Table Of ContentA.Wackenheim
Cheirolumbar Dysostosis
Developmental Brachycheiry and Stenosis
of the Bony Vertebral Lumbar Canal
With Collaboration of
E. Babin, P. Bourjat, E. Bromhorst, R. M. Kipper,
R. Ludwiczak, and G. Vetter
Translated by M. T. Wackenheim
With 39 Figures and 85 Tables
Springer-Verlag Berlin Heidelberg New York 1980
AUGUSTE WACKENHEIM
Professor and Chairman of Department of Diagnostic Radiology
CHU Strasbourg, 1, Place de l'H6pita~ F-67091 Strasbourg Cedex
Translator
MARIE-THERESE WACKENHEIM
Institut de Radiologie, Universite de Strasbourg
11, rue Humann, F-67085 Strasbourg Cedex
ISBN-13:978-3-540-10371-4 e-ISBN-13:978-3-642-67823-3
DOl: 10.1007/978-3-642-67823-3
Library of Congress Cataloging in Publication Data. Wackenheim, Auguste. Cheirolumbar dysostosis.
Bibliography: p. Includes index. I. Spinal canal-Stenosis. 2. Vertebrae, Lumbar-Abnormalities. 3. Hand
Abnorrna1ities, 4. Dysostosis-Genetic aspects. I. Title. II. Title: Brachycheiry and stenosis of the bony vertebrae
lumbar canal. [DNLM: I. Spinal canal-Abnormalities. 2. Lumbar vertebrae-Pathology. 3. Constriction,
Pathologic. 4. Hand-Abnormalities. WE725 Wl15c] RD77I.S74W3 617'.375 80·22617
ISBN-13:978-3-S40-10371-4 (U.S.)
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Preface
It was with great pleasure that I accepted Professor Wackenheim's invitation to write
the preface of this most interesting monograph. During the international course on
neuroradiology in Obernai, organized by Professor Wackenheim in 1978, an entire day
was devoted to discussions about various aspects of stenosis of the lumbar vertebral
canal. As Professor Wackenheim and his group, in particular Dr. E. Babin, had thorough·
ly studied this field, it was an excellent occasion for the exchange of views through
personal contact. Their support of basic views such as attributing the cause of stenosis
to a developmental disturbance of growth of the neural element - the vertebral arch -
and spontaneous agreement about essentials in classification and nomenclature facili
tated this exchange.
Reading the present monograph made me think back to 1949 when I wrote my
first publication on stenosis of the lumbar vertebral canal in a French volume that com
memorated my teacher in neurosurgery, Professor Clovis Vincent. During the following
years it was impossible to publish a more detailed paper on the subject in international
journals since their editorial boards did not believe in its occurrence. My first English
papers were published in the Journal of Bone and Joint Surgery (1954, 1955), but it
was only during the 1970s that this form of stenosis became more universally recog
nized.
Arriving at the adequate name of "idiopathic developmental stenosis" was a diffi
cult matter. The word developmental is hard to translate in a number oflanguages; its
importance was to indicate that the stenosis reveals its pathological effects only when
growth is complete and the vertebrae have attained their full size. Therefore, develop
mental stenosis is different from congenital stenosis, which is present at birth and is
usually part of a malformation of the spine. Whereas the word developmental may
maintain its value, the expression idiopathic, although indispensable at present, should
in the future be replaced by another term, indicating its intrinsic mechanism or cause.
Etymologically the word idiopathic indicates, in contrast to the obsolete word
deuteropathic, that the. condition is not secondary to extraneous influences or causes
but is a primary independent or self-organized condition. In modern terminology the
word idiopathic has a more limited meaning, expressing that the etiology is unknown.
In conjunction with the term "stenosis of the vertebral canal", it serves to distinguish
between developmental stenosis of the vertebral canal as an isolated entity of unknown
etiology and developmental stenosis as a result of inborn errors in skeletal growth, as
seen, for example, in achondroplasia, or skeletal growth anomalies as a consequence of
endocrine disorders such as acromegaly or pseudohypoparathyroidism (Cullen and
Pearce).
VI Preface
Idiopathic developmental stenosis of the lumbar vertebral canal may, however, be
accompanied by stenosis of other portions of the vertebral canal (even in those at a
distance from the lumbar region) in the case of associated involvement of the cervical
vertebral canal. In such cases the cervical vertebrae are rarely hypertrophic whereas the
lumbar vertebrae are hypertrophic. The bony hypertrophy of the lumbar vertebral ar
ches and processes in developmental stenosis, as described in my early publications,
may be absent, as we learned from intra-operative measurements of some narrow lum
bar verte bral canals during later years.
