0
May 1971, Vol 121, No. 5 >
Article | May 1971

Syndromes FREE

Josef Warkany, MD
[+] Author Affiliations

Received for publication Nov 18, 1970.

This essay is a chapter in a forthcoming book by the author entitled Congenital Malformations. Notes and Comments. Chicago, Year Book Medical Publishers Inc. Reprints will not be available.


Am J Dis Child. 1971;121(5):365-370. doi:10.1001/archpedi.1971.02100160035001.
Text Size: A A A
Published online
Article
References
Comments

It is well known that congenital malformations have a marked tendency to aggregate in persons damaged by adverse prenatal influences. Abnormal genes, chromosomes, and environmental factors show little respect for the limits of organs as we know them in postnatal life. Teratogenic factors act at a time when organs and organ systems are in stages of differentiation with a biochemistry, physiology, and anatomy of their own. Disturbing factors often lead to widespread pathologic changes and multiple defects which can occur in a bewildering number of combinations and permutations. The teratologic taxonomist has an understandable desire to bring a modicum of order to this medley and to find principles of classification for the apparent chaos. To this purpose "syndromes" of congenital malformations that show a tendency to "run together" have been suggested and established in the past and with the renewed interest in clinical teratology, new syndromes are now introduced

REFERENCES

1 +
Laurence JZ, Moon RC:  Four cases of retinitis pigmentosa occurring in the same family and accompanied by general imperfections of development . Brit Ophthal Rev 2:32-41, 1866;.
2 +
Biedl A:  Ein Geschwisterpaar mit adiposo-genitaler Dystrophie . Deutsch Med Wschr 48:1630, 1922;.
3 +
Warkany J, Frauenberger GS, Mitchell AG:  Heredofamilial deviations: I. The Laurence-Moon-Biedl syndrome . Amer J Dis Child 53:455-470, 1937;.
4 +
Bell J:  The Laurence Moon Biedl syndrome , in Treasury Human Inheritance . London, Cambridge University Press, 1958;, vol 5, pp 51-96.
5 +
Franceschetti A, Klein D:  Les manifestations tapétorétiniennes et leur importance clinique et génétique . Rev Otoneuroophtal 20:109-114, 1948;.
6 +
Smith DW, Opitz JM, Inhorn SL:  A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in two siblings . J Pediat 67:617-624, 1965;.
7 +
Passarge E, McAdams AJ:  Cerebro-hepato-renal syndrome . J Pediat 71:691-702, 1967;.
8 +
Bowen P, Lee CSN, Zellweger H:  A familial syndrome of multiple congenital defects . Bull Johns Hopkins Hosp 114:402-414, 1964;.
9 +
Warkany J, Passarge E, Smith LB:  Congenital malformations in autosomal trisomy syndromes . Amer J Dis Child 112:502-517, 1966;.
10 +
Hecht F:  Phenotypic differentiation of autosomal chromosomal abnormalities. Anomalies on the gross, radiologic, autopsy, cellular, and molecular levels in the D1 (13-15) trisomy syndrome . Alabama J Med Sci 3:489-492, 1966;.
