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Report of a case of osteogenesis imperfecta in twins
REPORT
OF A CASE
BY W. E. WELZ,”
M.D.,
OF OSTEOGENESIS IN TWINS
IMPERFECTA
F.A.C.S.,
AND B. L. LIEBERMAN, MICH. Service, Herman Eicfsr Hospital)
B.S., M.D.
DETROIT, (From
the
Obstetrical
imperfecta is a condition of marked fragility of 0 STEOGENESIS the long bones, due to a failure of deposition of calcium salts, with a resultant predisposition toward easy fracture. may manifest itself at three periods in life: 1. Prenatal, intrauterine fractures. 2. Infantile, fractures occurring from 3. Adult type.
The disease
one to three years of age.
The entire subject is surrounded by a great deal of obscurity; the various contributions, although dealing with the identical condition, yet differing in detail, have had difficulty with the nomenclature of fetal bone diseases, with the result that there has arisen a great deal of confusion and a complicated terminology which has helped confuse the entire subject. Ballantyne,l in 1902, listed under this heading the following terms: fetal rickets, intrauterine rickets, mieromelic rickets, annular rickets, chondritis fetalis, pseudochondritis, achondroplasia, chondrodystrophia fetalis, congenital cretinism, osteoporosis, osteopathyrosis, and rachitis congenita. More recently (1916) Blaine* simmered the nomenclature down to the term fetal osteopathyrosis, covering the older terms of osteogenesis imperfecta, fetal rickets, osteomalacia congenita, and Lobstein’s disease. In 1924, Lewir? suggested the term osteochondrogenesis imperfecta; whereas, in 1926, Dorland and Hubeny4 used the term fragilitas ossium. The outstanding characteristic of the disease is the marked brittleness of the bone and the great ease with which fractures may occur. The long bones of the extremities, the ribs, and the clavicles may have numerous fractures due to abnormal thinning of the cortex (Fig. 2). Hochsinge? called attention to the marked thinning of the skull bones. As a result of these’ bone changes there occur various deformities, shortenings, and curvatures (Fig. 1). The general condition of the child remains, as a rule, normal. This tendency toward fracture has been noted by many observers, Ballantynel quoted a case of Chaussier which occurred in 1812 in which, following a spontaneous birth, there were counted between 50 and 100 fractures. Harbitz,” Linck,Q Griffith,5 and Satanowsky lo have recorded interesting cases of this description. *Deceased. 49
50
THE
AMERICAN
JOURNAL
OF
OBSTETRICS
AND
GYNECOLOGY
In a survey of this condition, Burmeiste? offers an objection to the term “intrauterine fracture,” maintaining that ossification has not progressed enough to permit actual fracture. Von Reuss,ll quoting Sumita, describes the essential changes in the skeleton as a disturbance of the periosteal and endosteal formation of bone with undisturbed, almost normal course of the endochondral process of ossification (Fig. 4). As the callus calcifies fairly rapidly, annular swellings may develop on the long bones and ribs, and the fractured parts may assume a deformed appearance (Fig. 3). The shortening of the extremities occurring from multiple fractures is always only apparent, and the similarity with chondrodyst~ophic micromelia only
Fig.
L-Gross
deformities ing
in the extremities with apparent shortening in malposition of neonatal fractures.
due
to heal-
external. Lewin and Jenkinson write that the changes in osteogenesis imperfecta usually occur in the shafts of t,he long bones, the joints being uninvolved. Fractures may be numerous, which condition is rare in achondroplasia. There is a general decalcification of the bones, making it difficult to obtain a good roentgen film. In achondroplasia the gross changes are in the epiphyses, whereas in this condition the epiphyses are intact (Fig. 5). The two conditions may be associated. Nothing definite is known regarding the etiology of osteogenesis imperfecta. Thyrogenous causes, inflammation, trophic disturbances, maternal influences, etc., have been advanced, none of which is tenable.
WELZ
AND
LIEBERMAN:
OSTEOQENESIS
IMPERFECTA
IN
TWINS
51
The latest and most, plausible theory is that of Dorland and Hubeny,” who believe it is due to a nutritional disturbance, permitting the occurence of fetal fractures in the absence of traumatism, brought about by an arrest of the deposit of lime salts in the skeletal andage.
