572
Communications
We cultured
February .4m. J. Obstrt.
in brief
thank Dr. Hiroyuki cells used in these
Kuramoto experiments.
for
supplying
15, 197s Gynrrnl.
the
REFERENCES
1. Kuramoto, OBSTET.
2.
Williams, 1973.
H.,
Tamura, S., and Notake, 114: 1012, 1972. and Gorski, J.: Biochemistry
D.,
The prenatal diagnosis imperfecta congenita RICHARD KEVIN RICHARD
Y.:
J.
AM.
GYNECOL.
H. J.
HELLER,
WINN, M.
12:
297,
of osteogenesis
M.D.
M.D. HELLER,
Departments of Pediatrics, Johns Hopkins University Baltimore, Maryland
M.D. Pathology, and Radiology, School of Medicine,
hperftxta COIpnita iS a severe, systemic disorder typically associated with numerous, often crippling pathohagic fractures. Death in the perinatal period is commonplace. From a Mendelian, genetic viewOSTEOGENESIS
point, the disease is usually inherited dominant trait with variable penetrance and a sizable proportion of cases arise
as an autosomal, and expressivity, as new mutations.1
Therapeutic efforts to date have been largely inadequate, and cure is not available. Disease which is severe, incurable, crippling, and/or life-shortening has recently received renewed attention, especially from those facilities which provide prenatal diagnostic services. In the past, the infrequent antenatal diagnosis of osteogenesis imperfecta congenita has most often been made during the last few weeks of pregnancy, precluding preventive intervention. The subject of the present case report underwent radiologic examination in the twenty-eighth week of gestation, thereby approaching the limit when therapeutic interruption might be contemplated. The patient was a 24-year-old, white, married woman, para O-O-l-0, who was noted by her obstetrician to have had therapy-resistant pitting edema, polyhydramnios, and an inaudible fetal heartbeat by fetoscopy. Laboratory data obtained during the pregnancy revealed the blood type to be 0 positive, and the Venereal Disease Research Laboratory test was negative. A rubella titer was 1: 160, and a complete blood count was normal. Prenatal visits revealed a weight gain of 31% pounds by 30 weeks of gestation, normal blood pressure readings, and normal urinary findings with the exception of a trace of albuminuria on one occasion. Supported in part tional Foundation-March Reprint requests: 101, Woman’s Clinic, Maryland 2 1205.
by
Grant No. of Dimes.
CE-49,
by
the
Na-
Prenatal Diagnostic Center, Room Johns Hopkins Hospital, Baltimore,
Fig. 1. This supine radiograph of weeks’ gestation demonstrates absent fetal calvarium and limbs. Abnormal identified.
the abdomen visualization vertebrae
at 28 of the may be
Because of the poIyhydramnios, edema, and absent fetal heartbeat, a roentgenologic examination was undertaken in the twenty-eighth week of pregnancy. This study (Fig. 1) revealed poor fetal calcification with no evidence of limbs or cranium and the presence of abnormal vertebral bodies. Careful review of the family history yielded no evidence of skeletal dysplasias or metabolic or hereditary disorders. There was no history of exposure to potential teratogens, e.g., irradiation, infection, drugs, or chemicals. The height of the fundus was 30 cm. above the symphysis pubis, and the fetal heart was unmistakably identified by Doptone. Several hours prior to examination, spontaneous rupture of the membranes occurred, confirmed by a positive fern test. Sonography revealed a single fetus in the vertex presentation with a biparietal diameter of 8.4 cm. A conspicuously large anterior placenta was detected, as were three limbs, with the fourth uncertain. Some 28 hours later, a dismembered, decapitated, stillborn fetus was spontaneously delivered (Fig. 2). At autopsy, the body was dismembered with complete separation of the right foot at the ankle joint and complete separation of the neck from the trunk at the level of the seventh cervical vertebra to the first thoracic vertebra. The anatomic gestational age was estimated to be between 30 and 32 weeks. The mildly macerated skin had a gelatinous texture, and there were several large avulsion
Volume Number
121 4
Communications
in brief
573
analysis. Etiologic heterogeneity, if proved for osteogenesis imperfecta congenita, may suggest that this type may be spontaneously aborted, obviating the need for prenatal diagnosis. We wish to emphasize the need for prudent caution in extrapolating these findings to earlier stages of pregnancy and the need for further study of the normal and affected pregnancy before radiologic examination of osteogenesis imperfecta congenita is considered diagnostically acceptable in the fetus. The authors wish to express appreciation to Drs. Victor A. MC&sick, Jack Rary, Theodore A. Baramki, Roger Sanders, and Christian Richter for their advice and assistance throughout the study. REFERENCES
1. McKusick, V. A.: Heritable Disorders of Connective Tissue, ed. 4, St. Louis, 1972, The C. V. Mosby Company. 2. Penttinen, R. P., Lichtenstein, J. R., Martin, G. R., and McKusick, V. A: Proc. Natl. Acad. Sci. U. S. A. In press.
