We have read with great interest the Clinical Report by Grosso et al. [2004], on a patient with craniofacial dyssynostosis (CFD), emphasizing two new findings previously unreported (hydronephrosis and partial empty sella turcica) and discussing central nervous system involvement in CFD. We have recently described the first four known Spanish cases with CFD [Bermejo et al., 2005], in whom some features were also reported for the first time. In our paper, we reviewed and discussed phenotypic variability in the syndrome and several aspects for the anticipatory guidance of affected individuals. To these respects, we would like to underline some points, after considering the case described by Grosso et al. [2004] together with our four patients and the nine previously published [Neuha ¨user et al., 1976;Al-Torki et al., 1998;Morton, 1998].
CFD was initially considered as a ''new type of craniosynostosis/cranio-facial dysostosis and shortness of stature'' [Neuha ¨user et al., 1976]. Grosso et al. [2004] have added two new findings to the spectrum of manifestations of CFD. This supports two of our conclusions [Bermejo et al., 2005]. First, CFD seems to be a multiple congenital anomaly/mental retardation (MCA/MR) syndrome. Second, CFD shows a wide range of phenotypic variability, as also suggested by Al-Torki et al. [1998]. In this sense, it is important to recall that the first report on CFD [Neuha ¨user et al., 1976] was nearly three decades ago. We agree with Grosso et al. [2004] that the types of studies for further investigation today were not available in 1976. Therefore, at present, one can expect some ''unusual'' or even ''previously undescribed'' findings in CFD (as well as for most of the clinical patterns), just as a consequence of the easier access to more complex high resolution imaging techniques. This could be the case for the defects found by Grosso et al. [2004]: the partially empty sella turcica, with a diminished pituitary gland and arachnoid herniation into the sella, that were evidenced through MRI, and even for hydronephrosis. This applies also for horseshoe kidney, which was found in one of our patients for the first time. These findings lead us to now conclude that renal defects or alterations of the urinary tract could be more frequent in CFD than previously considered and, therefore, it could be advisable to add an abdominal ultrasonography to the list of studies that are indicated for the management of patients with the syndrome, as well as for further delineation of the phenotype of CFD.