Fig.
2.-Multiple
healed
intrauterine
fractures
as
well
as
recent
ones.
We desire to report the following case of osteogenesis imperfecta in single ovum twins, not only because it represents a perfect case showing multiple healed intrauterine fractures as well as recent ones, but also because we were fortunate enough to obtain blood calcium determinations on both mother and second twin.
52
THE
AMERICAN
JOURNAL
OF
OBSTETRIC’S
AND
GYNECOLOGY
Mrs. J. K., age 25, para v, colored. Four previous normal deliveries. No tory of raehitis in mother or children. Husband’s history negative. Physical amination revealed no abnormalities. Patient was delivered of single ovum female twins by a colored midwife 9:OO
A.&I.,
Nov.
13,
1926,
after
being
in
labor
nine
Fig.
t-Section
through increase
a.rea of old united intrauterine in connective tissue and callus
fracture. formation.
Fig.
$.-Section
through indicate
the epiphyseal either rachitic
no marked changes.
line. There are or achondroplastic
hours.
Each
Note
child
the
hisex-
was
at a
marked
abnormalities
to
breech presentation. The midwife called for as&stance from a physician, but before he arrived delivery was effected. Upon his arrival the physician advised immediate removal to the hospital. The patient was admitted to the h,ospital at 12:15 P.M. Examination of the twins by the house physician revealed that each had multiple
WELZ
AND
LIEBERMAN:
OSTEOGENESIS
IMPERE’ECTA
IN
TWINS
53
fractures
of the extremities and ribs. From the history of breech presentation and delivery by a midwife, it was thought best to notify the prenatal clinic of the Department of Health and also the police department. The midwife was im mediately apprehended and stated that she made no attempt at interference during the delivery, each child being born spontaneously. In the meantime, roentgen examination revealed an osteogenesis imperfecta. The first baby died in nine hours. the second in fourteen hours. Blood calcium determinations showed in the mother, S.9 and in the second baby, 10.1 (Courtesy Dr. 8itlda1, Ford Hospital). The blood Wassermann was negative. Roentgen, report by Dr. Birkelo, on a single roentgenogram of the entire bodyof baby No. 2. There was a fracture of nearly every bone in the upper and lower extremities in various stages of healing, also healed fractures of most of the ribs on both sides. There was a marked deformity in both femurs due to healing in malposition. There was no evidence ,of injury to the spine. The clavicles appeared to have escaped injury. The cpiphys~s of the tibia on both sides showrd a dense straight line of hone deposit.
Fig.
5.-.Section straight
Baby NO. been fractured
through the epiphyseal and regular. New bone 1 had a condition in this case.
nearly
line at the periosteal deposit on the periosteal identical.
btopsy report by Dr. Amolsch of baby be 1900 grams, and the weight of thymus, weight of 1:158. The weight of the thyroid to body weight 1:360.
Roth
The line border. side is scant.
c.lavicles
appear
to
is
have
Xo. 2, showed the weight of body to 12 grams, a ratio of thymus to body was 5 grams, and the ratio of thyroid
There was relative shortening of the extremities. Bowing outward of the humeri, radii, ulnae, femore, and bowing ventrally of tibiae; shortening of the anteroposterior axis of the thorax; slight flattening of the head in any postural change, and borderline thickening at about the center of all the long bones, including the clavicles and ribs. Recent fractures across the shafts of most of the long bones generally about 0.5 centimeter from the epiphyses, in some cases at the midpoint, in a few at the lower third. The bones bony plates,
of the head fairly rigid,
showed very being present
deficient at the
ossification and calcification, bases of the frontal and
small occipital
54
THE
AYERICAN
JOURNAL
OF
OBSTETRICS
AND
QYNECOLOGY
bones. The remainder of the celvarium showed only imperfect thin plates of bone, largely membranous in character. The articulating cartilages and cartilaginous bones were not deformed and the epiphyses were normal. The periosteum was grossly normal. The shafts of the long bones showed a very thin calcified cortex. The nodular thickenings were due to fibrous and deficient bony callus formation in the shaft but did not involve the periosteum. The first baby weighed 1750 ‘rams, the thymus, 11.85 grams, with a ratio of thymus to body weight of 1:157. The thyroid weighed 4.85 grams, with a ratio of thyroid to body weight of 1:380. The distribution, type, and number of skeletal changes were essentially the same as in the other fetus. Body length, 42 em. REFERENCES (1) BaZZantyne: Manual of Antenatal Pathology and Hygiene, Edinburgh, 1902, Wm. Green and Sons, p. 335. (2) BZai%e: Am. Jour. Raentgenol., September, 3916, iii, 438. (3) Bwrmeister: Ruge’s Festschrift, Berlin, 1896, Karger, p. 215. (4) Dorlalzd and Hubeny : The S-Ray in Embryolo, and Obstetrics, St. Paul, 1926, Bruce Pub. Co., p. 148. (5) Grifith: Am. Jour. Med. SC., 1897, &ii, 426. (6) IIarbitz : Ziegler’s Beitr., 1901, xxx, 605. (7) Hochsiwger: Verhandl. d. Ges. f. Kinderheilk:, 1908, 233. (8) Lewin and Jentinson: Am. Jour. Roentgenol., Arch. f. Gynlk., 1887, xxx, 264. (10) * Abst Jour. Am. Med. Assn., 1920, lxxiv, 212. (11) Van &%&as: Diseases of the Ne$ Born, New York, 1921, Wm. Wood and Co. 1507
