close

Вход

Забыли?

вход по аккаунту

?

Platyspondyly polyarticular osteoarthritis and absent -2-globulin in two brothers.

код для вставкиСкачать
Platyspondyly, Polyarticular Osteoarthritis, and Absent
8-2-Globulin in Two Brothers
John R. Martin, D. W. MacEwan, J. Antoine Blais, Julius Metrakos,
Phil Gold, Frederick Langer, and R. 0. Hill
Physical, radiologic, and laboratory findings in 2 brothers with a cartilagenous
dysplasia have been presented. The most striking findings were platyspondyly,
flattening of the metacarpal and metatarsal heads, and a symmetrical polyarticular osteoarthritis. No pt-globulin was demonstrated in their sera. Two
cases in siblings, an otherwise negative family history, and parental consanguinity suggest an autosornal recessive mode of inheritance.
with inherited connective tissue disorders.
Some of them are clearly cases of spondyloepiphyseal dysplasia tarda (SDT).'a 0thers
have been regarded as examples of MorFrom the Departments of Medicine and Radiolquio's Disea~e,~-l~
or one of the other
ogy a t Queen Mary Veteran's and Montreal General
Hospitals, Montreal, Quebec, Canada.
spondyloepiphyseal dysplasias,lG but a resiSupported by a grant-in-aid from the Department due remains which cannot be satisfactorily
of Health of the Province of Quebec to the Quebec
Division of the Canadian Arthritis and Rheuma- fitted into either of these two categories.
tism Society.
Two such cases were encountered on the
JOHN R. MARTIN.
MD, FRCP (C) : Associate Physi- Magdalen Islands in the Gulf of St. Lawcian, Montreal General Hospital, Assistant Professor,
Dept. of Medicine, McGill University, IMontreal, rence. They were brothers whose parents
Quebec. D. W. MACEWAN,
MD, FRCP (C) : Radiolo- were second cousins (Fig 1). Widespread
gist-in-Chief, Winnipeg General Hospital, Winnipeg, Manitoba. Professor of Radiology, University osteoarthritis was the most prominent cliniof Manitoba. J. ANTOINEBuis. MD: Medical Di- cal feature. No p-2-globulin could be derector Quebec Division Canadian Arthritis and tected in their serum proteins. A survey of
Rheumatism Society (deceased) . JULIUS METRAKOS,
PHD: Associate Professor, Dept. of Genetics, McGill their kindred (Fig 1) failed to reveal other
University. PHIL GOLD,MD, PHD, FRCP(C) : As- cases. Since syndromes of hereditary polysistant Physician, Montreal General Hospital, As- articular osteoarthritis are not widely known
sociate Professor, Dept. of Medicine, McGill Unito rheumatologists, a brief description of
versity. FREDERICK
LANCER:
Chief Resident, Dept. of
.Orthopedic Surgery, Montreal General Hospital.
these 2 patients may be useful.
Platyspondyly or flattening of the vertebral bodies and precocious osteoarthritis
have been observed in a number of patients
R. 0.HILL,MDCM: Assistant Radiologist, Montreal
General Hospital, Assistant Professor, Dept. of
Radiology, McGill University.
Reprint requests should be addressed to Dr.
Martin, Montreal General Hospital, Montreal, Que'bec. Canada.
Submitted for publication July 31, 1969; accepted
*,Oct23,1969.
CASE REPORTS
Case 1 Proband
This 41-year-old man (Fig 1. IV-11) was admitted
to Queen Mary Veterans Hospital, Nov 3. 1965, for
.Arthitis and Rheumatism, Vol. 13, No. 1 (January-February 1970)
53
VI
Discordant dizygot i c twins
B A f f e c t e d mole
QUnaffected
d
female,examinod
n u n a f f e c t e d mole,not e x a m i n e d
2 Miscarriage
Female,dead
Fig 1. Pedigree.
investigation of pain in the left groin. The patient
stated that he had suffered from pains in the hips,
hands, and lumbar spine for about 10 years, but
had been able to work as a fisherman until 2 years
before this admission. Apart from these complaints,
his health had been good except for a long-standing
discharge from the left ear. The right hand was
dominant.
