region in which a causative gene for isolated BPNH is located. The same authors hypothesized that other BPNH syndromes could be due to micro-r earrangements at the same Xq28 region. Our case presents several overlappin g features with some BPNH/MCA syndromes and it is possible that this new co mplex disorder may be caused by rearrangements at the same chromosomal regi on that could alter expression of different genes in Xq28. (C) 2001 Wiley-L iss, Inc.