HOLDEN
Spencer: Rupture ccviii, 425.
AVE.
and Avulsion
of the Uterus at the Time of Labor.
Lancet, 1925,
The uterus or vagina may rupture spontaneously, even in cases with a normal pelvis and apparently normal tissues. The author has seen two such cases. The more common causes of rupture, however, are version in cases of shoulder presentation and the use of forceps before the cervix is sufficiently dilated. Very little additional force would be required in these cases to produce avulsion as well. Conservative treatment is stressed in the treatment of these conditions. The patient is usually shocked and suffering from hemorrhage. Transportation of such individuals is almost certain to result fatally. The clots should be removed and the abdomen washed out with salt solution. A vaginal iodoform pack should be left in place for a few days and the patient kept absolutely quiet. Patients treated in this manner recover. This is shown by the detailed report of seven eases obtained from the literature and reviewed by the author. NORMAN F. MILLER.
OF A CASE
BY W. E. WELZ,”
M.D.,
OF OSTEOGENESIS IN TWINS
IMPERFECTA
F.A.C.S.,
AND B. L. LIEBERMAN, MICH. Service, Herman Eicfsr Hospital)
B.S., M.D.
DETROIT, (From
the
Obstetrical
imperfecta is a condition of marked fragility of 0 STEOGENESIS the long bones, due to a failure of deposition of calcium salts, with a resultant predisposition toward easy fracture. may manifest itself at three periods in life: 1. Prenatal, intrauterine fractures. 2. Infantile, fractures occurring from 3. Adult type.
The disease
one to three years of age.
The entire subject is surrounded by a great deal of obscurity; the various contributions, although dealing with the identical condition, yet differing in detail, have had difficulty with the nomenclature of fetal bone diseases, with the result that there has arisen a great deal of confusion and a complicated terminology which has helped confuse the entire subject. Ballantyne,l in 1902, listed under this heading the following terms: fetal rickets, intrauterine rickets, mieromelic rickets, annular rickets, chondritis fetalis, pseudochondritis, achondroplasia, chondrodystrophia fetalis, congenital cretinism, osteoporosis, osteopathyrosis, and rachitis congenita. More recently (1916) Blaine* simmered the nomenclature down to the term fetal osteopathyrosis, covering the older terms of osteogenesis imperfecta, fetal rickets, osteomalacia congenita, and Lobstein’s disease. In 1924, Lewir? suggested the term osteochondrogenesis imperfecta; whereas, in 1926, Dorland and Hubeny4 used the term fragilitas ossium. The outstanding characteristic of the disease is the marked brittleness of the bone and the great ease with which fractures may occur. The long bones of the extremities, the ribs, and the clavicles may have numerous fractures due to abnormal thinning of the cortex (Fig. 2). Hochsinge? called attention to the marked thinning of the skull bones. As a result of these’ bone changes there occur various deformities, shortenings, and curvatures (Fig. 1). The general condition of the child remains, as a rule, normal. This tendency toward fracture has been noted by many observers, Ballantynel quoted a case of Chaussier which occurred in 1812 in which, following a spontaneous birth, there were counted between 50 and 100 fractures. Harbitz,” Linck,Q Griffith,5 and Satanowsky lo have recorded interesting cases of this description. *Deceased. 49
50
THE
AMERICAN
JOURNAL
OF
OBSTETRICS
AND
GYNECOLOGY
In a survey of this condition, Burmeiste? offers an objection to the term “intrauterine fracture,” maintaining that ossification has not progressed enough to permit actual fracture. Von Reuss,ll quoting Sumita, describes the essential changes in the skeleton as a disturbance of the periosteal and endosteal formation of bone with undisturbed, almost normal course of the endochondral process of ossification (Fig. 4). As the callus calcifies fairly rapidly, annular swellings may develop on the long bones and ribs, and the fractured parts may assume a deformed appearance (Fig. 3). The shortening of the extremities occurring from multiple fractures is always only apparent, and the similarity with chondrodyst~ophic micromelia only
Fig.
