Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus
Abstract
We report on a boy with Shprintzen-Goldberg syndrome, the 12th patient described to date. In addition to the commonly described anomalies of individuals with SGS, this patient also had cranial asymmetry, hypotonia, osteopenia, and hydrocephalus. These manifestations should be included in the diagnosis and anticipatory guidance of children with SGS. Am. J. Med. Genet. 70:450–453, 1997. © 1997 Wiley-Liss, Inc.