Examination revealed a healthy-looking man 63?/..
in. tall. BP was lSO/SO. A chronic otitis media was
present in the left ear. T h e hard palate was not
arched, and there was no lymphadenopathy. Examination of the heart, lungs, abdomen, and cen.
tral nervous system revealed no defects. T h e peripheral pulses were strong and equal. T h e arches of
the feet were not flattened. The musculoskeletal
system showed restriction of movement at certain
joints-the hands, feet, and hips being the most
severely affected. Some account of the changes in
51
these paits is required to illustrate the unusuaP
symmetrical pattern of the lesions. There were
slight flexion contractures in the fingers, but a more.
serious handicap was the absence or marked restriction of flexion at the metacarpophalangeal
(MCP) joints of the thumb, index, and middle
fingers. Flexion was slightly restricted at the MCP
joints of the ring fingers, but a full range was
present at the MCP joints of the little fingers. A
similar pattern was observed in the metatarsophalangeal (MTP) joints of the feet. Movements
in the first MTP joints were negligible but normal
in the remaining MTP joints. The most noteworthy
feature in the hips was the absence of adduction,
extension, and internal rotation. Flexion, abduction, and external rotation were all reduced particularly in the left hip. The wrists and subtalar joints.
showed a slight impairment of mobility. In the
thoracolumbar spine, there was no extension. For-
Mhritis and Rheumatism, Vol. 13, No. 1 (January-February 1970).
PLATYSPONDYLY AND OSTEOARTHRITIS
ward flexion (the difference in the measurenients
from C7 to S1 when the spine is flexed and then
extended) was reduced to 5 cm. Otherwise, movements of the musculoskeletal system were within
the normal range. The ratio of the length of the
tipper segment of the body to that of the lower
was 0.92. T h e span minus height was +3.75 an.
Thoracic cage measurements were: AP diameter
21.9 cm: transverse diameter 27.5 cm: circumference
at expiration 78.8 cm, at full inspiration, 82.5 cm.
Skull circumference was 56.25 cm: cephalic index,
67.
Psychometric meosurements. Assessment of the patient's intelligence by the Barbeau-Pinard vocabulary and revised Beta IQ tests indicated that he was
functioning in the borderline range with a Beta IQ
of 74. A low score of 7 on the vocabulary test confirmed the finding of a relatively low intellectual
ability.
Sllt lamp examination ond oudlogram. Examination of the cornea showed neither clouding nor
opacity. Air and bone conduction audiograms indicated moderately severe mixed deafness in the left
ear with no calculable loss of hearing for speech in
the right ear.
Loboratory findings. Total plasma proteins were
7.5 9% (albumin 4.9 g%, a-1 0.2 g%, 01-20.5 9%.
p 0.6 g%, and y 1.2 g%) Cellulose acetate electrophoresis of the serum showed an absence of the p-2globulin component. Immunoglobulins by radial
immunodiffusion technic were: IgA 380 mg%,
IgG 900 mg%, and IgM 90 mg%. Remaining laboratory tests were normal. They included: an electrocardiogram: routine and electrophoretic analysis
of the urine: urine aminoacid pattern; examination
of a 24 hr urine specimen for keratosulphates and
other mucopolysaccharides (MPS) ; FII tanned cell
test for the rheumatoid factor: VDRL; lupus
erythematosus preparation: complete blood counts:
erythrocyte sedimentation rate: estimations of blood
urea nitrogen: fasting blood sugar: and the serum
levels of cholesterol, uric acid, calcium, phosphorus,
and alkaline and acid phosphatases.
.