L-Gross
deformities ing
in the extremities with apparent shortening in malposition of neonatal fractures.
due
to heal-
external. Lewin and Jenkinson write that the changes in osteogenesis imperfecta usually occur in the shafts of t,he long bones, the joints being uninvolved. Fractures may be numerous, which condition is rare in achondroplasia. There is a general decalcification of the bones, making it difficult to obtain a good roentgen film. In achondroplasia the gross changes are in the epiphyses, whereas in this condition the epiphyses are intact (Fig. 5). The two conditions may be associated. Nothing definite is known regarding the etiology of osteogenesis imperfecta. Thyrogenous causes, inflammation, trophic disturbances, maternal influences, etc., have been advanced, none of which is tenable.
WELZ
AND
LIEBERMAN:
OSTEOQENESIS
IMPERFECTA
IN
TWINS
51
The latest and most, plausible theory is that of Dorland and Hubeny,” who believe it is due to a nutritional disturbance, permitting the occurence of fetal fractures in the absence of traumatism, brought about by an arrest of the deposit of lime salts in the skeletal andage.
Fig.
2.-Multiple
healed
intrauterine
fractures
as
well
as
recent
ones.
We desire to report the following case of osteogenesis imperfecta in single ovum twins, not only because it represents a perfect case showing multiple healed intrauterine fractures as well as recent ones, but also because we were fortunate enough to obtain blood calcium determinations on both mother and second twin.
52
THE
AMERICAN
JOURNAL
OF
OBSTETRIC’S
AND
GYNECOLOGY
Mrs. J. K., age 25, para v, colored. Four previous normal deliveries. No tory of raehitis in mother or children. Husband’s history negative. Physical amination revealed no abnormalities. Patient was delivered of single ovum female twins by a colored midwife 9:OO
A.&I.,
Nov.
13,
1926,
after
being
in
labor
nine
Fig.
t-Section
through increase
a.rea of old united intrauterine in connective tissue and callus
fracture. formation.
Fig.
$.-Section
through indicate
the epiphyseal either rachitic
no marked changes.
line. There are or achondroplastic
hours.
Each
Note
child
the
hisex-
was
at a
marked
abnormalities
to
breech presentation. The midwife called for as&stance from a physician, but before he arrived delivery was effected. Upon his arrival the physician advised immediate removal to the hospital. The patient was admitted to the h,ospital at 12:15 P.M. Examination of the twins by the house physician revealed that each had multiple
WELZ
AND
LIEBERMAN:
OSTEOGENESIS
IMPERE’ECTA
IN
TWINS
53
fractures
of the extremities and ribs. From the history of breech presentation and delivery by a midwife, it was thought best to notify the prenatal clinic of the Department of Health and also the police department. The midwife was im mediately apprehended and stated that she made no attempt at interference during the delivery, each child being born spontaneously. In the meantime, roentgen examination revealed an osteogenesis imperfecta. The first baby died in nine hours. the second in fourteen hours. Blood calcium determinations showed in the mother, S.9 and in the second baby, 10.1 (Courtesy Dr. 8itlda1, Ford Hospital). The blood Wassermann was negative. Roentgen, report by Dr. Birkelo, on a single roentgenogram of the entire bodyof baby No. 2. There was a fracture of nearly every bone in the upper and lower extremities in various stages of healing, also healed fractures of most of the ribs on both sides. There was a marked deformity in both femurs due to healing in malposition. There was no evidence ,of injury to the spine. The clavicles appeared to have escaped injury. The cpiphys~s of the tibia on both sides showrd a dense straight line of hone deposit.
