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Cutaneous Manifestations of the Cornelia de Lange Syndrome

Cutaneous Manifestations of the Cornelia de Lange Syndrome Abstract The Cornelia de Lange or Brachman-de Lange syndrome is characterized by significant cutaneous and external manifestations, including hirsutism, cutis marmorata, and a bluish discoloration of the facial skin. The facies is ordinarily typical and readily recognized. Epidermal ridge patterns are often hypoplastic. In addition growth failure, skeletal abnormalities, mental retardation, and abnormal cry are present. The cry is so characteristic that it may be recognized without seeing the patient. Early death usually occurs in these patients. References 1. De Lange, C.: Sur un type nouveau de dégénération (typus Amstelodamensis) Arch Med Enf 36:713-719,1933. 2. Brachmann, W.: Ein Fall von symmetrisher Monodaktylie durch Ulnadefekt , Jahrb Kinderheilk 84:225-235, 1916. 3. Ptacek, L.J., et al: The Cornelia de Lange Syndrome , J Pediat 63:1000-1020 ( (Nov) ) 1963.Crossref 4. Schlesinger, B., et al: Typus Degenerative Amstelodamensis , Arch Dis Child 38:349-357 ( (Aug) ) 1963.Crossref 5. Jervis, G.A., and Stimson, C.W.: de Lange Syndrome , J Pediat 63:634-645 ( (Oct) ) 1963.Crossref 6. Silver, H.K.: de Lange Syndrome , Amer J Dis Child 108:523-529 ( (Nov) ) 1964.Crossref 7. Gibson, R.: de Lange Syndrome , Canad Med Assoc J 91:643-646 ( (Sept) ) 1964. 8. Opitz, J.M.: " Addendum to Abstract of Reference 3, 1964-1965 ," S. S. Gellis, MD (ed.): Yearbook of Pediatrics , Chicago: Yearbook Publishers, 502-504, 1964. 9. Opitz, J.M.: Letters to the Editor: Brachman de Lange Syndrome , Lancet 11:1019 ( (Nov 7) ) 1964.Crossref 10. Midlo, C., and Cummins, H.: Fingerprints, Palms, and Soles , New York: Dover Publications Inc, 1961. 11. Nassau, E., and Kallner, A.: Beobachtungen an den grossen Hand-und Fusslinien bei Kranken Kindern , Ann Paediat 191:295-307 ( (Nov) ) 1958. 12. Felsher, I.: A Quick Look at Dermatoglyphics , Arch Derm 84:199-212 ( (Aug) ) 1961.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Dermatology American Medical Association

Cutaneous Manifestations of the Cornelia de Lange Syndrome

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References (12)

Publisher
American Medical Association
Copyright
Copyright © 1966 American Medical Association. All Rights Reserved.
ISSN
0003-987X
eISSN
1538-3652
DOI
10.1001/archderm.1966.01600240068011
Publisher site
See Article on Publisher Site

Abstract

Abstract The Cornelia de Lange or Brachman-de Lange syndrome is characterized by significant cutaneous and external manifestations, including hirsutism, cutis marmorata, and a bluish discoloration of the facial skin. The facies is ordinarily typical and readily recognized. Epidermal ridge patterns are often hypoplastic. In addition growth failure, skeletal abnormalities, mental retardation, and abnormal cry are present. The cry is so characteristic that it may be recognized without seeing the patient. Early death usually occurs in these patients. References 1. De Lange, C.: Sur un type nouveau de dégénération (typus Amstelodamensis) Arch Med Enf 36:713-719,1933. 2. Brachmann, W.: Ein Fall von symmetrisher Monodaktylie durch Ulnadefekt , Jahrb Kinderheilk 84:225-235, 1916. 3. Ptacek, L.J., et al: The Cornelia de Lange Syndrome , J Pediat 63:1000-1020 ( (Nov) ) 1963.Crossref 4. Schlesinger, B., et al: Typus Degenerative Amstelodamensis , Arch Dis Child 38:349-357 ( (Aug) ) 1963.Crossref 5. Jervis, G.A., and Stimson, C.W.: de Lange Syndrome , J Pediat 63:634-645 ( (Oct) ) 1963.Crossref 6. Silver, H.K.: de Lange Syndrome , Amer J Dis Child 108:523-529 ( (Nov) ) 1964.Crossref 7. Gibson, R.: de Lange Syndrome , Canad Med Assoc J 91:643-646 ( (Sept) ) 1964. 8. Opitz, J.M.: " Addendum to Abstract of Reference 3, 1964-1965 ," S. S. Gellis, MD (ed.): Yearbook of Pediatrics , Chicago: Yearbook Publishers, 502-504, 1964. 9. Opitz, J.M.: Letters to the Editor: Brachman de Lange Syndrome , Lancet 11:1019 ( (Nov 7) ) 1964.Crossref 10. Midlo, C., and Cummins, H.: Fingerprints, Palms, and Soles , New York: Dover Publications Inc, 1961. 11. Nassau, E., and Kallner, A.: Beobachtungen an den grossen Hand-und Fusslinien bei Kranken Kindern , Ann Paediat 191:295-307 ( (Nov) ) 1958. 12. Felsher, I.: A Quick Look at Dermatoglyphics , Arch Derm 84:199-212 ( (Aug) ) 1961.Crossref

Journal

Archives of DermatologyAmerican Medical Association

Published: Jun 1, 1966

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