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CLASSIFICATION AND NOMENCLATURE OF MALFORMATION
798 of the originally described patient (e.g., BBB syndrome, Cowden syndrome). (10) Names which are too general for a specific syndrome should be avoided (e.g., I cell disease).
names
Special Article
"
CLASSIFICATION AND NOMENCLATURE OF MALFORMATION
IN an attempt to provide a more rational approach the classification and nomenclature of patterns of malformation, a planning meeting was held at the National Institutes of Health, Bethesda, Maryland, on March 20, at the instigation of Dr Richard L. Christiansen. The other principal participants were: Prof. David Smith (Seattle, Washington), chairman; Dr Murray Feingold (Boston, Massachusetts); Prof. Robert G. Gorlin (Minneapolis, Minnesota); and Prof. David E. Poswillo (London). The proposals are as follows: to
"
An international workshop will convene later to examine and finalise the classification. Comments on the proposals are invited and will be considered at the meeting. Inquiries or suggestions should be directed to Dr Richard L. Christiansen, Chief, Craniofacial Anomalies Program, National Institute of Dental Research, Westwood Building, Room 520, Bethesda, Maryland 20014, U.S.A.
In
England Now
Those of us who still have vestiges of childhood innocence sat up on the evening of March 31, convinced that great portents must herald the dawning of the New Era, and that from them we could prognosticate the future. Alas, no major cosmic phenomena attended the birth of the new National Health Service. Graves did not yawn and yield up their dead; no fierce fiery warriors fought upon the clouds in ranks and squadrons and right form of war; no horses neighed, nor ghosts shrieked and squealed about the streets. Worse, when we went to work on the morning of April 1, nothing seemed to have altered. The beds were still full, apart from those in wards closed for lack of nursing staff. The waiting-lists were no shorter. The wards were as dingy as ever. For a while we tried convincing ourselves it was all some elaborate hoax, and that Mrs Castle would pop out from behind a set of screens " saying, April Fool ! ", and all would carry on as before. But then we realised that portents were to be found, if one looked closely. And pretty ominous they were, too. It has come !
our
PATTERNS
I.
Specific Syndromes A, Known xtiology. 1, Major gene ,
chemical defect. gene detect defect -known ’ l unknown chemical .defect. *
2, Chromosomal abnormalities. 3, Major environmental factor. 4, Multifactorial.
B, Unknown aetiology (e.g., DeLange syndrome). II. Provisional Syndromes or Associations A non-random cluster of defects which currently is not considered to constitute a specific syndrome. Provisional syndromes are distinguished from associations by their more consistent patterns of malformation (e.g., Goldenhar syndrome, VATER association). As knowledge accumulates these disorders may be assigned to categories i and III. III. Anomalies Disorders in which the multiple defects can be reasonably interpreted as the consequence of a single localised anomaly in early morphogenesis which has resulted in multiple secondary or tertiary defects-e.g., Poland anomaly. NOMENCLATURE
(1) When the xtiology is known and easily remembered, utilise the appropriate term to designate the disorder (e.g., 18-trisomy syndrome). (2) Continue time-honoured designations unless there is a good reason for change (e.g., use achrondroplasia even though it is not an achrondroplasia). (3) When feasible, a descriptive name which is reasonably specific in designating the disorder should be used until the aaiology is known (e.g., cartilage-hair hypoplasia syndrome and ataxia-telangiectasia syndrome). (4) When using an eponym the class or descriptive terminology should be included in the name of the syndrome or anomaly wherever possible (e.g., Hurler mucopolysaccharidosis syndrome, Clouston ectodermal dysplasia syndrome, Jeune thoracic dystrophy syndrome, Robin micrognathia-glossoptosis anomaly). (5) The possessive use of an eponym should be discontinued (e.g., Down-not Down’s-syndrome). (6) Designation by non-specific manifestations which are not a
consistent feature of the disorder should
not
be
used.
(7) Avoid numerical designations such as mucopolysaccharidosis types i-vi and acrocephalosyndactyly types I-V.
(8) Avoid names which may have an unpleasant connotation for the family and/or affected individual (e.g., gargoylism, bird-headed dwarf). (9) The syndrome should not be designated by the
Revenue is
to be cut by 10%-but money is being spent in quantities on renting buildings for the new area, to say nothing of the staff in them. Meantime, the possibility
vast
of any increases in the establishments of staff who have physical contact with patients becomes even more remote. The major administrative preoccupation, apart from cutting monies, seems to be the printing of new letterheadings, with much time and consideration given to a suitable emblematic device to represent the new area. It was proposed asking staff for their ideas, but when informal talks revealed that even the most senior of the medical staff had not completely lost the obscene sarcastic humour of the medical student, the idea was dropped. Perhaps the worst omen was the long and fulsome letter from the chairman of the new authority, which was basically a potpourri of all the hackneyed phrases about striding forwards together into a better tomorrow. On two occasions, howI and my colleagues "; when even ever, he referred to " our Sovereign Lady is content with my husband and I ", we were all bereft of speech by this particular turn of phrase. However, the expectation is that the new bureaucratic machine will function perfectly provided that it is not troubled by clinical doctors, nurses of Salmon grade 6 and below, and, above all, patients. "
*
*
*
In matters medical and surgical and midwiferal Blood is nowadays practically always peripheral Even from somewhere like the umbilical cord which, though admittedly ventral, Seems to me rather central. Whereas nerves, however far they may digress, Are all included in the C.N.s. What a mess! Such careless imprecision, one observes, Shows just how little blood can reach the nerves.
