Craniosynostosis-Radial Aplasia: Baller-Gerold Syndrome

The syndrome of craniosynostosis and radial aplasia was first described by Baller in 1950¹ and Gerold in 1959.² Greitzer et al³ subsequently described a fourth patient in 1974 with similar findings. The purpose of this report is to describe the findings in two additional cases that further delineate this syndrome.

Report of Cases.—Case 1.—A male infant (Figure) was the second child born to normal nonconsanguineous parents. The first pregnancy resulted in a normal infant. The patient was referred to the Mount Sinai School of Medicine, New York, at 5 weeks of age for evaluation of multiple congenital anomalies. His birth weight was 1.7 kg (< third percentile). Examination showed ridging of the lambdoid sutures and widely separated sagittal and metopic sutures with a large triangular anterior fontanel. The orbits were shallow thus causing a prominent proptosis. The ears were low set with a folded helix.