Rodioiogic ffndings. A skeletal survey was performed. Platyspondyly was observed in all seg
ments of the vertebral column except the cervical
spine. It was most obvious in the lumbar section,
but diminished progressively in a cephalic direction
(Fig 2). T h e ribs were crowded together, stemming
at an acute angle from the vertebral column. In
the hands, the heads of all metacarpals were flattened, and osteoarthritis was present in the MCP
joints and between the scaphoids and the trapezii
(Fig 3 ) . 'The articular surfaces of the ankles were
flattened, and there were a few small marginal
spurs. Joint spaces widened laterally. I n the feet,
the heads of all metatarsals were flattened, and
osteoarthritis had developed in the right first .MTP
joint (Fig 4). Both naviculars were deformed, and
degenerative changes could be seen in the left
talonavicrilar joint. The pelvis was symmetrical, but
there was a slight flaring of the iliac crests. Osteoarthritis of Grade 2-3 severity'' was present in the
hips (Fig 5 ) . The patellae were square, and the
glenoid cavities of the shoulders appeared to be
oriented more vertically than is normal.
Case 2 Brother of Proband
This 45-year-old man (Fig 1. IV-8) was admitted
to Queen Mary Veteran's Hospital, Jan 1967. At
age 10, he had begun to note that his back was
bending, and at about the same time, he had become aware of pains and stiffness in his knees, hips.
and hands. He had worked as a fisherman from his
youth until 1959 when an arthrodesis was performed on the left hip using a Smith-Peterson pin
and side plate. Subsequently, he was able to walk,
but unable to work. On several occasions during
the recent past, he had been found anemic and
given transfusions. The right hand was dominant.
Examination revealed a healthy-looking man 66
in. tall with obvious shortening of the trunk and a
limp (Fig 6 ) . BP was 120/90. Like his brother,
this man's mouth, lymphatic system, peripheral
pulses, neck, chest, abdomen, and extremities
were perfectly normal on examination apart from
certain changes in the musculoskeletal system. Severe
flexion contractures were present in the hands
(Fig 7). There was no thickening of the palmar
fascia nor of the tendons to account for these contractures, yet forcible extension of the fingers was
impossible. Nevertheless, all PIP joints could be
folly flexed, and the tips of the bent fingers could
touch the palms. The findings in the MCP, MTP,
wrist, subtalar and right hip joints were essentially
similar to the proband. Crepitus was present in
both shoulders with internal rotation slightly reduced. The remaining skeletal abnormalities were
confined to the spine which was shortened and to
a small, sharp kyphosis in the lower dorsal-lumbar
region. There was some flexion above this deformity, but no movement below it, and forward
flexion of the whole thoraco-lumbar spine was only
5 cm. The ratio of the length of the upper segment of the body to that of the lower was 0.88.
The span minus height was + I 0 cm. Thoracic cage
measiirements were: AP diameter 23.1 cm: trans.
Mhritis and Rheumatism, Vol. 13, No. 1 (Janua~February1970)
55
Fig 2. Case 1. Lumbar spine: (left). Frontal view. (right). Lateral view. Vertebral bodies show increased transverse and decreased vertical diameters. Small tOII@Je
like protrusions on superior and inferior margins of anterior surfaces of vertebral bodies. Irregular superior and inferior plates. Air in disc spaces,
PLANSPONDYLY AND OSTEOARTHRITIS
Fig 3. Case 1. Hands: Heads of metacarpals flattened with loss of overlying articular cartilage and
sclerosis of adjacent bone. Changes more marked in first three MCP joints. Minimal degenerative changes
in IP joints.
verse diameter 31.25 cm; circumference at expiration 87.5 cm, at full inspiration 95 cm. Skull circumference was .58.75 cni; cephalic index, 69.
Psychometric measurements. Evaluation of the
patient's intelligence indimted that he was in the
borderline class between mental deficiency and dull
normal. His full IQ was 74; his verbal IQ, 66; and
his performance, 711.
Neither
clouding nor opacity was evident in the cornea.
