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Brachmann-de Lange Syndrome: Report of Two Cases in a Sibship

Brachmann-de Lange Syndrome: Report of Two Cases in a Sibship Abstract The features of the Cornelia de Lange syndrome were seen in a newborn whose older sibling had died two weeks after birth with multiple congenital abnormalities. A review of available data on the older sibling documented that this baby had a condition compatible with the Cornelia de Lange syndrome. This is the fifth report of two children affected with the Brachmann-de Lange syndrome in a sibship. This report stresses the importance of exact history taking in a situation where a disease with possible genetic implications exists. References 1. Brachmann W: Ein Fall von symmetrischer Monodaktylie durch Ulnadefekt, mit symmetrischer Flughautbildung in den Ellenbogen sowie anderen Abnormalitäten (Zwerghaftigkeit, Halsrippen, Behaarung.) Jb Kinderheilk Phys Erzieh 84:225, 1916. 2. de Lange C: Sur un type nouveau du degeneration (typus Amstelodamensis) . Arch Med Enf 36:713-719, 1933. 3. Ptacek LJ, et al: The Cornelia de Lange syndrome . J Pediatr 63:1000-1020, 1963.Crossref 4. Opitz JM, et al: The etiology of the de Lange syndrome . Birth Defects 16:22-23, 1965. 5. Motl ML, Opitz JM: Studies of malformation syndromes XXVA: Phenotypic and genetic studies of the Brachmann-de Lange syndrome . Hum Hered 21:1-16, 1971.Crossref 6. Beratis NG, Hsu LYF, Hirschhorn K: Familial de Lange syndrome: Report of three cases in a sibship . Clin Genet 2:170-176, 1971.Crossref 7. Choo PB, Bianchi GN: Brachmann-de Lange syndrome: A report of four cases . Aust Paediatr J 1:236, 1965. 8. Pashayan H, et al: Variability of the de Lange syndrome: Report of three cases and genetic analysis of 54 families . J Pediatr 75:853-858, 1969.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Brachmann-de Lange Syndrome: Report of Two Cases in a Sibship

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Publisher
American Medical Association
Copyright
Copyright © 1973 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1973.04160050065013
Publisher site
See Article on Publisher Site

Abstract

Abstract The features of the Cornelia de Lange syndrome were seen in a newborn whose older sibling had died two weeks after birth with multiple congenital abnormalities. A review of available data on the older sibling documented that this baby had a condition compatible with the Cornelia de Lange syndrome. This is the fifth report of two children affected with the Brachmann-de Lange syndrome in a sibship. This report stresses the importance of exact history taking in a situation where a disease with possible genetic implications exists. References 1. Brachmann W: Ein Fall von symmetrischer Monodaktylie durch Ulnadefekt, mit symmetrischer Flughautbildung in den Ellenbogen sowie anderen Abnormalitäten (Zwerghaftigkeit, Halsrippen, Behaarung.) Jb Kinderheilk Phys Erzieh 84:225, 1916. 2. de Lange C: Sur un type nouveau du degeneration (typus Amstelodamensis) . Arch Med Enf 36:713-719, 1933. 3. Ptacek LJ, et al: The Cornelia de Lange syndrome . J Pediatr 63:1000-1020, 1963.Crossref 4. Opitz JM, et al: The etiology of the de Lange syndrome . Birth Defects 16:22-23, 1965. 5. Motl ML, Opitz JM: Studies of malformation syndromes XXVA: Phenotypic and genetic studies of the Brachmann-de Lange syndrome . Hum Hered 21:1-16, 1971.Crossref 6. Beratis NG, Hsu LYF, Hirschhorn K: Familial de Lange syndrome: Report of three cases in a sibship . Clin Genet 2:170-176, 1971.Crossref 7. Choo PB, Bianchi GN: Brachmann-de Lange syndrome: A report of four cases . Aust Paediatr J 1:236, 1965. 8. Pashayan H, et al: Variability of the de Lange syndrome: Report of three cases and genetic analysis of 54 families . J Pediatr 75:853-858, 1969.Crossref

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: May 1, 1973

References