CHARGE SYNDROME - REPORT OF 47 CASES AND REVIEW

The acronym CHARGE refers to a syndrome of unknown cause. Here we repo rt on 47 CHARGE patients evaluated for the frequency of major anomalie s, namely coloboma (79%), heart malformation (85%), choanal atresia (5 7%), growth and/or mental retardation (100%), genital anomalies (34%), ear anomalies (91%), and/or deafness (62%). In addition, we comment o n anomalies observed very frequently in neonates and infants with the CHARGE syndrome, including, minor facial anomalies, neonatal brain ste m dysfunction with cranial nerve palsy, and, mostly, internal ear anom alies such as semicircular canal hypoplasia that were found in each pa tient that could be tested. We propose several criteria for poor survi val including male gender, central nervous system and/or oesophageal m alformations, and bilateral choanal atresia. No predictive factor rega rding developmental prognosis could be identified in our series. A sig nificantly higher mean paternal age at conception together with concor dance in monozygotic twins and the existence of rare familial cases su pport the role of genetic factors such as de novo mutation of a domina nt gene or subtle sub-microscopic chromosome rearrangement. Finally, t he combination of malformations in CHARGE syndrome strongly supports t he view that this multiple congenital anomalies/mental retardation syn drome is a polytopic developmental field defect involving the neural t ube and the neural crests cells. (C) 1998 Wiley-Liss, Inc.