DISTINCT SKELETAL ABNORMALITIES IN 4 GIRLS WITH SHPRINTZEN-GOLDBERG SYNDROME

We describe 4 girls with Shprintzen-Goldberg syndrome. Skeletal abnorm alities common to 3 of them include bowing of long bones (with a varia ble degree of progression over time), flare of the metaphyses, a large anterior fontanel with persistent patency into the second to fourth y ears of life, 13 pairs of ribs, distinct vertebral abnormalities which were absent neonatally but evolved by the second year of life, and pr ogressive osteopenia. These abnormalities were generalized and, in one case, progressive over the first few years of life. Communicating hyd rocephalus was present in all 4 cases. The eldest, an 11-year-old girl , had additional anomalies not reported previously in this syndrome, i ncluding intestinal malrotation, an anteriorly placed anus, and mild c erebral atrophy. This is the first detailed report of skeletal manifes tations in this rare disorder of unknown cause. These cases, in conjun ction with a review of the literature, suggest that skeletal abnormali ties are common in Shprintzen-Goldberg syndrome. (C) 1995 Wiley-Liss, Inc.