names
Special Article
"
CLASSIFICATION AND NOMENCLATURE OF MALFORMATION
IN an attempt to provide a more rational approach the classification and nomenclature of patterns of malformation, a planning meeting was held at the National Institutes of Health, Bethesda, Maryland, on March 20, at the instigation of Dr Richard L. Christiansen. The other principal participants were: Prof. David Smith (Seattle, Washington), chairman; Dr Murray Feingold (Boston, Massachusetts); Prof. Robert G. Gorlin (Minneapolis, Minnesota); and Prof. David E. Poswillo (London). The proposals are as follows: to
"
An international workshop will convene later to examine and finalise the classification. Comments on the proposals are invited and will be considered at the meeting. Inquiries or suggestions should be directed to Dr Richard L. Christiansen, Chief, Craniofacial Anomalies Program, National Institute of Dental Research, Westwood Building, Room 520, Bethesda, Maryland 20014, U.S.A.
In
England Now
Those of us who still have vestiges of childhood innocence sat up on the evening of March 31, convinced that great portents must herald the dawning of the New Era, and that from them we could prognosticate the future. Alas, no major cosmic phenomena attended the birth of the new National Health Service. Graves did not yawn and yield up their dead; no fierce fiery warriors fought upon the clouds in ranks and squadrons and right form of war; no horses neighed, nor ghosts shrieked and squealed about the streets. Worse, when we went to work on the morning of April 1, nothing seemed to have altered. The beds were still full, apart from those in wards closed for lack of nursing staff. The waiting-lists were no shorter. The wards were as dingy as ever. For a while we tried convincing ourselves it was all some elaborate hoax, and that Mrs Castle would pop out from behind a set of screens " saying, April Fool ! ", and all would carry on as before. But then we realised that portents were to be found, if one looked closely. And pretty ominous they were, too. It has come !
our
PATTERNS
I.
Specific Syndromes A, Known xtiology. 1, Major gene ,
chemical defect. gene detect defect -known ’ l unknown chemical .defect. *
2, Chromosomal abnormalities. 3, Major environmental factor. 4, Multifactorial.
B, Unknown aetiology (e.g., DeLange syndrome). II. Provisional Syndromes or Associations A non-random cluster of defects which currently is not considered to constitute a specific syndrome. Provisional syndromes are distinguished from associations by their more consistent patterns of malformation (e.g., Goldenhar syndrome, VATER association). As knowledge accumulates these disorders may be assigned to categories i and III. III. Anomalies Disorders in which the multiple defects can be reasonably interpreted as the consequence of a single localised anomaly in early morphogenesis which has resulted in multiple secondary or tertiary defects-e.g., Poland anomaly. NOMENCLATURE
(1) When the xtiology is known and easily remembered, utilise the appropriate term to designate the disorder (e.g., 18-trisomy syndrome). (2) Continue time-honoured designations unless there is a good reason for change (e.g., use achrondroplasia even though it is not an achrondroplasia). (3) When feasible, a descriptive name which is reasonably specific in designating the disorder should be used until the aaiology is known (e.g., cartilage-hair hypoplasia syndrome and ataxia-telangiectasia syndrome). (4) When using an eponym the class or descriptive terminology should be included in the name of the syndrome or anomaly wherever possible (e.g., Hurler mucopolysaccharidosis syndrome, Clouston ectodermal dysplasia syndrome, Jeune thoracic dystrophy syndrome, Robin micrognathia-glossoptosis anomaly). (5) The possessive use of an eponym should be discontinued (e.g., Down-not Down’s-syndrome). (6) Designation by non-specific manifestations which are not a
consistent feature of the disorder should
not
be
used.
(7) Avoid numerical designations such as mucopolysaccharidosis types i-vi and acrocephalosyndactyly types I-V.
(8) Avoid names which may have an unpleasant connotation for the family and/or affected individual (e.g., gargoylism, bird-headed dwarf). (9) The syndrome should not be designated by the
Revenue is
to be cut by 10%-but money is being spent in quantities on renting buildings for the new area, to say nothing of the staff in them. Meantime, the possibility
vast
of any increases in the establishments of staff who have physical contact with patients becomes even more remote. The major administrative preoccupation, apart from cutting monies, seems to be the printing of new letterheadings, with much time and consideration given to a suitable emblematic device to represent the new area. It was proposed asking staff for their ideas, but when informal talks revealed that even the most senior of the medical staff had not completely lost the obscene sarcastic humour of the medical student, the idea was dropped. Perhaps the worst omen was the long and fulsome letter from the chairman of the new authority, which was basically a potpourri of all the hackneyed phrases about striding forwards together into a better tomorrow. On two occasions, howI and my colleagues "; when even ever, he referred to " our Sovereign Lady is content with my husband and I ", we were all bereft of speech by this particular turn of phrase. However, the expectation is that the new bureaucratic machine will function perfectly provided that it is not troubled by clinical doctors, nurses of Salmon grade 6 and below, and, above all, patients. "
*
*
*
In matters medical and surgical and midwiferal Blood is nowadays practically always peripheral Even from somewhere like the umbilical cord which, though admittedly ventral, Seems to me rather central. Whereas nerves, however far they may digress, Are all included in the C.N.s. What a mess! Such careless imprecision, one observes, Shows just how little blood can reach the nerves.