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December 1979

Craniosynostosis-Radial Aplasia: Baller-Gerold Syndrome

Author Affiliations

The Center for Genetic Counseling and Birth Defect Evaluation The Tufts-New England Medical Center 171 Harrison St Boston, MA 02119; Division of Medical Genetics Department of Pediatrics Mount Sinai School of Medicine Fifth Ave and 100th St New York, NY 10029; Department of Oral and Maxillofacial Surgery and Pediatrics University of Washington School of Medicine Seattle, WA 98195

Am J Dis Child. 1979;133(12):1279-1280. doi:10.1001/archpedi.1979.02130120071014

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.