Hostname: page-component-cd9895bd7-gxg78 Total loading time: 0 Render date: 2024-12-25T01:13:54.528Z Has data issue: false hasContentIssue false
  • English
  • Français

On the Nature of Syndrome Delineation

Published online by Cambridge University Press:  01 August 2014

M. Michael Cohen Jr.
M. Michael Cohen Jr.*
Affiliation:
Department of Oral and Maxillofacial Surgery, School of Dentistry, and Department of Pediatrics, School of Medicine, University of Washington, Seattle, Washington, USA
*
Department of Oral and Maxillofacial Surgery, SB-24, University of Washington, Seattle, WA 98195, USA

Abstract

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

Perhaps half of all patients with multiple abnormalities have known, recognized syndromes. The other half represent unknown entities that need to be further delineated. The significance of syndrome delineation cannot be overestimated. As an unknown syndrome becomes delineated, its phenotypic spectrum, its natural history, and its risk of recurrence become known, allowing for better patient care and family counseling.

The process of syndrome delineation is discussed in terms of unknown genesis syndromes of the provisionally-unique and recurrent-pattern types, and known-genesis syndromes of the pedigree, chromosomal biochemical-defect, and environmentally-induced types. Several special syndrome categories are defined, including the chance syndrome, variant additive syndrome, association syndrome, exceptional chromosomal syndrome, and exceptional monogenic syndrome. Finally, a population definition of a syndrome is developed.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 26 , Issue 2 , April 1977 , pp. 103 - 119
Copyright
Copyright © The International Society for Twin Studies 1977

References

REFERENCES

Anonymous 1975a. Classification and nomenclature of morphological defects. Lancet, 1: 513.Google Scholar
Anonymous 1975b. Proposed guidelines for the classification, nomenclature, and naming of morphologic defects. Syndrome Ident., 3: 1–3.Google Scholar
Böök, J.A. 1950. Clinical and genetical studies of hypodontia: 1. Premolar aplasia, hyperhidrosis, and canities prematura: A new hereditary syndrome in man. Am. J. Hum. Genet., 2: 240–263.Google Scholar
Cohen, M.M. Jr. 1976. Dysmorphic syndromes with craniofacial manifestations. In Steward, R.E. and Prescott, G. (eds.): Oral Facial Genetics [pp. 500-662]. St. Louis: C.V. Mosby Co. Google Scholar
Emanuel, I., Huang, S.-W., Yeh, E.-K. 1968. Physical features of Chinese children with Down's syndrome. Am. J. Dis. Child., 115: 461–468.Google Scholar
Gorlin, R.J., Pindborg, J.J., Cohen, M.M. Jr. 1976. Syndromes of the Head and Neck [Second Edition]. New York: McGraw-Hill.Google Scholar
Grüneberg, H. 1947. Animal Genetics and Medicine [p. 2]. New York: Paul B. Hoeber.Google Scholar
Herrmann, J., Opitz, J.M. 1974. Naming and nomenclature of syndromes. Birth Defects, 10: 69–86.Google ScholarPubMed
Holmes, L.B., Moser, H.W., Halldorsson, S., Mack, C., Pant, S.S., Matzilevich, B. 1972. Mental Retardation: An Atlas of Diseases with Associated Physical Abnormalities. New York: Macmillan Co. Google Scholar
Klenerman, L., Ockenden, B.G. 1967. Osteosarcoma occurring in osteogenesis imperfecta: Report of 2 cases. J. Bone Jt. Surg. Br. Vol., 49: 314–323.CrossRefGoogle Scholar
Kogoj, F., 1956. Symptomenkomplexe, Syndrome und Semisyndrome. Wien Med. Wochenschr., 106: 787–789.Google Scholar
Lynch, H.T., Lemon, H.M., Krush, A.J. 1966. A note on “cancer-susceptible” and “cancer-resistant” genotypes. Nebr. State Med. J., 51: 209–211.Google Scholar
Marden, P.M., Smith, D.W., McDonald, M.J. 1964. Congenital anomalies in the newborn infant, including minor variations. J. Pediatr., 64: 358–371.Google Scholar
Miller, R.W. 1969. Childhood cancer and congenital defects. A study of U.S. death certificates during the period 1960-1966. Pediatr. Res., 3: 389–397.Google Scholar
Mudd, S.H., Irreverre, F., Laster, L. 1967. Sulfite oxidase deficiency in man: Demonstration of the enzymatic defect. Science, 56: 1599–1602.Google Scholar
Opitz, J.M., Herrmann, J., Dieker, H. 1969. The study of malformation syndromes in man. Birth Defects, 5: 1–10.Google Scholar
Sebrechts, P.H. 1961. A significant diagnostic sign of pilonidal cyst. Dis. Colon Rectum, 4: 56–59.CrossRefGoogle Scholar
Shah, C.V., Pruzansky, S., Harris, W.S. 1970. Cardiac malformations with facial clefts. Am. J. Dis. Child., 119: 238–244.Google Scholar
Smith, D.W. 1975. Classification, nomenclature, and naming of morphologic defects. J. Pediatr., 87: 162–164.Google Scholar
Smith, D.W. 1976. Recognizable Patterns of Human Malformation [Second Edition]. Philadelphia: W.B. Saunders Co. Google Scholar
Warkany, J. 1971a. Syndromes. Am. J. Dis. Child,. 121: 365–370.Google Scholar
Warkany, J. 1971b. Congenital Malformation: Notes and Comments [pp. 43–48]. Chicago: Year Book Medical Publishers.Google Scholar