Hearing by air and bone conduction and for
speech-effective thresholds was normal at
fieqoencies in both ears.
Slit lamp examlnation and audiogram.
laboratory findings. The same laboratory studies
were performed as in Case 1, as well as additional
tests to assess hemopoietic function. Total plasma
protein was 7.4 9% (albumin 4.3 gyo. a-1 0.2 gyo,
a-2 0.8 8%. p 0.8 g%, and 7 1.3 9%). Cellulose
acetate electrophoresis showed an absence of the
p-2-globulin component (Fig 8 ) . The immunoglobulins were: IgA 410 mg%, IgG I050 mg%, and
IgM 240 mg%. Hemoglobin was 13.8 g/100 ml;
serum iron was reduced to 77 pg/lOO ml. Unsaturated iron binding capacity was increased to 339
pg/100 ml; the total iron binding capacity was
raised to 416 pg/lOO ml; the percentage of transferrin saturations was reduced to 18.5. N o occult
The coaguloflam
was follnd in the
and red blood corpuscle fragility test were also normal. Direct and indirect Coombs tcsts were negative. As in Case 1, all the other laboratory tests
were normal.
-
RadioioSic findings. A
survey
was performed. Pronounced platyspondyly was observed in the lumbar and lower dorsal repions,
extending upwards with diminishing degree but
still unquestionably detectable at C6 (Fig 9 ) . T h e
ribs were crowded together, stemming horizontally
from the vertebral column. The bones of the cranium were slightly thickened. MCP and MTP
joints, as well as midtarsal joints of the left foot.
resembled Case 1 except the changes were more
advanced (Fig 10, 11, and 12). The ankle joints
Mhritis and Rheumatism, Vol. 13, No. 1 (January-Febmrly 1970)
57
MARTIN ET AL
FAMILY STUDIES
Information elicited from the proband
revealed that he had an affected brother
(Case 2) and that screening his relatives
would not be difficult because the majority
resided in one small community in the
Magdalen Islands. The survey undertaken
in July 1966 involved 61 of his kindred (Fig
1). With each relative, the procedure included an examination of the musculoskeletal system and radiograms of the lumbar spine, pelvis, and hands. No additional
cases of platyspondyly were discovered. The
only other findings of note were Grade 1
osteoarthritisl7 of the hips in the 79-year-old
mother (111-1) of the proband; polysyndactyly of the hands and feet in a son (V50) ; and Grade 2 osteoarthri,tis17of the left
hip and congenital fusion of the third and
fourth lumbar vertebrae in a 46-year-old
paternal cousin (IV-14). The proband had
a twin brother who did not resemble him.
The blood group was A,RH positive for
both. Although p-2-globulin could not be
detected in the serum of the proband, it
was present in normal amounts in his
brother. Presumably, they were dizygotic
twins.
Fig 4. Case 1. Right foot: Heads of metatarsals are
flattened. Irregular sclerosis of bone near first MTP joint
and loss of joint space.
were similar to Case 1, but their articular surfaccs
were irregular and both 0 s calcii were foreshortened. Degenerative changes were noted in both
shoulders (Fig 13). T h e patellae were thicker and
denser than normal. Their femoral articular surfaces were irregular, and marginal osteophytes were
present on the superior and inferior surfaces. The
pelvis was asymmetrical with some flaring of the
iliac crests. In the right and left hips, osteoarthritis
was Grade 2 and 4 respectively." A side plate was
observed at the proximal end of the left femur
with a Smith-Peterson pin extending into the left
innominate bone.