11 +
Heinrichs EH, Allen SW Jr:  The 18-trisomy syndrome: A spectrum? Clin Pediat 2:25-32, 1963;.
12 +
Gregg NM:  Congenital cataract following German measles in mother . Trans Ophthal Soc Aust 3:35-46, 1942;.
13 +
Beswick R, Warner R, Warkany J:  Congenital anomalies following maternal rubella . Amer J Dis Child 78:334-348, 1949;.
14 +
McBride WG:  Thalidomide and congenital abnormalities . Lancet 2:1358, 1961;.
15 +
Lenz W:  Diskussionsbemerkung zu dem Vortrag von R.A. Pfeiffer und K. Kosenow: Zur Frage der exogenen Entstehung schwerer Extremitätenmissbildungen . Tagung der Rheinisch-Westfalischen Kinderärztevereinigung in Düsseldorf 19:11, 1961;.
16 +
Källén B, Winberg J:  Multiple malformations studied with a national register of malformations . Pediatrics 44:410-417, 1969;.
17 +
Goldenhar M:  Associations malformatives de l'oeil et de l' oreille, en particulier le syndrome dermoide épibulbaireappendices auriculaires-fistula auris congenita et ses relations avec la dysostose mandibulo-faciale . J Genet Hum 1:243-282, 1952;.
18 +
Freeman EA, Sheldon JH:  Cranio-carpo-tarsal dystrophy. An undescribed congenital malformation . Arch Dis Child 13:277-283, 1938;.
19 +
Fischer I:  Zur Geschichte der Krankheitsnamen . Med Klin 25:412-414, 1929;.
20 +
Schönfeld W:  Syndromatologie . Deutsch Med Wschr 79:324-326, 1954;.
21 +
Leiber B, Olbrich G: Wörterbuch der Klinischen Syndrome . Berlin, Urban & Schwarzenberg, 1963;.
22 +
Parrot J:  Sur la malformation achondroplasique et le Dieu Ptah . Bull Soc Anthrop 1:296-308, 1878;.
23 +
Weber FP:  The Sturge-Kalischer disease and the Sturge-Weber panathenaic amphora at Toronto . Brit Med J 1:708-709, 1936;.
24 +
Emed A:  Pterygium syndrome . J Pediat 48:73-76, 1956;.
25 +
Edwards JH, Harnden DG, Cameron AH:  A new trisomic syndrome . Lancet 1:787-790, 1960;.
26 +
Goldsmith WM:  The Catlin mark: The inheritance of an unusual opening in the parietal bones . J Hered 13:69-71, 1922;.
27 +
Hövels O, Mullereisert F:  Der "Typus Rostockiensis" als charakteristisches Kombinationsbild multipler Missbildungen (Polydaktylie, Hypospadie, Kryptorchismus und Mikrognathie) . Z Kinderheilk 77:454-467, 1955;.
28 +
de Lange C:  Nouvelle observation du "Typus Amstelodamensis" et examen anatomo-pathologique de ce type . Arch Med Enf 41:193-203, 1938;.
29 +
Takeuchi T, Kambara T, Morikawa N:  Pathologic observations of the Minamata disease . Acta Path Jap 9:769-783, 1959;.
30 +
Warkany J, Beaudry PH, Hornstein S:  Attempted abortion with 4-amino-pteroylglutamic acid (aminopterin): Malformations of the child . Amer J Dis Child 97:274-281, 1959;.
31 +
Zellweger H, McDonald JS, Abbo G:  Is lysergic-acid diethylamide a teratogen? Lancet 2:1066-1068, 1967;.
32 +
Gross RE: Surgery of Infancy and Childhood . Philadelphia, WB Saunders Co, 1953;, pp 1-1000.

