RT Journal
A1 FEINGOLD M, SKLOWER SL, WILLNER JP, DESNICK RH, COHEN M
T1 Craniosynostosis-radial aplasia: Baller-gerold syndrome
JF American Journal of Diseases of Children
JO American Journal of Diseases of Children
YR 1979
FD December 1
VO 133
IS 12
SP 1279
OP 1280
DO 10.1001/archpedi.1979.02130120071014
UL http://dx.doi.org/10.1001/archpedi.1979.02130120071014
AB 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.