Fig. 2. A postmortem radiograph of the stillborn, decapitated fetus shows diffuse demineralization of the bones. The tubular bones of the extremities are broad and bowed, which is indicative of fractures and reflects the fragile character of the bones. Note the multiple rib fractures and the diminished height of the vertebral bodies. tears over the body. Histologic examination of the skin revealed thinning of the dermal layer and increased staining with reticulin stain. The eyes had blue sclerae and histologically revealed thinning and hypercellularity of the cornea and sclera. The skeleton contained multiple recent and old fractures which corresponded to those identified by x-ray. Some of the older healing fractures were malaligned. Microscopic examination of the epiphysis of the long bones revealed a normal histologic structure. However, the bone spirules of the metaphysis were thinner than normal, and the osteoid tissue surrounding the calcified cartilage lattice stained with periodic acid-Schiff and reticulin stains. Normal osteoid does not stain with either of these methods. These histologic and gross findings establish the pathologic diagnosis of osteogenesis imperfecta congenita. Whereas normal, antepartum roentgen examinations of the fetus at different developmental stages are essential to establish a sound basis for comparison, the radiographic findings in this case at 28 to 30 weeks of pregnancy are suggestive of the possibility of prenatal diagnosis in patients at high risk for osteogenesis imperfecta congenita. Results of fetal skin culture? suggest etiologic heterogeneity and raise the hope of uncovering the specific biochemical defect responsible for at least one form of this tragic ailment. It remains to be learned if cultured amnionic fluid cells are suitable for prenatal diagnostic
Ruptured pregnant
berry patient
RAYMOND J. F.A.C.O.G.
aneurysm at term
P. BORNO,
in
a
M.D.,
HENRY L. KIRKENDALL, JR., M.D., F.A.C.O.G. BERNARD B. STONE, M.D., F.A.C.N.S MILTON WEINER, M.D. Department Hospital,
of Obstetrics and Gynecology, Worcester, Massachusetts
St. Vincent’s
T H E H I s To R Y of a ruptured berry aneurysm in a patient with term pregnancy some hours prior to the spontaneous onset of labor is reported, making it the one hundred and twenty-eighth documented case in the English literature. The treatment, consisting of elective cesarean section followed 2 days later by a Silverstone clamp on the left internal carotid artery, with an excellent outcome for mother and baby, is discussed, and the literature on the matter is briefly reviewed. Mrs. M. S., 35 years old, para 5-O-O-4, had been followed by her obstetrician at Milford Hospital, in Massachusetts, for an apparently uneventful 38 week pregnancy. On January 9, 1974, in the early morning, she was found unconscious in the bathroom by her husband. A lumbar puncture was performed at Milford Hospital and showed Reprint requests: Dr. Raymond P. Borno, Department of Obstetrics and Gynecology, St. Vincent’s Hospital, 25 Winthrop St., Worcester, Massachuetts 01610.
