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Osteogenesis imperfecta (odontogenesis imperfecta)
OSTEOGENESIS
IMPERFECTA
(ODONTOGENESIS
IMPERFECTA)
Report of a Case _____ JEROME S. MITTELMAS,
B.A., D.D.S., NEW YORK, N. Y.
the age of 3 weeks, M. S., who is now 6 years old, has had 9 fractures SINCE of her lower extremities. None of these fractures were caused by any great amount of trauma, and they all healed rapidly. Although she had had poor growth and needs support to stand, her diet has been normal and her appetite good. The diagnosis of her condition was that of osteogenesis imperfecta (fragilitas ossium, hereditary hypoplasia of mesenchyme), a disease of interest to both physician and dentist because of its systemic and oral manifestations. The child is believed to have osteogenesis imperfecta congenitalis, the more severe of the two forms of the disease. This form develops in utero, and its victims may die before or shortly aft,er birth. The other, osteogenesis imperfecta ta,rda, commences at any time during childhood or adolescence. Although the exact cause of the disease is unknown, it appears to follow the Mendelian Law of Heredity, being a dominant, characteristic and possibly possessing sex linkage with the female. Women seem to be the more potent transmitters of the disease. They are affected by it more often than men. M. S’s mother had four children: two were normal, one was a miscarriage, and This ratio is compatible with the M. S., herself, had osteogenesis imperfecta. Mendelian Law of Dominance where one-half of the offspring acquire the dominant characteristic. The disease would appear to be caused by genetic damage to the osteoblasts, which are retarded in function and differentiation. They form too little bone at a decreased rate and produce coa,rse fibrillar bone when we shoulcl see lamellated bone developing. Radiographic studies of the child showed that the long bones were markedly underdeveloped, especially the fibulae which were only pencil-thin. The principal pathologic change appeared to be la.ck of the normal compact layer in the diaphyses of the long bones, mandible, and, to a lesser degree, in t,he other bones. Growth in thickness was impaired as it depended on osteoSeveral sites of previous fractures appeared. blastic activity in the periosteum. All the bones showed degenerative demineralization, which added to the fragility of the bones. Trabeculae appeared lacelike and most delicate. There was marked generalized collapse of all of the vertebral bodies which presented marked concavities on their superior and inferior aspects. Some of the vertebrae were wafer-thin which created her typical stumpy stature. Kyphoscoliosis was quite apparent, adding to the dwarflike appearance. Bones of the ca.lvarium showed great evidence of demineralization. 1562
~~TEOG~ESIS
IMPERFECTA
(~D~IW~GENESIS
Fig.
1.
Fig.
2.
Fig.
3.
IBIPERFECTA)
1563
1564
JEROME
S. MITTELMAN
The connective tissue throughout the body is usually more friable and delicate than normal. The sclera is commonly thin and translucent, manifesting itself as blue. This, and the fact that otosclerosis, leading to deafness, may occur in later years gives rise to the Lobstien syndrome of blue sclera and deafness associated with osteogenesis imperfecta. Fractures in these cases heal rapidly but unite with a cartilaginous callus. Bony replacement is very retarded. Concerning prognosis, it is interesting to note that fractures occur less frequently with age; at times fragility will disappear at puberty. There is no specific treatment for the disease. Attempts to cure by means of hormonal or dietary therapy have failed, as might be expected in cases of genetic anomaly. Orally, the condition is manifest as odontogenesis imperfecta or hereditary opalescent dentine, which may or may not occur associated with osteogenesis imperfecta. Again, women are affected in larger number by this disease than are men. M. S.‘s teeth had a homogeneous amberlike translucency, although her first permanent molars were grayish. On eruption, the crowns had a steelgray appearance, but acquired the opalescence with time. Both permanent and deciduous teeth were affected. It might be of interest to note that a theory on the cause of the color phenomenon of these teeth says that vascular inclusion in the adventitious dentine gives rise to the amber-hued appearance. The color changes seem more marked in the anterior teeth. M. S. had a normal number and a fairly good arrangement of the dentition. The occlusal surfaces of the deciduous molars were worn flat, not unlike that found in the aged. Where the enamel is worn through, we see dark dentine surrounded by the normal enamel. The dentine is soft, though not abnormally susceptible to decay processes. Radiographic study of the teeth shows that the roots are disproportionately short in size when compared with the crowns. Adventitious dentine fills the pulp chambers so that crowns appear solid. 30 EAST 60~~ ST.
