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The de Lange Syndrome

The de Lange Syndrome Abstract CONGENITAL disorders associated with failure of physical and mental development are common and their pathogenesis is seldom well understood. The finding of abnormal karyogram in certain congenital disorders has added a new dimension in our understanding of these syndromes and renewed the interest in others that have remained in obscurity for many years. The de Lange syndrome originally described in 1933 by Cornelia de Lange1 was, until recently, only recognized in continental Europe. The number of reported cases has increased in 1963 mainly due to contributions from Great Britain and the United States. In the present paper, we shall report six additional cases of this syndrome.* Report of Cases Case 1.—A white girl, the second child of healthy young parents (31 and 30 years old), was born four weeks before the estimated date of confinement. One sister of the patient was born four years before her, and a References 1. de Lange, C.: Sur und type nouveau de dégénération (typus Amstelodamensis) , Arch Med Enfant 36: 713-719, 1933. 2. Vedder, R.: Een "Typus Degenerativus Amstelodamensis" (de Lange) , Ned Geneesk 79:993-995, 1935. 3. de Lange, C.: Nouvelle observation du "typus amstelodamensis" et examen anatomopathologique de ce type , Arch Med Enfant 41:193-203, 1938. 4. Pincherle, B.: Première observation du typus Amstelodamensis (de Lange) en Italie , Arch Med Enfant 42:443-448, 1939. 5. Marie, J., et al: Typus Amstelodamensis , Nourrisson 34:1-4, 1946. 6. Willemin-Clog, L.; Blanchet; and Travade: Un nouveau cas de typus Amstélodamensis: Coexistence d'une hypertrophie musculaire généralisée (Maladie de Cornelia de Lange) , Arch Franc Pediat 4:100-104, 1947. 7. Keizer, D. P. R.: Typus degenerativus Amstelodamensis (Cornelia de Lange) , Helvet Paediat Acta 7:508-511, 1952. 8. Arnaud-Battandier, R., and Gillot, F.: Un nouveau cas de typus Amstelodamensis (Maladie de Cornelia de Lange) , Pediatrie 8:100-103, 1953. 9. Borghi, A.; Giusti, G.; and Bigozzi, U.: Nanismo degenerativo tipo de Amsterdam (Typus Amstelodamensis—malattia de Cornelia de Lange): Presentazione di un caso e considerazioni di ordine genetico , Acta Genet Med 3:365-372, 1954. 10. Bardier, A., and Degoy, A.: Un cas de typus Amstelodamensis , Arch Franc Pediat 13:920, 1956. 11. Zunin, C.: Typus degenerativus Amstelodamensis , Minerva Pediat 9:725-730, 1957. 12. Zweymüller, E.: Neue Beobachtungen an einem Typus degenerativus Amstelodamensis (Cornelia de Lange) , Neue Österrich Z Kinderheilk 2:40-48, 1957. 13. Altozano, P.: Un caso de nanismo typus Amsterlodamensis , Rev Espan Pediat 17:319-332, 1961. 14. Richter, H.: Drei neue Beobachtungen des Cornelia-de-Lange-Syndroms (Typus degenerativus Amstelodamensis) , Arch Kinderheilk 164:249-255, 1961. 15. Giraud, P.: Clinical Conditions With Normal Chromosome Complement , Hum Chromosome Newsletter 9:4-7, 1963. 16. Laurence, K. M., and Ishmael, J.: Chromosomes in Typus Degenerativus Amstelodamensis (de Lange's Syndrome) , Lancet 1:1426, 1963.Crossref 17. Schlesinger, B., et al: Typus Degenerativus Amstelodamensis , Arch Dis Child 38:349-357, 1963.Crossref 18. Hienz, H. A.: Chromosomes in Typus Degenerativus Amstelodamensis (de Lange's Syndrome) , Lancet 2:585, 1963.Crossref 19. Jervis, G. A., and Stimson, C. W.: de Lange Syndrome , J Pediat 63:634-645, 1963.Crossref 20. Ptacek, L. J., et al: Cornelia de Lange Syndrome , J Pediat 63:1000-1020, 1963.Crossref 21. Geudeke, M.; Bijlsma, J. B.; and De Bruijne, J. I.: Chromosomen-onderzoek bij typus degenerativus Amstelodamensis , Maandschr Kindergeneesk 31: 248-258, 1963. 22. Opitz, J. M., et al: Brachmann/de Lange Syndrome , Lancet 2:1019, 1964.Crossref 23. Benda, C. E.: Mongolism and Cretinism: Study of Clinical Manifestations and General Pathology of Pituitary and Thyroid Deficiency , New York: Grune & Stratton, Inc., 1964. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

