Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

Craniosynostosis-Radial Aplasia: Baller-Gerold Syndrome

Craniosynostosis-Radial Aplasia: Baller-Gerold Syndrome Abstract 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. References 1. Baller F: Radiusaplasie und Inzucht . Z Menschl Vereb -U Konstit Lehre 29:782-790, 1950. 2. Gerold M: Frakturheilung bei einem seltenen Fall kongenitaler Anomalie der oberen Gliedmassen . Zentralbl Chir 84:831-834, 1959. 3. Greitzer LJ, Jones KL, Schnall BS, et al: Craniosynostosis-radial aplasia syndrome . J Pediatr 84:723-724, 1974.Crossref 4. Ladda RL, Stoltzfus E, Gordon SL, et al: Craniosynostosis associated with limb reduction malformations and cleft lip/palate: A distinct syndrome . Pediatrics 61:12-15, 1978. 5. Lowry RB: Congenital absence of the fibula and craniosynostosis in sibs . J Med Genet 9:227-229, 1972.Crossref 6. Hermann J, Pallister PD, Opitz J: Craniosynostosis and craniosynostosis syndromes . Rocky Mt Med J 66:45-56, 1969. 7. Cohen MM: An etiologic and nosologic overview of craniosynostosis syndromes . Birth Defects: Original Articles Series Vol XI, No. (2) , pp 137-189, 1975. 8. Omenn GS, Figley MM, Graham CB, et al: Prospects for radiographic intrauterine diagnosis: The syndrome of thrombocytopenia with absent radii . N Engl J Med 288:777-778, 1973.Crossref 9. Kaffe S, Rose JS, Godmilow L, et al: Prenatal diagnosis of renal anomalies . Am J Med Genet 1:241-251, 1977.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Loading next page...
 
/lp/american-medical-association/craniosynostosis-radial-aplasia-baller-gerold-syndrome-nQAeeq2men

References (11)

Publisher
American Medical Association
Copyright
Copyright © 1979 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1979.02130120071014
Publisher site
See Article on Publisher Site

Abstract

Abstract 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. References 1. Baller F: Radiusaplasie und Inzucht . Z Menschl Vereb -U Konstit Lehre 29:782-790, 1950. 2. Gerold M: Frakturheilung bei einem seltenen Fall kongenitaler Anomalie der oberen Gliedmassen . Zentralbl Chir 84:831-834, 1959. 3. Greitzer LJ, Jones KL, Schnall BS, et al: Craniosynostosis-radial aplasia syndrome . J Pediatr 84:723-724, 1974.Crossref 4. Ladda RL, Stoltzfus E, Gordon SL, et al: Craniosynostosis associated with limb reduction malformations and cleft lip/palate: A distinct syndrome . Pediatrics 61:12-15, 1978. 5. Lowry RB: Congenital absence of the fibula and craniosynostosis in sibs . J Med Genet 9:227-229, 1972.Crossref 6. Hermann J, Pallister PD, Opitz J: Craniosynostosis and craniosynostosis syndromes . Rocky Mt Med J 66:45-56, 1969. 7. Cohen MM: An etiologic and nosologic overview of craniosynostosis syndromes . Birth Defects: Original Articles Series Vol XI, No. (2) , pp 137-189, 1975. 8. Omenn GS, Figley MM, Graham CB, et al: Prospects for radiographic intrauterine diagnosis: The syndrome of thrombocytopenia with absent radii . N Engl J Med 288:777-778, 1973.Crossref 9. Kaffe S, Rose JS, Godmilow L, et al: Prenatal diagnosis of renal anomalies . Am J Med Genet 1:241-251, 1977.Crossref

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Dec 1, 1979

There are no references for this article.