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Dermatological Manifestations of the Cornelia de Lange Syndrome

Dermatological Manifestations of the Cornelia de Lange Syndrome Abstract Six cases of the uncommon congenital Cornelia de Lange syndrome have been studied to emphasize and clarify the dermatological manifestations. The Cornelia de Lange syndrome comprises severe mental and growth retardation combined with variable degrees of multiple ectodermal anomalies. The dermatological features consistently present in this series of cases are: generalized hypertrichosis, generalized cutis marmorata, and a group of facial characteristics which collectively create a unique and distinct physiognomy. A recent increase of reported cases strengthens the suspicion that an appreciable number of undiagnosed patients with this syndrome are presently institutionalized. References 1. De Lange, C.: Sur un type nouveau de degeneration (Typus Amstelodamensis) , Arch Med Enfant 36:713, 1933. 2. Opitz, J.M., et al: Brachmann/de Lange Syndrome , Lancet 2:1019, 1964.Crossref 3. Laurence, K.M., and Ishmael, J.: Chromosomes in Typus Degenerativus Amstelodamensis (De Lange's Syndrome) , Lancet 1:1426, 1963.Crossref 4. Ptacek, L.J., et al: The Cornelia de Lange Syndrome , J Pediat 63:1000-1020 ( (Nov) ) 1963.Crossref 5. Jervis, G.A., and Stimson, C.W.: De Lange Syndrome , J Pediat 63:634-645 ( (Oct) ) 1963.Crossref 6. Gibson, R.: The De Lange Syndrome: Report of Three Cases , J Canad Med Assoc 91:643 ( (Sept) ) 1964. 7. Schlesinger, B., et al: Typus Degenerativus Amstelodamensis , Arch Dis Child 38:349-357, 1963.Crossref 8. Schuster, D.S.: Cutaneous Manifestations of the Cornelia De Lange Syndrome, read before the American Academy of Dermatology, Dec 8, 1964, personal communication to the author. 9. Heinz, H.A.: Chromosomes in Typus Degenerativus Amstelodamensis, (De Lange's Syndrome) , Lancet 2:585, 1963.Crossref 10. Geudeke, M.; Bijlsma, J.B.; and De Bruijne, J.I.: Chromosomen-Onderzoek bij typus degenerativus Amstelodamensis , Maandschr Kindergeneesk 31:248-258, 1963. 11. Hart, Z.H.; Jaslow, R.I.; and Gomez, M.R.: The De Lange Syndrome , Amer J Dis Child 109:325 ( (April) ) 1965. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Dermatology American Medical Association

Dermatological Manifestations of the Cornelia de Lange Syndrome

SALAZAR, FERNANDO N.
Archives of Dermatology , Volume 94 (1) – Jul 1, 1966
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References (9)

Publisher
American Medical Association
Copyright
Copyright © 1966 American Medical Association. All Rights Reserved.
ISSN
0003-987X
eISSN
1538-3652
DOI
10.1001/archderm.1966.01600250044007
Publisher site
See Article on Publisher Site

Abstract

Abstract Six cases of the uncommon congenital Cornelia de Lange syndrome have been studied to emphasize and clarify the dermatological manifestations. The Cornelia de Lange syndrome comprises severe mental and growth retardation combined with variable degrees of multiple ectodermal anomalies. The dermatological features consistently present in this series of cases are: generalized hypertrichosis, generalized cutis marmorata, and a group of facial characteristics which collectively create a unique and distinct physiognomy. A recent increase of reported cases strengthens the suspicion that an appreciable number of undiagnosed patients with this syndrome are presently institutionalized. References 1. De Lange, C.: Sur un type nouveau de degeneration (Typus Amstelodamensis) , Arch Med Enfant 36:713, 1933. 2. Opitz, J.M., et al: Brachmann/de Lange Syndrome , Lancet 2:1019, 1964.Crossref 3. Laurence, K.M., and Ishmael, J.: Chromosomes in Typus Degenerativus Amstelodamensis (De Lange's Syndrome) , Lancet 1:1426, 1963.Crossref 4. Ptacek, L.J., et al: The Cornelia de Lange Syndrome , J Pediat 63:1000-1020 ( (Nov) ) 1963.Crossref 5. Jervis, G.A., and Stimson, C.W.: De Lange Syndrome , J Pediat 63:634-645 ( (Oct) ) 1963.Crossref 6. Gibson, R.: The De Lange Syndrome: Report of Three Cases , J Canad Med Assoc 91:643 ( (Sept) ) 1964. 7. Schlesinger, B., et al: Typus Degenerativus Amstelodamensis , Arch Dis Child 38:349-357, 1963.Crossref 8. Schuster, D.S.: Cutaneous Manifestations of the Cornelia De Lange Syndrome, read before the American Academy of Dermatology, Dec 8, 1964, personal communication to the author. 9. Heinz, H.A.: Chromosomes in Typus Degenerativus Amstelodamensis, (De Lange's Syndrome) , Lancet 2:585, 1963.Crossref 10. Geudeke, M.; Bijlsma, J.B.; and De Bruijne, J.I.: Chromosomen-Onderzoek bij typus degenerativus Amstelodamensis , Maandschr Kindergeneesk 31:248-258, 1963. 11. Hart, Z.H.; Jaslow, R.I.; and Gomez, M.R.: The De Lange Syndrome , Amer J Dis Child 109:325 ( (April) ) 1965.

Journal

Archives of Dermatology – American Medical Association

Published: Jul 1, 1966

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