IMPERFECTA
(ODONTOGENESIS
IMPERFECTA)
Report of a Case _____ JEROME S. MITTELMAS,
B.A., D.D.S., NEW YORK, N. Y.
the age of 3 weeks, M. S., who is now 6 years old, has had 9 fractures SINCE of her lower extremities. None of these fractures were caused by any great amount of trauma, and they all healed rapidly. Although she had had poor growth and needs support to stand, her diet has been normal and her appetite good. The diagnosis of her condition was that of osteogenesis imperfecta (fragilitas ossium, hereditary hypoplasia of mesenchyme), a disease of interest to both physician and dentist because of its systemic and oral manifestations. The child is believed to have osteogenesis imperfecta congenitalis, the more severe of the two forms of the disease. This form develops in utero, and its victims may die before or shortly aft,er birth. The other, osteogenesis imperfecta ta,rda, commences at any time during childhood or adolescence. Although the exact cause of the disease is unknown, it appears to follow the Mendelian Law of Heredity, being a dominant, characteristic and possibly possessing sex linkage with the female. Women seem to be the more potent transmitters of the disease. They are affected by it more often than men. M. S’s mother had four children: two were normal, one was a miscarriage, and This ratio is compatible with the M. S., herself, had osteogenesis imperfecta. Mendelian Law of Dominance where one-half of the offspring acquire the dominant characteristic. The disease would appear to be caused by genetic damage to the osteoblasts, which are retarded in function and differentiation. They form too little bone at a decreased rate and produce coa,rse fibrillar bone when we shoulcl see lamellated bone developing. Radiographic studies of the child showed that the long bones were markedly underdeveloped, especially the fibulae which were only pencil-thin. The principal pathologic change appeared to be la.ck of the normal compact layer in the diaphyses of the long bones, mandible, and, to a lesser degree, in t,he other bones. Growth in thickness was impaired as it depended on osteoSeveral sites of previous fractures appeared. blastic activity in the periosteum. All the bones showed degenerative demineralization, which added to the fragility of the bones. Trabeculae appeared lacelike and most delicate. There was marked generalized collapse of all of the vertebral bodies which presented marked concavities on their superior and inferior aspects. Some of the vertebrae were wafer-thin which created her typical stumpy stature. Kyphoscoliosis was quite apparent, adding to the dwarflike appearance. Bones of the ca.lvarium showed great evidence of demineralization. 1562
~~TEOG~ESIS
IMPERFECTA
(~D~IW~GENESIS
Fig.
1.
Fig.
2.
Fig.
3.
IBIPERFECTA)
1563
1564
JEROME
S. MITTELMAN
The connective tissue throughout the body is usually more friable and delicate than normal. The sclera is commonly thin and translucent, manifesting itself as blue. This, and the fact that otosclerosis, leading to deafness, may occur in later years gives rise to the Lobstien syndrome of blue sclera and deafness associated with osteogenesis imperfecta. Fractures in these cases heal rapidly but unite with a cartilaginous callus. Bony replacement is very retarded. Concerning prognosis, it is interesting to note that fractures occur less frequently with age; at times fragility will disappear at puberty. There is no specific treatment for the disease. Attempts to cure by means of hormonal or dietary therapy have failed, as might be expected in cases of genetic anomaly. Orally, the condition is manifest as odontogenesis imperfecta or hereditary opalescent dentine, which may or may not occur associated with osteogenesis imperfecta. Again, women are affected in larger number by this disease than are men. M. S.‘s teeth had a homogeneous amberlike translucency, although her first permanent molars were grayish. On eruption, the crowns had a steelgray appearance, but acquired the opalescence with time. Both permanent and deciduous teeth were affected. It might be of interest to note that a theory on the cause of the color phenomenon of these teeth says that vascular inclusion in the adventitious dentine gives rise to the amber-hued appearance. The color changes seem more marked in the anterior teeth. M. S. had a normal number and a fairly good arrangement of the dentition. The occlusal surfaces of the deciduous molars were worn flat, not unlike that found in the aged. Where the enamel is worn through, we see dark dentine surrounded by the normal enamel. The dentine is soft, though not abnormally susceptible to decay processes. Radiographic study of the teeth shows that the roots are disproportionately short in size when compared with the crowns. Adventitious dentine fills the pulp chambers so that crowns appear solid. 30 EAST 60~~ ST.