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Osteogenesis imperfecta congenita
OSTEOGENESIS I M P E R F E C T A CONGENITA REPORT OF A CASE IN A NEGRO INFANT
ROLAND B. SCOTT, M.D., A~D CLINTONH. WOODING, JR., M.D. WASHIiNGTOlXT, D. C.
O
STEOGENESIS Imperfects is a rare developmental defect of the mesenehyme Unusual fragility of bone is the most characteristic clinical finding in this interesting syndrome, which may include blue seleras, deafness, and relaxation of the ligaments. The condition has been variously described in the literature as fragilitas ossium, osteopsathyrosis, and Lobstein's disease. According to the time of appearance of symptoms, the disease may be separated into prenatal and postnatal types. The former is termed osteogenesis imperfects eongenita, and multiple fractures are usually evident at birth. In the postnatal varieties, fractures first occur in infancy (osteogenesis imperfecta infantilis) or later childhood (osteogenesis imperfecta tarda, osteopsathyrosis). A dominant mendelian hereditary trait has been observed in the late type; however, the exact etiology of the disease is unknown. More cases have been reported in female than in male children. The influences of race is apparently unknown. Leading pediatric textbooks1 and comprehensive articles ~ in the English literature make little or no reference to the occurrence of the condition in the Negro. Only one case of osteogenesis imperfeeta congenita has been observed among" the Ii,818 Negro newborn infants'delivered at Freedmen's Hospital during the ten-year period from 1938 to 19482 The following case is reported because of the apparent great rarity of this disease, particularly in the Negro race. CASE REPORT
B. H., a 6-day-old Negro male infant, was admitted to Freedmen's Hospital on June 30, 1948, because of deformities of the skull and extremities. The infant was born at another local hospital. The mother enjoyed good health throughout her pregnancy. Labor and delivery were reported as normal and uneventful. The infant weighed 71/2 pounds at birth. The mother was 23 years old and in good health. The only other sibling, a 23-month-old girl, was apparently normal. The family history was negative for bone fragility, bl~e sc]eras, deafness, syphilis, consanguinity, and hereditary conditions. Physical examination revealed a poorly developed but fairly well-nourished infant in no acute distress. Palpation of the skull elicited a boggy, erepitant sensation, most marked in the oceipitoparietal regions. There was a bilateral prominence of the temporal regions. The neck appeared to be unusually short. The left external ear (auricle) was directed downward and outward, placing it at a lower level than its fellow on the right. The se]eras were bluish but not a deep indigo. The ocular fundi, lungs, heart, abdomen, and genitalia all appeared normal. Severe gross deformities were observed in both upper and lower extremities which presented abnormal curvatures and apparent shortening. (Fig. 1.) Roentgenograms of the skull (Fig. 2) showed poorly calcified islands of bone in a lacunar or mosaic pattern. In additio~ there were multiple fractures involving the clavicles, the rib cage, and all of the long bones of the upper and lower extremities. (Fig. 3.) Callus formation was observed in m a n y sites l~rorn the ]Department of Pediatrics of I-Ioward University College of Medicine Pediatric Service of l~reedrnen's Hospital, Washington, ]D. C. 381
a n d the
382
THE
J O U R N A L OF P E D I A T R I C S
surrounding healing fractures. There was generalized osteoporosis. The long bones presented many abnormal curvatures associated with apparent shortening of the shafts. The hemogram and urinalyses were normal. The b]opd Wassermann was negative. The serum calcium and phosphorus were 11 rag. and 6.8 rag. per cent respectively. Alkaline phosphatase was 6 Bodansky units. The infant's
Fig.
1.--Photdgraph
of
infant demonstrating abnormal curvatures tremities with apparent shortening.
and
deformities
of
ex-
course in the hospital was uneventful. He gained weight normally on routine feedings and was discharged on Oct. 18, 1948, at the request of his parents. The infant was seen in the outpatient department one month after discharge. His condition appeared satisfactory at that time. On June 27, 1949, the infant developed an acute attack of dyspnea and died suddenly at home. Autopsy was not performed.
SCOTT A N D " W O O D I N G :
OSTEOGENESIS IMPERFECTA
CONGENITA
383
F i g . 2 . - - R o e n i g e n o g r a m o f t h e s k u l l a n d t h o r ' a x . I s l a n d s of b o n e m a y b e s e e n f o r m i n g a l a c u n a r p a t t e r n in t h e f r o n t a l a n d p a r i e t a l r e g i o n s . A r r o w s p o i n t to f r a c t u r e d c l a v i c l e a n d humerus. T h e r e a r e m u l t i p l e f r a c t u r e s of t h e r i b s .
A, Fig. 3.--RoentgenogI'am
-~,
of b o n e s of A u p p e r a n d B l o w e r r i g h t e x t r e m i t i e s , s h o w i n g f r a c t u r e 8 and abnormal curvatures.
