The Journal of Laryngology and Otology July 1979. Vol. 93. pp. 697-702.
Bone mineral content in osteogenesis imperfecta tarda and in otosclerosis U. PEDERSEN, H. E. NIELSEN, K. JUUL JENSEN, O. ELBR0ND, and H. HVID HANSEN OSTEOGENESIS imperfecta is a rare, generalized bone and connective-tissue disease of autosomal, dominant heredity. Clinically it manifests itself in a tendency to spontaneous fractures, blue sclerae, hypermobility of the joints, and frequently in a characteristic shape of the face (Seedorff, 1949). It is often accompanied by conductive hearing loss, as first described by Adair-Dighton (1912). Van der Hoeve and de Kleyn (1918) were the first to advance the idea that the hearing impairment was due to otosclerosis, and since then the syndrome has often been known as van der Hoeve's syndrome. Operations on patients with osteogenesis imperfecta and hearing impairment of the conductive type have often shown fixation of the stapes due to new formation of bone in and around the oval window. It has been assumed, therefore, that otosclerosis and osteogenesis imperfecta might be of the same aetiology. The object of the present study was to compare the mineral content in ;he forearm bones of patients with osteogenesis imperfecta and of patients ivith otosclerosis with a view to elucidating a possible common cause of ;he stapedial fixation.
, .. , Patients and methods 3 atients : The material comprises 22 patients with osteogenesis imperfecta (14 emales and 8 males), in the age range 14-78 years (mean 33-1 years, fable I). All had a history of spontaneous fractures and all had blue clerae. Thirteen had hearing impairment. In 10 of these patients the hearing mpairment was due to stapedial fixation confirmed at operation or by the tistory, otoscopy, tuning fork tests, tone-speech audiometry, test of tapedial reflex, tympanometry, and compliance test. One patient had equelae of bilateral otitis and two had perceptive hearing loss. The otosclerotic material consisted of 63 patients (35 females and 28 lales) aged 21-68 years (mean 41-9 years). In all cases the diagnosis of tosclerosis had been verified by operation, and all the patients had underone stapedectomy. rom the Departments of Otorhinolaryngology and Nuclear Medicine, Radium Centre, the lunicipal Hospital and University of Aarhus, DK-8000 AARHUS C, Denmark. 697
698
U. PEDERSEN, H. NIELSEN, K. JENSEN, O. ELBR0ND AND H. HANSEN TABLE I CLINICAL FEATURES OF 2 2 PATIENTS WITH OSTEOGENESIS IMPERFECTA TARDA
Patient
Age/Sex
No. of fractures
Hearing loss, aetiology
1 2
78/M 36/F
multiple
bilat. stapes fix. bilat. stapes fix.
3 4
14/F 65/F
17 10
5 6 7 8 9
29/F 39/F 16/M 24/M 29/M
multiple multiple multiple
10 11 12
48/F 21/M 19/F
multiple
13 14 15 16 17 18 19 20
37/F 28/M 32/F 16/F 17/F 43/F 28/M 46/M
multiple multiple multiple multiple multiple multiple multiple
21 22
43/F 15/F
10 30
No.
10
54 14 1 13 12
normal right-sided stapes fix. bilat. stapes fix. normal normal bilat. stapes fix. left-sided stapes fix. seq. to otitis normal left-sided stapes fix. sensineural loss normal normal normal normal sensineural loss bilat. stapes fix. right-sided stapes fix. bilat. stapes fix. normal
Operations
stapedectomy L-1965, R-1967
stapedectomy, R-1965 stapedectomy, R-1978 stapedectomy, L-1975 bilat. tympanoplasty
stapedectomy, L-1978 stapedectomy, R-1975
All the patients had normal renal function, assessed by the serum creatinine, and none had symptoms or signs of gastrointestinal diseases. Methods: The bone mineral content (BMC) in the forearm was measured by the aid of a GAMMATEC osteodensitometer, model GT 30 with a 50 mCi125I source (Christiansen et ah, 1975). The total width of the radius and ulna (BW) was measured on the densitometric curve, and the mean value for both arms was calculated. The results were expressed in absolute values and in per cent of the mean value for normal persons of the same sex and age. The coefficient of variation in studying the long-term reproducibility of the BMC measurement was around 1 per cent in normal individuals (Christiansen and Rodbro, 1977). In both groups of patients the fasting serum levels of calcium, phosphorus, and alkaline phosphatase were determined. Statistical analysis of the results was by the Mann-Whitney U-test to compare the mean values for the two groups.
BONE MINERAL CONTENT IN OSTEOGENESIS IMPERFECTA TARDA
699
Results Figure 1 presents the bone mineral content (in per cent) of normal mean values (BMC per cent) in patients with osteogenesis imperfecta. Both males and females showed a statistically significant reduction in BMC per cent ( p < 0 0 1 and p < 0 0 1 ) . BMC!