Communications
We cultured
February .4m. J. Obstrt.
in brief
thank Dr. Hiroyuki cells used in these
Kuramoto experiments.
for
supplying
15, 197s Gynrrnl.
the
REFERENCES
1. Kuramoto, OBSTET.
2.
Williams, 1973.
H.,
Tamura, S., and Notake, 114: 1012, 1972. and Gorski, J.: Biochemistry
D.,
The prenatal diagnosis imperfecta congenita RICHARD KEVIN RICHARD
Y.:
J.
AM.
GYNECOL.
H. J.
HELLER,
WINN, M.
12:
297,
of osteogenesis
M.D.
M.D. HELLER,
Departments of Pediatrics, Johns Hopkins University Baltimore, Maryland
M.D. Pathology, and Radiology, School of Medicine,
hperftxta COIpnita iS a severe, systemic disorder typically associated with numerous, often crippling pathohagic fractures. Death in the perinatal period is commonplace. From a Mendelian, genetic viewOSTEOGENESIS
point, the disease is usually inherited dominant trait with variable penetrance and a sizable proportion of cases arise
as an autosomal, and expressivity, as new mutations.1
Therapeutic efforts to date have been largely inadequate, and cure is not available. Disease which is severe, incurable, crippling, and/or life-shortening has recently received renewed attention, especially from those facilities which provide prenatal diagnostic services. In the past, the infrequent antenatal diagnosis of osteogenesis imperfecta congenita has most often been made during the last few weeks of pregnancy, precluding preventive intervention. The subject of the present case report underwent radiologic examination in the twenty-eighth week of gestation, thereby approaching the limit when therapeutic interruption might be contemplated. The patient was a 24-year-old, white, married woman, para O-O-l-0, who was noted by her obstetrician to have had therapy-resistant pitting edema, polyhydramnios, and an inaudible fetal heartbeat by fetoscopy. Laboratory data obtained during the pregnancy revealed the blood type to be 0 positive, and the Venereal Disease Research Laboratory test was negative. A rubella titer was 1: 160, and a complete blood count was normal. Prenatal visits revealed a weight gain of 31% pounds by 30 weeks of gestation, normal blood pressure readings, and normal urinary findings with the exception of a trace of albuminuria on one occasion. Supported in part tional Foundation-March Reprint requests: 101, Woman’s Clinic, Maryland 2 1205.
by
Grant No. of Dimes.
CE-49,
by
the
Na-
Prenatal Diagnostic Center, Room Johns Hopkins Hospital, Baltimore,
Fig. 1. This supine radiograph of weeks’ gestation demonstrates absent fetal calvarium and limbs. Abnormal identified.
the abdomen visualization vertebrae
at 28 of the may be
Because of the poIyhydramnios, edema, and absent fetal heartbeat, a roentgenologic examination was undertaken in the twenty-eighth week of pregnancy. This study (Fig. 1) revealed poor fetal calcification with no evidence of limbs or cranium and the presence of abnormal vertebral bodies. Careful review of the family history yielded no evidence of skeletal dysplasias or metabolic or hereditary disorders. There was no history of exposure to potential teratogens, e.g., irradiation, infection, drugs, or chemicals. The height of the fundus was 30 cm. above the symphysis pubis, and the fetal heart was unmistakably identified by Doptone. Several hours prior to examination, spontaneous rupture of the membranes occurred, confirmed by a positive fern test. Sonography revealed a single fetus in the vertex presentation with a biparietal diameter of 8.4 cm. A conspicuously large anterior placenta was detected, as were three limbs, with the fourth uncertain. Some 28 hours later, a dismembered, decapitated, stillborn fetus was spontaneously delivered (Fig. 2). At autopsy, the body was dismembered with complete separation of the right foot at the ankle joint and complete separation of the neck from the trunk at the level of the seventh cervical vertebra to the first thoracic vertebra. The anatomic gestational age was estimated to be between 30 and 32 weeks. The mildly macerated skin had a gelatinous texture, and there were several large avulsion
Volume Number
121 4
Communications
in brief
573
analysis. Etiologic heterogeneity, if proved for osteogenesis imperfecta congenita, may suggest that this type may be spontaneously aborted, obviating the need for prenatal diagnosis. We wish to emphasize the need for prudent caution in extrapolating these findings to earlier stages of pregnancy and the need for further study of the normal and affected pregnancy before radiologic examination of osteogenesis imperfecta congenita is considered diagnostically acceptable in the fetus. The authors wish to express appreciation to Drs. Victor A. MC&sick, Jack Rary, Theodore A. Baramki, Roger Sanders, and Christian Richter for their advice and assistance throughout the study. REFERENCES
1. McKusick, V. A.: Heritable Disorders of Connective Tissue, ed. 4, St. Louis, 1972, The C. V. Mosby Company. 2. Penttinen, R. P., Lichtenstein, J. R., Martin, G. R., and McKusick, V. A: Proc. Natl. Acad. Sci. U. S. A. In press.