The occurrence of developmental stenosis of the vertebral canal with and without
hypertrophy of the vertebral arches and processes complicates a possible insight into
the mechanism of the anomalies.
Hereditary idiopathic developmental stenosis of the vertebral canal has rarely been
reported.
Of the possible causes of idiopathic developmental stenosis of the vertebral canal,
an inborn error seems most likely. It may have influenced some authors to consider in
born and congenital identical terms.
The most remarkable and important fact advanced by Professor Wackenheim is
the occurrence of the hypertrophic form of idiopathic developmental stenosis of the
lumbar vertebral canal associated with developmental brachyphalangia, brachymetacar
pia or a combination of both. The high frequency of hereditary manifestation among
these cases is another important indication that something is wrong in the genetic code.
Just as the occurrence of developmental stenosis of the vertebral canal has passed
unrecognized for many years, and its diagnosis is still sometimes missed, the same may
have happened with respect to its possible association with brachycheiry. It should
stimulate all those involved in the investigation of stenosis of the vertebral canal, my
self included, to thoroughly examine the hands, feet (one of Wackenheim's cases) and
even other skeletal parts of the body.
The author has given a careful description of the various types of brachyphalangia
and brachymetacarpia. He presents in tabulated form the average normal values for the
length of all phalanges and metacarpals in males and females based on personal mea
surements and those reported by Gam, which is of importance for a comparative study
of the patients.
An extensive presentation of their 29 patients, deviant measures included, is ac
companied by a great number of excellent illustrations. It gives conclusive evidence
that Professor Wackenheim has discovered a new clinical entity, now called cheirolum
bar dysostosis, which will occupy a separate position between idiopathic developmen
tal stenosis of the lumbar vertebral canal on the one hand and developmental stenosis
as a part of widespread growth disturbances of the skeleton on the other.
The present monography is not only of indispensable value to all workers in the
field of spinal abnormalities, but might also be of interest to geneticists, who might find
some links with abnormalities in the composition of the genes and accordingly contrib
ute to its aetiology.
Professor Wackenheim deserves sincere congratulations on his remarkable achieve
ment.
Utrecht, The Netherlands, Autumn 1980 HENK VERBIEST
Contents
A. Introduction ......................................... .
B. Material and Methods ................................... . 3
I. Definition of Vertebral Dysostosis (Idiopathic Developmental Stenosis
of the Bony Lumbar Vertebral Canal) ....................... . 3
1. Plain AP Projection ................................. . 4
a) Measurements ................................... . 4
b) Radiological Pathomorphology . . . . . . . . ................ . 6
2. Plain Lateral Projection ............................... . 6
a) Measurements ................................... . 6
b) Radiological Pathomorphology ........................ . 7
3. Plain Oblique Projection .............................. . 7
4. Radiculosaccography ................................ . 7
5. Phlebography ..................................... . 8
6. Gas Myelography ................................... . 8
II. Definition of Brachycheiry as a Phalangeal and/or Metacarpal Dysostosis . 8
III. Radiological and Clinical Data in 29 Cases of Cheirolumbar Dysostosis .. 13
C. Discussion . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 87
I. Size of the Patients ................................... . 87
II. Vertebral Anomalies ................................... . 88
III. Anomalies of the Hands 89
IV. Hereditary Transmission ................................ . 91
D. Nosography .......................................... . 93
Bibliography ........................................... . 97
Subject Index .......................................... . 101
A. Introduction
In our daily neuroradiologic practice we encounter patients with lumgalgiae and sciati
cae secondary to strain and walking, correlated to developmental narrowness of the lum
bar canal as defined by Verbiest (57). I would like to express acknowledgements to all
my collaborators of the neuroradiologic section of my department for having focused
their attention on this condition, and especially to Dr. E. Babin, who contributed to
the monography about "The Narrow Lumbar Canal" (Springer-Verlag, 1980). We are
also deeply indebted to Prof. H. Verbiest who greatly helped us with his advices and
his personal contribution in teaching during the international course held about this
subject in 1978. We adopt his terminology and criteria for defining congenital stenosis,
developmental stenosis, additional compressive agents, and acquired stenosis of the
vertebral lumbar canal.