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Publisher
American Medical Association
Copyright
Copyright © 1965 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1965.02090020327012
Publisher site
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Abstract

Abstract CONGENITAL disorders associated with failure of physical and mental development are common and their pathogenesis is seldom well understood. The finding of abnormal karyogram in certain congenital disorders has added a new dimension in our understanding of these syndromes and renewed the interest in others that have remained in obscurity for many years. The de Lange syndrome originally described in 1933 by Cornelia de Lange1 was, until recently, only recognized in continental Europe. The number of reported cases has increased in 1963 mainly due to contributions from Great Britain and the United States. In the present paper, we shall report six additional cases of this syndrome.* Report of Cases Case 1.—A white girl, the second child of healthy young parents (31 and 30 years old), was born four weeks before the estimated date of confinement. One sister of the patient was born four years before her, and a References 1. de Lange, C.: Sur und type nouveau de dégénération (typus Amstelodamensis) , Arch Med Enfant 36: 713-719, 1933. 2. Vedder, R.: Een "Typus Degenerativus Amstelodamensis" (de Lange) , Ned Geneesk 79:993-995, 1935. 3. de Lange, C.: Nouvelle observation du "typus amstelodamensis" et examen anatomopathologique de ce type , Arch Med Enfant 41:193-203, 1938. 4. Pincherle, B.: Première observation du typus Amstelodamensis (de Lange) en Italie , Arch Med Enfant 42:443-448, 1939. 5. Marie, J., et al: Typus Amstelodamensis , Nourrisson 34:1-4, 1946. 6. Willemin-Clog, L.; Blanchet; and Travade: Un nouveau cas de typus Amstélodamensis: Coexistence d'une hypertrophie musculaire généralisée (Maladie de Cornelia de Lange) , Arch Franc Pediat 4:100-104, 1947. 7. Keizer, D. P. R.: Typus degenerativus Amstelodamensis (Cornelia de Lange) , Helvet Paediat Acta 7:508-511, 1952. 8. Arnaud-Battandier, R., and Gillot, F.: Un nouveau cas de typus Amstelodamensis (Maladie de Cornelia de Lange) , Pediatrie 8:100-103, 1953. 9. Borghi, A.; Giusti, G.; and Bigozzi, U.: Nanismo degenerativo tipo de Amsterdam (Typus Amstelodamensis—malattia de Cornelia de Lange): Presentazione di un caso e considerazioni di ordine genetico , Acta Genet Med 3:365-372, 1954. 10. Bardier, A., and Degoy, A.: Un cas de typus Amstelodamensis , Arch Franc Pediat 13:920, 1956. 11. Zunin, C.: Typus degenerativus Amstelodamensis , Minerva Pediat 9:725-730, 1957. 12. Zweymüller, E.: Neue Beobachtungen an einem Typus degenerativus Amstelodamensis (Cornelia de Lange) , Neue Österrich Z Kinderheilk 2:40-48, 1957. 13. Altozano, P.: Un caso de nanismo typus Amsterlodamensis , Rev Espan Pediat 17:319-332, 1961. 14. Richter, H.: Drei neue Beobachtungen des Cornelia-de-Lange-Syndroms (Typus degenerativus Amstelodamensis) , Arch Kinderheilk 164:249-255, 1961. 15. Giraud, P.: Clinical Conditions With Normal Chromosome Complement , Hum Chromosome Newsletter 9:4-7, 1963. 16. Laurence, K. M., and Ishmael, J.: Chromosomes in Typus Degenerativus Amstelodamensis (de Lange's Syndrome) , Lancet 1:1426, 1963.Crossref 17. Schlesinger, B., et al: Typus Degenerativus Amstelodamensis , Arch Dis Child 38:349-357, 1963.Crossref 18. Hienz, H. A.: Chromosomes in Typus Degenerativus Amstelodamensis (de Lange's Syndrome) , Lancet 2:585, 1963.Crossref 19. Jervis, G. A., and Stimson, C. W.: de Lange Syndrome , J Pediat 63:634-645, 1963.Crossref 20. Ptacek, L. J., et al: Cornelia de Lange Syndrome , J Pediat 63:1000-1020, 1963.Crossref 21. Geudeke, M.; Bijlsma, J. B.; and De Bruijne, J. I.: Chromosomen-onderzoek bij typus degenerativus Amstelodamensis , Maandschr Kindergeneesk 31: 248-258, 1963. 22. Opitz, J. M., et al: Brachmann/de Lange Syndrome , Lancet 2:1019, 1964.Crossref 23. Benda, C. E.: Mongolism and Cretinism: Study of Clinical Manifestations and General Pathology of Pituitary and Thyroid Deficiency , New York: Grune & Stratton, Inc., 1964.

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Apr 1, 1965

References