58
DISCUSSION
These 2 patients presented an unusual
combination of features which should be
summarized. Flexion contractures of varying degrees of severity were present in their
fingers. No satisfactory explanation can be
advanced for them, but they were not related to the degree of osteoarthritis in
neighboring joints. Mobility was markedly
impaired in the first three MCP joints, in
the first M T P joints, in both hips, and to a
lesser extent, in other joints. The ratio of
the length of the upper segment of the
body to that of the lower was reduced in
Arthritis and Rheumatism, Vol. 13, No. 1 (January-February 1970)
PLATYSPONDYLY AND OSTEOARTHRITIS
Fig 5. Case 1. Pelvis: Loss of hip joint cartilage, moderate sclerotic changes in contiguous portions of
femoral heads and acetabular fossae. Changes more marked on left.
both patients's and the span minus the
height was outside the normal range in
the second casE.18 Both patients were dolichocephalic. Radiograms of the spine
showed platyspondyly, particularly obvious
in the lumbar dorsal segments but progressively diminished in a cephalic direction and undetectable above C6. Lateral
views revealed irregularities on the upper
and lower surfaces of the affected vertebral
bodies. Another radiologic feature was a
widespread symmetrical flattening of articular surfaces, varying in degree, but particularly obvious in the naviculars and at
the heads of all the metacarpals and metatarsals. Frequently, the flattening was accompanied by a symmetrical degeneration
of the overlying articular cartilages which
was most pronounced in the midtarsal, the
first LMTP and the first 3 MCP joints.
Movements were severely restricted or absent at these sites. Osteoarthritis was also
observed in the hips and other joints. T h e
p-2-globulin was absent from the sera of
both patients.
At present, no satisfactory designation
can be affixed to the proband and his affected brother. Cases resembling these patients, showing platyspondyly, contractures
of the fingers, rarefactions at the metacarpal heads and precocious polyarticular osteoarthritis, have been described under the
eponym of Morquio's syndrome or Morquio-Brailsford syndrome.9-16 However, this
condition usually becomes obvious early
in life and commonly produces marked de-
Mhtitis and Rheumatism, Vol. 13, No. 1 (January-Februav 1970)
59
MARTIN Ef A 1
condition have corneal opacities and excrete excessive amounts of keratosulphate
in their urine.“ It is only fair to add that
some authors claim that there is really no
valid basis for a distinction between the
.\Iorquio-Brailsford and Morquio-Ullrich
syndromes, and that thorough investigation
and follow-up will reveal in all cases corneal
opacities and excessive amounts of MPS in
the urine.z0, 24 This opinion concerning the
unity of Morquio’s syndrome has not gone
unchallenged.2”z6 I n view of the lack of
consensus on what constitutes Morquio’s
syndrome or its two divisions, it seemed
wise to avoid using this term to apply to
our patients, especially since they had no
gross disturbances of the bones of the extremities, no extraskeletal defects, and no
abnormal excretion patterns for MPS.
Neither do our patients qualify for inclusion in SDT because in this syndrome
platyspondyly is also universal, its hallmark
being a hump of eburnated bone occupying
all of the central and posterior portions of
the vertebral bodies.3-* T h e precocious
polyarticular osteoarthritis of our patients
showed some resemblance to hereditary
progressive arthro-ophthalmopathy (HPA)26
and to a family described by Rowatt
Fig 6. Case 2. Side View: Note lower dorsal kyphosis.
Brown.” However, our patients did not
have the ocular features of HPA. Platyspondyly of varying degrees of severity was
present in some of Rowatt Brown’s patients,
and to a slight degree, in the lower dorsal
spine of 1 patient with HPA whose radio,grams were sent to us for examination.
However, the configuration of the flattened
vertebra in both of these conditions in no
way resembles that seen in the proband
and his affected brother.
T h e absence of the p-%globulin component requires further elaboration. IdenFig 7. Case 2. Hands: Note contractures most marked
tification of the p-2-globulin in cellulose
in fifth digits and becoming pmgreasively less towards
acetate
electrophoresis refers only to the
radial side.
formities of the extremities.lg9 *o Furthermore, in the Morquio syndrome, platyspondyly affects the entire spine, and the
upper and lower surfaces of the vertebral
bodies are usually ~rnooth.l9~
21-23 A diagnosis of Morquio-Ullrich syndrome need
not be entertained because adults with this
60
Arthritis and Rheumatism, Vol. 13, No. 1 (January-February 1970)
Fig 8. Case 2 Electrophoretic pattern of serum proteins: (left). Normal subject. Case 2 (right). Note absence of 8.2-globulins.