While studying the narrow lumbar canal our attention has been drawn by some pa
tients who had moreover developmental anomalies of the hands. These anomalies of
the hands represent what could be summarized by the term brachycheiry or brachychei
ria, consisting of either one or several too short phalanges (brachyphalangy), or one or
several short metacarpals (brachymetacarpy or brachymetacarpia), or the association
of both, i.e. brachymetacarpophalangy.
Soon after we had published the first cases (69) we came across a family of which
several members had a very marked cheirolumbar dysostosis. In order to study the her
itary transmission we came to examine all living members in four generations of this
family and thus found (p. 40):
5 cases of cheirolumbar dysostosis
1 case of brachycheiry (brachymetacarpalia) without lumbar dysostosis
3 cases of lumbar dysostosis without brachycheiry
1 case of generation I and 1 case of generation II who were already dead at the time of
the study but who are said by their family to have had "abnormal knuckles".
We first set out the methodology and the criteria used for the radiodiagnosis of
canalar stenosis and of brachycheiry. Next, a report is given of each observation. Dis
cussion, finally is aimed at determining the place of cheirolumbar dysostosis in the no
sology of the congenital and developmental diseases of the skeleton. At present it is
impossible to know in detail the mechanism of the dysostosis. We thus suggest the pos
sibility of a "distal" dysostosis (extremity of the upper limb and extremity of the spine)
resulting from a failure in the growth potential which causes shortness both of the
bones of the hand and of the posterior vertebral arches of the lumbar spine. In our
case 25 the cheirolumbar dysostosis is accompanied by brachymetatarsalia (brachyme
tapody).
2 Introduction
In some cases we fmd minor anomalies such as exostoses, conic epiphyses and
cutaneous syndactyly, which suggest the connection of cheirolumbar dysostosis with
other dyschondroplastic or dysostotic diseases.
In the medical literature we found only one paper describing the association of
brachycheiric and lumbar anomalies but this paper, published by Pippow in 1942 (39),
describes a condition very different from cheirolumbar dysostosis. Pippow's syndrome
comprises brachydactylia (brachyphalangia, brachymetacarpalia and brachymetapody)
associated with hypoplasia or agenesis of certain articular and transverse processes of
the lumbar spine.
The author reports about 42 members of a family over four generations. His casus
princeps, Case 30, was a 16-year-old girl with epileptic seizures and brachydactylia
comprising at the level of the hands:
On the right: brachybasophalangia of the I, brachymesophalangia of the II to the IV,
and hypophalangia of the V.
On the left: brachybasophalangia of the I, hypophalangia of the II and of the V, and
brachymesophalangia of the III and of the IV.
The brachydactylic anomalies are more marked on the feet and perfectly symmetrical
at the level of the phalanges:
On the right: brachyphalangia of the big toe and hypophalangia of the II to the V.
On the left: the same anomalies plus brachymetapody of the IV.
As concerns the lumbar spine Pippow reports hypoplasia of the posterior arches,
hypoplasia of the transverse processes and of the articular processes - mainly the in
ferior - and enlarged interapophyseal interspaces. These anomalies are asymmetrical
and involve only certain lumbar vertebrae. The malformations of the posterior arch,
especially those of the processes, are quite different from constitutional narrowness of
the lumbar canal but deserve to be pOinted out here, since they represent another form
of associated dysostosis of the hands and dysostosis of the lumbar spine.
Pippow's Case 19 was a 19-year-old girl who also had brachybasophalangia of the I
and hypophalangia of the II to the V on hands and feet. In the lumbar spine there was
aplasia of the transverse processes and especially marked lumbar kyphosis with an al
most right angle at the level of a wedge-shaped vertebra which corresponds to the L2
body. In this case the anomalies are major ones and in both nature and degree com
pletely different from those we describe in stenosing cheirolumbar dysostosis. Twelve
patients of Pippow's series (Cases 1, 4, 5, 12, 18, 19, 27, 33, 37, 38, 39 and 40) had
brachydactylic anomalies. Four show the association of vertebral malformation and
brachydactylia. Of the 42 members of this family Pippow was able to examine 23, of
whom 16 had brachydactylia (12 had isolated brachydactylia and in 4 there were addi·
tional vertebral malformations).
This study by Pippow is the only one to report an association of vertebral and
brachycheiric anomalies without other skelettal changes. We would however like to
point out that there is a difference between this disease and the cheirolumbar syndrome.
The anomalies on the hands could indeed be considered as similar, but those of the spine
differ greatly.