Fig.
5.-.Section straight
Baby NO. been fractured
through the epiphyseal and regular. New bone 1 had a condition in this case.
nearly
line at the periosteal deposit on the periosteal identical.
btopsy report by Dr. Amolsch of baby be 1900 grams, and the weight of thymus, weight of 1:158. The weight of the thyroid to body weight 1:360.
Roth
The line border. side is scant.
c.lavicles
appear
to
is
have
Xo. 2, showed the weight of body to 12 grams, a ratio of thymus to body was 5 grams, and the ratio of thyroid
There was relative shortening of the extremities. Bowing outward of the humeri, radii, ulnae, femore, and bowing ventrally of tibiae; shortening of the anteroposterior axis of the thorax; slight flattening of the head in any postural change, and borderline thickening at about the center of all the long bones, including the clavicles and ribs. Recent fractures across the shafts of most of the long bones generally about 0.5 centimeter from the epiphyses, in some cases at the midpoint, in a few at the lower third. The bones bony plates,
of the head fairly rigid,
showed very being present
deficient at the
ossification and calcification, bases of the frontal and
small occipital
54
THE
AYERICAN
JOURNAL
OF
OBSTETRICS
AND
QYNECOLOGY
bones. The remainder of the celvarium showed only imperfect thin plates of bone, largely membranous in character. The articulating cartilages and cartilaginous bones were not deformed and the epiphyses were normal. The periosteum was grossly normal. The shafts of the long bones showed a very thin calcified cortex. The nodular thickenings were due to fibrous and deficient bony callus formation in the shaft but did not involve the periosteum. The first baby weighed 1750 ‘rams, the thymus, 11.85 grams, with a ratio of thymus to body weight of 1:157. The thyroid weighed 4.85 grams, with a ratio of thyroid to body weight of 1:380. The distribution, type, and number of skeletal changes were essentially the same as in the other fetus. Body length, 42 em. REFERENCES (1) BaZZantyne: Manual of Antenatal Pathology and Hygiene, Edinburgh, 1902, Wm. Green and Sons, p. 335. (2) BZai%e: Am. Jour. Raentgenol., September, 3916, iii, 438. (3) Bwrmeister: Ruge’s Festschrift, Berlin, 1896, Karger, p. 215. (4) Dorlalzd and Hubeny : The S-Ray in Embryolo, and Obstetrics, St. Paul, 1926, Bruce Pub. Co., p. 148. (5) Grifith: Am. Jour. Med. SC., 1897, &ii, 426. (6) IIarbitz : Ziegler’s Beitr., 1901, xxx, 605. (7) Hochsiwger: Verhandl. d. Ges. f. Kinderheilk:, 1908, 233. (8) Lewin and Jentinson: Am. Jour. Roentgenol., Arch. f. Gynlk., 1887, xxx, 264. (10) * Abst Jour. Am. Med. Assn., 1920, lxxiv, 212. (11) Van &%&as: Diseases of the Ne$ Born, New York, 1921, Wm. Wood and Co. 1507
HOLDEN
Spencer: Rupture ccviii, 425.
AVE.
and Avulsion
of the Uterus at the Time of Labor.
Lancet, 1925,
The uterus or vagina may rupture spontaneously, even in cases with a normal pelvis and apparently normal tissues. The author has seen two such cases. The more common causes of rupture, however, are version in cases of shoulder presentation and the use of forceps before the cervix is sufficiently dilated. Very little additional force would be required in these cases to produce avulsion as well. Conservative treatment is stressed in the treatment of these conditions. The patient is usually shocked and suffering from hemorrhage. Transportation of such individuals is almost certain to result fatally. The clots should be removed and the abdomen washed out with salt solution. A vaginal iodoform pack should be left in place for a few days and the patient kept absolutely quiet. Patients treated in this manner recover. This is shown by the detailed report of seven eases obtained from the literature and reviewed by the author. NORMAN F. MILLER.