Fig 9. Case 2. Lumbar spine: Lateral view. (left). Tracing of lateral view. (dght). Note platyspondyly. Thin intervertebral discs, irregular superior and inferior
plates. Tongue-like protrusions on anterior surface L3. Severe deformation of L2.
Fig 10. Case 2. Right Hand. Cystic changes in heads of metacarpals with flattening of articular surfaces,
loss of articular cartilage, and sclerosis of subchondral bone. First three MCP joints are the most severely
affected. Identical changes in left hand.
Fig 11. Case 2. Feet: Flattening of metatarsal heads. Irregular sclerosis of bone near first I T P joints
with loss of joint space. Minimal degree of sclerosis in heads of right second, fourth and fifth, and lefl
fourth metatarsals.
MARTIN ET A 1
Fig 12. Case 2. Left Foot: Sclerosis of margins of navicular and loss of joint space. Bony protrusions
on superior surface.
Fig 13. Case 2. Right shoulder: Cystic changes in head of humerus. Sclerosis of opposing surfaces of
head of humerus and glenoid fossa. Joint space narrowed. Similar changes in left shoulder.
'
64
Arthritis and Rheumatism, Vol. 13, No. 1 (January-February 1970)
PUTYSWNDYLY AND OSTEOARTHRITIS
mobility of a protein component and is not
to be confused with the older terminolo&previously employed to define the presence
of the immunoglobulins. Contained within
the p-2-globulin fraction are: plasminogen,
hemopexin, transferrin, the third and fourth
components of complement, small portions
of both IgM -and IgA immunoglobulins,
and a number of minor plasma proteins
which have not been well defined.28 All of
these components cannot be totally absent
in the sera of the patients because transferrin in adequate amounts was present in
Case 2. A number of possibilities might
explain the absence of the p-%globulin
fraction, but none of them give complete
satislaction. For example, it may be postulated that due to a genetic defect, these
individuals lack an enzyme which is required to provide the molecular configuration, subsequently gives rise to a molecular
charge and then allows p-%globulin mobility in cellulose acetate electrophoresis.
Another possibility is that certain components are, in fact, present in the sera of
these 2 patients, but in such concentrations
that they cannot be detected by the technic
employed. It would be premature to comment on the significance of the absence of
the p-%globulin in the sera of the 2 patients
because, to our knowledge, this is the first
record of such a deficiency. A preliminary
survey of the patients' kindred, and spouses
of their kindred revealed that the p-2-globulin component was normal in some but reduced in others. T h e trait may then be of
no pathologic significance, but it may represent a genetic variant which has become
common on the islands because of inbreeding.
During gie survey of the family, investigators looked closely for congenital skeletal
abnormalities other than platyspondyly. An
increased incidence of polysyndactyly has
been reported in the pedigree of patients
with Morquio-Ullrich syndrome.29 This defect was found only in the son of the proband. T h e only other congenital abnormality observed was fusion of the third and
fourth lumbar kertebrae in a male paternal
cousin who also had ostioarthritis oE the
left hip.
Isolated communities provide favorable
environments for the appearance of inheritable connective tissue disorders, and
until recently, these conditions prevailed
on the Magdalen Islands. T h e Frenchspeaking inhabitants of the islands are
descended from a small nucleus of Acadiaiis
who settled there in the latter half of the
eighteenth century.30 Later, shipwrecks provided a few additional settlers, chiefly from
the British Isles, but the basic Acadian
stock has not been greatly diluted by this
admixture.30 Our patients believe that they
are of pure Acadian stock. Their parents
were second cousins, and consanguinous
marriages must have been frequent among
their immediate ancestors. These circumstances would favor the manifestation of an
unlavorable trait.