B. Material and Methods
I. Definition of Vertebral Dysostosis (Idiopathic Developmental Stenosis
of the Bony Lumbar Vertebral Canal)
We retain Verbiest's criteria for diagnosing lumbar canalar stenosis as concerns the mea
surements as well as the pathomorphology. Since not all of our patients had had con
trast examinations performed, some cases were diagnosed from the plain fIlms alone.
Verbiest (57-66) defined developmental stenosis as an ossification disturbance devel
oping after birth, involving only the posterior vertebral arch and resulting in stenosis of
the bony vertebral lumbar canal. Being a surgeon, Verbiest attaches prominent impor
tance to peroperative measurements and thus introduces the notion of decreased ca
nalar diameters in the definition: "a form of compressive stenosis caused by abnormal
shortness of its sagittal and/or its transverse diameters as a result of changes in its walls".
He goes as far as to say: "for practical reasons we have followed the last method, ac
cepting interpedicular distances smaller than 17 mm and midsagittal diameters smaller
than 12 mm as too short." We adopt Verbiest's classification of congenital stenosis:
"existing at or before birth; the term congenital stenosis indicates a malformation and
refers to a condition which certainly existed at birth. The diagnosis can be made, if
stenosis is discovered during early infancy, or, if discovered at a later age, it is accom
panied by other malformations in the lumbar area such as vertebral malformations, mal
formations of the spinal cord or congenital tumors."
Accordingly, our material of cheirolumbar dysostosis includes no example of a
congenital case in Verbiest's sense.
Verbiest also distinguishes additional compressive agents and speaks then of "mix
ed stenoses". In our material such factors are sometimes present.
It does not of course include any cases of what Verbiest calls acquired stenosis.
Moreover, since it is not exclusively made up of surgical cases, we do not distinguish
absolute (AP diameter of 10 mm or less) and relative (AP diameter between 10 and
12 mm) stenoses. We do however use measurements as often as possible to quantify the
degree of stenosis. But, unlike Verbiest, we attach the highest importance to the patho
morphology of the lumbar spine as seen both on plain fIlms and on contrast examina
tions. Let us recall here the opinion of Roulleau and Guillaume: "No method of mea
surement, no specific alteration in shape of the neural arch seems to have been describ
ed and we are confined to words: increased thickness, increased density" (44). In other
words, the study of the pathomorphology is certainly more adapted to daily practice,
and measurements are only a second step to estimate more precisely the degree of ste
nosis. We also adopt Babin's classification (6, 7) and distinguish the "diffuse antero-
4 Material and Methods
posteriorly predominant canalar stenosis" and the "concentric stenosis of the canal re
lated to hypertrophy and disorientation of the structures of the posterior arch" which
may predominate at the level of the pedicles (interpedicular distance) or at the level of
the articular processes (Vouge's index). The more so since this concept proceeds from
radiological bases, the anteroposterior variety being mainly apparent on plain lateral
projections and the circular one on plain frontal projections.
1. Plain AP Projection
a) Measurements
Interpedicular Distance. This distance has been measured by numerous authors (Els
berg.) as reported by Roulleau and Guillaume (44). For our study we use following table
which summarizes the values already published.
Interpedicular distance (mm): minimum
and maximum corrected normal values
Ll 17-19
L2 18-20
L3 17-20
L4 18-20
LS 20-23
Though this distance varies little in Verbiest's cases, he diagnosed stenosis when
the measurement was less than 17 mm.
Angle Formed by the Articular Interspaces. The left and the right articular space have
a caudomedial orientation and form together an angle ofless than 30° in normal con
ditions. In case of developmental stenosis this angle increases, as described by Roulleau
and Guillaume (44).
Fig. 1. A Measurement of the length (L) of the phalanges and metacarpals. 1 Measure
ments used in the Gam data; 2 Measurements used by Ludwiczak in our department
B Translucent interapophysolaminar space and measurement of Vouge's index
-From L I-L2 to L4-L5: the ratio w /W
w Width of the interapophysolaminar space at the level concerned
W Width of the L3 vertebra which is chosen because it is the best displayed on plain
films
-For LS-S I: the ratio hS/wS
h Height of the LS-S 1 interapophysolaminar space
w Width of the LS-5 I interapophysolaminar space
-Three varieties of interapophysolaminar spaces
a Normal
b Asymmetric because of unilateral hypertrophy of the articular processes
c Narrowed because of diffuse hypertrophy of the articular processes
1 Lamina (superior vertebra);2 Inferior articular process; 3 Superior articular process;
4 Lamina (inferior vertebra); 5 Spinous process (inferior vertebra); 6 Spinous process
(superior vertebra)