Fig. 2. A postmortem radiograph of the stillborn, decapitated fetus shows diffuse demineralization of the bones. The tubular bones of the extremities are broad and bowed, which is indicative of fractures and reflects the fragile character of the bones. Note the multiple rib fractures and the diminished height of the vertebral bodies. tears over the body. Histologic examination of the skin revealed thinning of the dermal layer and increased staining with reticulin stain. The eyes had blue sclerae and histologically revealed thinning and hypercellularity of the cornea and sclera. The skeleton contained multiple recent and old fractures which corresponded to those identified by x-ray. Some of the older healing fractures were malaligned. Microscopic examination of the epiphysis of the long bones revealed a normal histologic structure. However, the bone spirules of the metaphysis were thinner than normal, and the osteoid tissue surrounding the calcified cartilage lattice stained with periodic acid-Schiff and reticulin stains. Normal osteoid does not stain with either of these methods. These histologic and gross findings establish the pathologic diagnosis of osteogenesis imperfecta congenita. Whereas normal, antepartum roentgen examinations of the fetus at different developmental stages are essential to establish a sound basis for comparison, the radiographic findings in this case at 28 to 30 weeks of pregnancy are suggestive of the possibility of prenatal diagnosis in patients at high risk for osteogenesis imperfecta congenita. Results of fetal skin culture? suggest etiologic heterogeneity and raise the hope of uncovering the specific biochemical defect responsible for at least one form of this tragic ailment. It remains to be learned if cultured amnionic fluid cells are suitable for prenatal diagnostic
Ruptured pregnant
berry patient
RAYMOND J. F.A.C.O.G.
aneurysm at term
P. BORNO,
in
a
M.D.,
HENRY L. KIRKENDALL, JR., M.D., F.A.C.O.G. BERNARD B. STONE, M.D., F.A.C.N.S MILTON WEINER, M.D. Department Hospital,
of Obstetrics and Gynecology, Worcester, Massachusetts
St. Vincent’s
T H E H I s To R Y of a ruptured berry aneurysm in a patient with term pregnancy some hours prior to the spontaneous onset of labor is reported, making it the one hundred and twenty-eighth documented case in the English literature. The treatment, consisting of elective cesarean section followed 2 days later by a Silverstone clamp on the left internal carotid artery, with an excellent outcome for mother and baby, is discussed, and the literature on the matter is briefly reviewed. Mrs. M. S., 35 years old, para 5-O-O-4, had been followed by her obstetrician at Milford Hospital, in Massachusetts, for an apparently uneventful 38 week pregnancy. On January 9, 1974, in the early morning, she was found unconscious in the bathroom by her husband. A lumbar puncture was performed at Milford Hospital and showed Reprint requests: Dr. Raymond P. Borno, Department of Obstetrics and Gynecology, St. Vincent’s Hospital, 25 Winthrop St., Worcester, Massachuetts 01610.