ACKNOWLEDGMENTS
The authors express their appreciation to
Mr. G. 0. Saxton, former executive director,
Quebec Division, Canadian Arthritis and
Rheumatism Society, for making the arrangements for the family survey in the Magdalen
Islands; to the Eastman Kodak Company of
Canada for providing x-ray films: to the Reverend Sisters St. Jean Gabriel and Francoise Pelletier, former and present directors of the Notre
Dame de la Garde Hospital, Magdalen Islands,
lor arranging for the collection of blood samples
and for permitting the use of their radiologic
equipment; to Dr. David Kaplan of State University of New York, for the urinary mucopolysaccharide estimations; to Dr. Gunnar Stickler
of Rochester, Minn, for sending the radiograms
Arthritis m d Rheumatism, Vol. 13, No. 1 (January-February 1970)
65
MARTIN El A 1
of hereditary progressive arthro-ophthalmopathy; to Mr. Gaston Gervais of the Institute
Genealogique-Drouin of Montreal for providing genealogic inlormation; to Sisters S. St.
Laurent and Mireille Pelchat and Miss Nicolle
Cormier, of the hlagdalen Islands; and to Prof.
C. 1’. Martin, bliss Jacqueline Fauteux, iMiss
Lorraine Blais, and Miss E. A. Sweezey, all of
hlontreal, for technical help and advice.
choridrodystrophy (Morquio’s disease) in three
generations. Lancet 2:430, 1959.
12. MOLDAWER,
M., HANELIN,
J., and BAUER.
M‘. “Familial Precocious Degenerative Arthritis
and the Natural History of Osteochondrodystrophy.” I n Medical and Clinical Aspects 01
Ageing, Blumenthal, H. T., Ed. Columbia, New
York, 1962.
13. CAMERON,
J. hl., and GARDINER,
T. B.
.4typical familial osteochonclrodystrophy. k i t J
Radiol 36:135, 1963.
REFERENCES
14. MARUYAMA,
T., and ECURO,
H. .4 case of
1. JACOBSEN,
A. W. Hereditary osteo-chon- atypical Morquio-Brailsford’s disease, accomdrodystrophia deformans-A family with twenty panied by congenital dislocations of hips and
members affected in five generations. J A h f A knees. Yokohama Afed Bull 15:49, 1964.
11?:121, 1939.
15. l<NICIIT, A. Chondro-osteodystrophy2. HALBERSTAEDTER,
hl. Familial vertebral hlorquio-Brailsford syndrome in a 49-year-old
dystrophy. Brit J Radiol I6:121, 1943.
Negro male. J Aled Ass Georgia 54:243, 1965.
3. ~IAROTEAUX,
P., LAMY,M., and BERNARD, 16. h,fAROTEAI:X, P. T h e First Conference on
J. La dysplasie spondylo-epiphysaire tardive /lie Clinical Delineation of Birth Defects. T h e
(spondyloepiphyseal dysplasia tarda) Presse Johns Hopkins Hospital, Baltimore, May 20-25,
1968, p 83.
Med 65:1205, 1957.
17. “The Epidemiology of Chronic Rheuma4. BARBER,H. S. An unusual form of fatism.”
In Atlns of Standard Radiographs of
milial osteodystrophy. Lancet I:1220, 1960.
Arthritis
(Vol. 2). Blackwell, Oxford. 1963.
5. AUSSANNAIRE,M., CABANES,
J., DUFRENE,
18.
WILKINS,
L., BLIZZARD,
R. M., and MIG
F., and OLIVENSTEIN,
M. U n cas de dysplasie
EON,
C
.
J.
T
h
e
Diagnosis
and
Treatment of
spondylo-epiphysaire tardive (a case of spondyloepiphyseal dysplasia tarda) . Arch Franc Endocrine Disorder in Childhood and Adolescence (ed. 3 ) . Thomas, Springfield, 111, 1965.
Pediat I8:1366, 1961.
p 32.
