Two half brothers with a new syndrome of brain anomalies, retardation, ectodermal dysplasia with alopecia, skeletal malformations, ear abnormalities, and kidney dysplasia (BRESEK) are reported from the University of Minnesota, Minneapolis. The acronym BRESEK denotes the common findings, and BRESHECK reflects additional manifestations occurring in one or other patient: Hirschsprung disease, eye hypoplasia, cleft palate/cryptorchidism. Central nervous system anomalies included microhydrocephaly, dilatation of the spinal canal, and fusion of the thalami. One patient died in respiratory distress at 6 hours. The half brother, maternally related, had neonatal seizures; examination at 7 years of age showed a developmental age of 9 months. Cytogenetic studies in both subjects were normal (46,XY karyotype). [1]
COMMENT. This new syndrome has features similar to some included in syndromes cited by the authors and described by Goldberg and Shprintzen (1981), Brunoni (1983), Santos (1988), Hurst (1988), and Sanyanusin (1995).