384
THE JOURNAL OF PEDIATRICS DISCUSSION
This infant exhibited the usual physical and roentgenographie findings of osteogenesis imperfecta congenita. In the differential diagnosis congenital rickets and syphilis were excluded on the basis of the history, physical examination, and laboratory data. The apparent shortening of the extremities presented by this infant bore a superficial resemblance to chondrodystrophia. This dwarfing of the extremities in the prenatal form. of osteogenesis imperfecta may be attributed to stress (uterine contractions) operating on an inherent osteomalacia 2~ leading to bending, intrauterine fractures, and secondary angulation with resultant shortening (dwarfing) of the long bones. Moreover, the typical mosaic pattern observed roentgenographieally in the skull , together with the multiple fractures in the clavicles, ribs, and long bones, definitely exclude ehondrodystrophia. There is no satisfactory specific therapy for osteogenesis imperfecta. Afflicted infants should be carefully protected to avoid fractures. When fractures occur, they should be promptly treated to prevent deformity. The fractures usuMly heal rapidly. Therefore care should be taken to avoid prolonged imnlobilization which results in atrophy and increased fragilityr REFERENCES 1. (a) Mitchell and Nelson: Textbook of Pediatric~s, ed. 4~ Philadelphia~ 1945, W. B. Saunders Company. (b) I~olt, L. E., Jr., and MeIntosh, R.: H o l t ' s Diseases of Infancy and Childhood, ed. 11, New York, 1940, D. Appleton-Century Company, Inc. (e) Caffey, John: Pediatric X-ray Diagnosis, Chicago, 1945, The Year Book Publishers, Inc. (d) Shelling, David H.: Brennemann's Practice of Pediatrics, voL 4, Hagerstown, 2r 1948, W. P. Prior Company, Inc. (e) Von l~eu.ss, August Ritter: The Di.seases of tile Newborn~ London, 1921, John Bale, Sons & Danielsson, Ltd. 2. (a) Pairbank, It. A. T.: Osteogenesis Imperfeeta, J. Bone & Joint Surg., 30B: 164, 1948. (b) Bromer, R . S . : Osteogenesis Imperfeeta, Am. J. Roentgenol. 30: 631~ 1933. 3. Scott, R. B., and Jenkins, ~r E.: Unpublished Data~ Freedmen's Hospital, Washington~ D.C. 4. Green, ~V. T.: Personal Communieation~ Children's Medical Center, Boston.
ROLAND B. SCOTT, M.D., A~D CLINTONH. WOODING, JR., M.D. WASHIiNGTOlXT, D. C.
O
STEOGENESIS Imperfects is a rare developmental defect of the mesenehyme Unusual fragility of bone is the most characteristic clinical finding in this interesting syndrome, which may include blue seleras, deafness, and relaxation of the ligaments. The condition has been variously described in the literature as fragilitas ossium, osteopsathyrosis, and Lobstein's disease. According to the time of appearance of symptoms, the disease may be separated into prenatal and postnatal types. The former is termed osteogenesis imperfects eongenita, and multiple fractures are usually evident at birth. In the postnatal varieties, fractures first occur in infancy (osteogenesis imperfecta infantilis) or later childhood (osteogenesis imperfecta tarda, osteopsathyrosis). A dominant mendelian hereditary trait has been observed in the late type; however, the exact etiology of the disease is unknown. More cases have been reported in female than in male children. The influences of race is apparently unknown. Leading pediatric textbooks1 and comprehensive articles ~ in the English literature make little or no reference to the occurrence of the condition in the Negro. Only one case of osteogenesis imperfeeta congenita has been observed among" the Ii,818 Negro newborn infants'delivered at Freedmen's Hospital during the ten-year period from 1938 to 19482 The following case is reported because of the apparent great rarity of this disease, particularly in the Negro race. CASE REPORT
B. H., a 6-day-old Negro male infant, was admitted to Freedmen's Hospital on June 30, 1948, because of deformities of the skull and extremities. The infant was born at another local hospital. The mother enjoyed good health throughout her pregnancy. Labor and delivery were reported as normal and uneventful. The infant weighed 71/2 pounds at birth. The mother was 23 years old and in good health. The only other sibling, a 23-month-old girl, was apparently normal. The family history was negative for bone fragility, bl~e sc]eras, deafness, syphilis, consanguinity, and hereditary conditions. Physical examination revealed a poorly developed but fairly well-nourished infant in no acute distress. Palpation of the skull elicited a boggy, erepitant sensation, most marked in the oceipitoparietal regions. There was a bilateral prominence of the temporal regions. The neck appeared to be unusually short. The left external ear (auricle) was directed downward and outward, placing it at a lower level than its fellow on the right. The se]eras were bluish but not a deep indigo. The ocular fundi, lungs, heart, abdomen, and genitalia all appeared normal. Severe gross deformities were observed in both upper and lower extremities which presented abnormal curvatures and apparent shortening. (Fig. 1.) Roentgenograms of the skull (Fig. 2) showed poorly calcified islands of bone in a lacunar or mosaic pattern. In additio~ there were multiple fractures involving the clavicles, the rib cage, and all of the long bones of the upper and lower extremities. (Fig. 3.) Callus formation was observed in m a n y sites l~rorn the ]Department of Pediatrics of I-Ioward University College of Medicine Pediatric Service of l~reedrnen's Hospital, Washington, ]D. C. 381
a n d the
382
THE
J O U R N A L OF P E D I A T R I C S
surrounding healing fractures. There was generalized osteoporosis. The long bones presented many abnormal curvatures associated with apparent shortening of the shafts. The hemogram and urinalyses were normal. The b]opd Wassermann was negative. The serum calcium and phosphorus were 11 rag. and 6.8 rag. per cent respectively. Alkaline phosphatase was 6 Bodansky units. The infant's
Fig.