Figures

Tables

Interactive Graphics

Video

Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal

References

1 +
Laurence JZ, Moon RC:  Four cases of retinitis pigmentosa occurring in the same family and accompanied by general imperfections of development . Brit Ophthal Rev 2:32-41, 1866;.
2 +
Biedl A:  Ein Geschwisterpaar mit adiposo-genitaler Dystrophie . Deutsch Med Wschr 48:1630, 1922;.
3 +
Warkany J, Frauenberger GS, Mitchell AG:  Heredofamilial deviations: I. The Laurence-Moon-Biedl syndrome . Amer J Dis Child 53:455-470, 1937;.
4 +
Bell J:  The Laurence Moon Biedl syndrome , in Treasury Human Inheritance . London, Cambridge University Press, 1958;, vol 5, pp 51-96.
5 +
Franceschetti A, Klein D:  Les manifestations tapétorétiniennes et leur importance clinique et génétique . Rev Otoneuroophtal 20:109-114, 1948;.
6 +
Smith DW, Opitz JM, Inhorn SL:  A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in two siblings . J Pediat 67:617-624, 1965;.
7 +
Passarge E, McAdams AJ:  Cerebro-hepato-renal syndrome . J Pediat 71:691-702, 1967;.
8 +
Bowen P, Lee CSN, Zellweger H:  A familial syndrome of multiple congenital defects . Bull Johns Hopkins Hosp 114:402-414, 1964;.
9 +
Warkany J, Passarge E, Smith LB:  Congenital malformations in autosomal trisomy syndromes . Amer J Dis Child 112:502-517, 1966;.
10 +
Hecht F:  Phenotypic differentiation of autosomal chromosomal abnormalities. Anomalies on the gross, radiologic, autopsy, cellular, and molecular levels in the D1 (13-15) trisomy syndrome . Alabama J Med Sci 3:489-492, 1966;.
11 +
Heinrichs EH, Allen SW Jr:  The 18-trisomy syndrome: A spectrum? Clin Pediat 2:25-32, 1963;.
12 +
Gregg NM:  Congenital cataract following German measles in mother . Trans Ophthal Soc Aust 3:35-46, 1942;.
13 +
Beswick R, Warner R, Warkany J:  Congenital anomalies following maternal rubella . Amer J Dis Child 78:334-348, 1949;.
14 +
McBride WG:  Thalidomide and congenital abnormalities . Lancet 2:1358, 1961;.
15 +
Lenz W:  Diskussionsbemerkung zu dem Vortrag von R.A. Pfeiffer und K. Kosenow: Zur Frage der exogenen Entstehung schwerer Extremitätenmissbildungen . Tagung der Rheinisch-Westfalischen Kinderärztevereinigung in Düsseldorf 19:11, 1961;.
16 +
Källén B, Winberg J:  Multiple malformations studied with a national register of malformations . Pediatrics 44:410-417, 1969;.
17 +
Goldenhar M:  Associations malformatives de l'oeil et de l' oreille, en particulier le syndrome dermoide épibulbaireappendices auriculaires-fistula auris congenita et ses relations avec la dysostose mandibulo-faciale . J Genet Hum 1:243-282, 1952;.
18 +
Freeman EA, Sheldon JH:  Cranio-carpo-tarsal dystrophy. An undescribed congenital malformation . Arch Dis Child 13:277-283, 1938;.
19 +
Fischer I:  Zur Geschichte der Krankheitsnamen . Med Klin 25:412-414, 1929;.
20 +
Schönfeld W:  Syndromatologie . Deutsch Med Wschr 79:324-326, 1954;.
21 +
Leiber B, Olbrich G: Wörterbuch der Klinischen Syndrome . Berlin, Urban & Schwarzenberg, 1963;.
22 +
Parrot J:  Sur la malformation achondroplasique et le Dieu Ptah . Bull Soc Anthrop 1:296-308, 1878;.
23 +
Weber FP:  The Sturge-Kalischer disease and the Sturge-Weber panathenaic amphora at Toronto . Brit Med J 1:708-709, 1936;.
24 +
Emed A:  Pterygium syndrome . J Pediat 48:73-76, 1956;.
25 +
Edwards JH, Harnden DG, Cameron AH:  A new trisomic syndrome . Lancet 1:787-790, 1960;.
26 +
Goldsmith WM:  The Catlin mark: The inheritance of an unusual opening in the parietal bones . J Hered 13:69-71, 1922;.
27 +
Hövels O, Mullereisert F:  Der "Typus Rostockiensis" als charakteristisches Kombinationsbild multipler Missbildungen (Polydaktylie, Hypospadie, Kryptorchismus und Mikrognathie) . Z Kinderheilk 77:454-467, 1955;.
28 +
de Lange C:  Nouvelle observation du "Typus Amstelodamensis" et examen anatomo-pathologique de ce type . Arch Med Enf 41:193-203, 1938;.
29 +
Takeuchi T, Kambara T, Morikawa N:  Pathologic observations of the Minamata disease . Acta Path Jap 9:769-783, 1959;.
30 +
Warkany J, Beaudry PH, Hornstein S:  Attempted abortion with 4-amino-pteroylglutamic acid (aminopterin): Malformations of the child . Amer J Dis Child 97:274-281, 1959;.
31 +
Zellweger H, McDonald JS, Abbo G:  Is lysergic-acid diethylamide a teratogen? Lancet 2:1066-1068, 1967;.
32 +
Gross RE: Surgery of Infancy and Childhood . Philadelphia, WB Saunders Co, 1953;, pp 1-1000.

Correspondence

Submit a Letter
CME
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
Clear Answers | Save For Later
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.
NOTE:
Citing articles are presented as examples only. In non-demo SCM6 implementation, integration with CrossRef’s “Cited By” API will populate this tab (http://www.crossref.org/citedby.html).
Compression-Only CPR: Pushing the Science Forward
Cone
AAM 2010;304:1493-1495.
All you need to read in the other general journals
BMJ 2010;341:c5893-c1494.
Submit a Comment

Some tools below are only available to our subscribers or users with an online account.

Related Content

Customize your page view by dragging & repositioning the boxes below.

© 2013 American Medical Association. All Rights Reserved.
Powered bySilverchair Information Systems