6. LANCER,L. 0. Spondyloepiphyseal dys19. CAFFEY,J. Pediatric X-Ray Diagnosisplasia tarda. Radiology 82:833, 1964.
A Textbqok for Students (ed. 4). Yr Bk Pub,
7. POKER,N., FINBY, N., and ARCHIBALD,
Chic;igo, 1961.
R. hl. Spondyloepiphyseal dysplasia tarda, four
20. AICKUSICK,V. A., KAPLAN,D., WISE, D.,
cases i n childhood and adolescence and some
HASLEV,W. B., SUDDARTH,
S. B., SEVICK,
M. E.,
considerations regarding platyspondyly. Radio)and MAUMANEE,
A. E. The genetic miicopolyo<gy 85:474, 1965.
saccharidoses. Alerlicine 44:445, 1965.
8. WEINFELD,
A., Ross, M. W., and SARASOHN, 21. SCHENK, E. A. Rlorquio’s disease-A
S. Spondylo-epiphyseal dysplasia tarda-A cause radiological and morphological study. Pediatrics
oE premature osteoarthritis. Amer J Roentgen
?4:839, 1964.
101:851, 1967.
22. BITTER,T., and MUIR,H. A contribution
I).ELLMAN,P. hforquio-Brailsford disease to the differential diagnosis of Hurler’s disease
simulating the arthritic manifestations of rheu- and forms of Rlorquio’s syndrome. J Bone Joint
matoid disease. Ann Rheum Dis 8.267, 1949. Surg 48B:637. 1966.
10. SCHWARTZ,
S. Unsuspected osteo-chondro23. MASSE,P. Les Dystrophies Rachidiennes
dystrophy (h4orquio’s disease) . Arthritis Rheum
Pendant la Croiswnce de 1’Enfant et de 1’Ado2:559, 1959.
lescent (Racliitic Dystrophies of Childhood and
1 1 . LWAS,J. J. P., and BOYLE,A. C. OsteoAdolescence) . ICev Rhum 31.386, 1964.
.
66
Arthritis and Rheumatism, Vol. 13, No. 1 (January-February 1970)
PLATYSPONDYLY AND OSTEOARTHRITIS
24. MAROTEAUX,
P., and LAMY,M. Hurler’s of cliondrodysplastic type. New Zeal Med J
disease, Morquio’s disease and related muco- 65:449, 1966.
polysaccharidoses. J Pediat 672312, 1965.
28. SCHULTZE.
H. E., and HEREMANS,
J. F.
25. GOIDANICH,
I. F., and LENZ,L. Morquio- hlo.lecular Biology of Human Proteins p o l . 1,
Ullrich disease-A new mucopolysaccharidosis. Sect. 2 ) . Elsevier, Amsterdam, 1966, pp 173J Bone Joint Surg 46A.734, 1964.
177.
J. C., and
26. STICKLER,
G. B., BELAU,P. G.. FARRELL, 29. DYCGVE,H. V., MELCHIOR,
J. Morquio-Ullrich’s disease-An inF. J.. JONES,J. D., PUCH,D. G., STEINBERG,CLAUSEN,
A. G., and WARD,L. E. Hereditary progressive born error of metabolism. Arch Dis Child 37:
arthro-ophthalmopathy. Mayo Clin Proc 40: 525, 1962.
30. RUMILLY,R. Les Iles de la Madeleine
438, 1965.
27. ROWAW BROWN,A., and ROSE, B. S. ( T h e Magdalen Islands). Les Editions ChanteFamilial precocious polyarticular osteoarthrosis cler Ltee., Montreal, 1951.
Arthritis and Rheumatism, Vol. 13, No. 1 (January-February 1970)
67
Документ
Категория
Без категории
Просмотров
3
Размер файла
4 082 Кб
Теги
two, globulin, polyarticular, osteoarthritis, brothers, absent, platyspondylic
1/--страниц
Пожаловаться на содержимое документа