1.--Photdgraph
of
infant demonstrating abnormal curvatures tremities with apparent shortening.
and
deformities
of
ex-
course in the hospital was uneventful. He gained weight normally on routine feedings and was discharged on Oct. 18, 1948, at the request of his parents. The infant was seen in the outpatient department one month after discharge. His condition appeared satisfactory at that time. On June 27, 1949, the infant developed an acute attack of dyspnea and died suddenly at home. Autopsy was not performed.
SCOTT A N D " W O O D I N G :
OSTEOGENESIS IMPERFECTA
CONGENITA
383
F i g . 2 . - - R o e n i g e n o g r a m o f t h e s k u l l a n d t h o r ' a x . I s l a n d s of b o n e m a y b e s e e n f o r m i n g a l a c u n a r p a t t e r n in t h e f r o n t a l a n d p a r i e t a l r e g i o n s . A r r o w s p o i n t to f r a c t u r e d c l a v i c l e a n d humerus. T h e r e a r e m u l t i p l e f r a c t u r e s of t h e r i b s .
A, Fig. 3.--RoentgenogI'am
-~,
of b o n e s of A u p p e r a n d B l o w e r r i g h t e x t r e m i t i e s , s h o w i n g f r a c t u r e 8 and abnormal curvatures.
384
THE JOURNAL OF PEDIATRICS DISCUSSION
This infant exhibited the usual physical and roentgenographie findings of osteogenesis imperfecta congenita. In the differential diagnosis congenital rickets and syphilis were excluded on the basis of the history, physical examination, and laboratory data. The apparent shortening of the extremities presented by this infant bore a superficial resemblance to chondrodystrophia. This dwarfing of the extremities in the prenatal form. of osteogenesis imperfecta may be attributed to stress (uterine contractions) operating on an inherent osteomalacia 2~ leading to bending, intrauterine fractures, and secondary angulation with resultant shortening (dwarfing) of the long bones. Moreover, the typical mosaic pattern observed roentgenographieally in the skull , together with the multiple fractures in the clavicles, ribs, and long bones, definitely exclude ehondrodystrophia. There is no satisfactory specific therapy for osteogenesis imperfecta. Afflicted infants should be carefully protected to avoid fractures. When fractures occur, they should be promptly treated to prevent deformity. The fractures usuMly heal rapidly. Therefore care should be taken to avoid prolonged imnlobilization which results in atrophy and increased fragilityr REFERENCES 1. (a) Mitchell and Nelson: Textbook of Pediatric~s, ed. 4~ Philadelphia~ 1945, W. B. Saunders Company. (b) I~olt, L. E., Jr., and MeIntosh, R.: H o l t ' s Diseases of Infancy and Childhood, ed. 11, New York, 1940, D. Appleton-Century Company, Inc. (e) Caffey, John: Pediatric X-ray Diagnosis, Chicago, 1945, The Year Book Publishers, Inc. (d) Shelling, David H.: Brennemann's Practice of Pediatrics, voL 4, Hagerstown, 2r 1948, W. P. Prior Company, Inc. (e) Von l~eu.ss, August Ritter: The Di.seases of tile Newborn~ London, 1921, John Bale, Sons & Danielsson, Ltd. 2. (a) Pairbank, It. A. T.: Osteogenesis Imperfeeta, J. Bone & Joint Surg., 30B: 164, 1948. (b) Bromer, R . S . : Osteogenesis Imperfeeta, Am. J. Roentgenol. 30: 631~ 1933. 3. Scott, R. B., and Jenkins, ~r E.: Unpublished Data~ Freedmen's Hospital, Washington~ D.C. 4. Green, ~V. T.: Personal Communieation~ Children's Medical Center, Boston.