MALES O. 1.
FEMALES Otosclerosis
O.I.
Otosclerosis
140
120
•
•t
ill 100
80-
• •
60-
40-
20
FIG. 1 Bone mineral content, expressed in per cent, of age-and sex-matched normal controls (BMC %) in patients with osteogenesis imperfecta tarda (O.I.) and in patients with otosclerosis.
There was no difference in bone mineral content between patients with and without stapedial fixation. Figure 1 also shows the BMC per cent in patients with otosclerosis. It proved normal in males as well as in females. In the patients with osteogenesis imperfecta, males as well as females, the BMC per cent was significantly reduced as compared with the findings in the otosclerotics (p
Bone mineral content in osteogenesis imperfecta tarda and in otosclerosis U. PEDERSEN, H. E. NIELSEN, K. JUUL JENSEN, O. ELBR0ND, and H. HVID HANSEN OSTEOGENESIS imperfecta is a rare, generalized bone and connective-tissue disease of autosomal, dominant heredity. Clinically it manifests itself in a tendency to spontaneous fractures, blue sclerae, hypermobility of the joints, and frequently in a characteristic shape of the face (Seedorff, 1949). It is often accompanied by conductive hearing loss, as first described by Adair-Dighton (1912). Van der Hoeve and de Kleyn (1918) were the first to advance the idea that the hearing impairment was due to otosclerosis, and since then the syndrome has often been known as van der Hoeve's syndrome. Operations on patients with osteogenesis imperfecta and hearing impairment of the conductive type have often shown fixation of the stapes due to new formation of bone in and around the oval window. It has been assumed, therefore, that otosclerosis and osteogenesis imperfecta might be of the same aetiology. The object of the present study was to compare the mineral content in ;he forearm bones of patients with osteogenesis imperfecta and of patients ivith otosclerosis with a view to elucidating a possible common cause of ;he stapedial fixation.
, .. , Patients and methods 3 atients : The material comprises 22 patients with osteogenesis imperfecta (14 emales and 8 males), in the age range 14-78 years (mean 33-1 years, fable I). All had a history of spontaneous fractures and all had blue clerae. Thirteen had hearing impairment. In 10 of these patients the hearing mpairment was due to stapedial fixation confirmed at operation or by the tistory, otoscopy, tuning fork tests, tone-speech audiometry, test of tapedial reflex, tympanometry, and compliance test. One patient had equelae of bilateral otitis and two had perceptive hearing loss. The otosclerotic material consisted of 63 patients (35 females and 28 lales) aged 21-68 years (mean 41-9 years). In all cases the diagnosis of tosclerosis had been verified by operation, and all the patients had underone stapedectomy. rom the Departments of Otorhinolaryngology and Nuclear Medicine, Radium Centre, the lunicipal Hospital and University of Aarhus, DK-8000 AARHUS C, Denmark. 697
698
U. PEDERSEN, H. NIELSEN, K. JENSEN, O. ELBR0ND AND H. HANSEN TABLE I CLINICAL FEATURES OF 2 2 PATIENTS WITH OSTEOGENESIS IMPERFECTA TARDA
Patient
Age/Sex
No. of fractures
Hearing loss, aetiology
1 2
78/M 36/F
multiple
bilat. stapes fix. bilat. stapes fix.
3 4
14/F 65/F
17 10
5 6 7 8 9
29/F 39/F 16/M 24/M 29/M
multiple multiple multiple
10 11 12
48/F 21/M 19/F
multiple
13 14 15 16 17 18 19 20
37/F 28/M 32/F 16/F 17/F 43/F 28/M 46/M
multiple multiple multiple multiple multiple multiple multiple
21 22
43/F 15/F
10 30
No.
10
54 14 1 13 12
normal right-sided stapes fix. bilat. stapes fix. normal normal bilat. stapes fix. left-sided stapes fix. seq. to otitis normal left-sided stapes fix. sensineural loss normal normal normal normal sensineural loss bilat. stapes fix. right-sided stapes fix. bilat. stapes fix. normal
Operations
stapedectomy L-1965, R-1967
stapedectomy, R-1965 stapedectomy, R-1978 stapedectomy, L-1975 bilat. tympanoplasty
stapedectomy, L-1978 stapedectomy, R-1975
All the patients had normal renal function, assessed by the serum creatinine, and none had symptoms or signs of gastrointestinal diseases. Methods: The bone mineral content (BMC) in the forearm was measured by the aid of a GAMMATEC osteodensitometer, model GT 30 with a 50 mCi125I source (Christiansen et ah, 1975). The total width of the radius and ulna (BW) was measured on the densitometric curve, and the mean value for both arms was calculated. The results were expressed in absolute values and in per cent of the mean value for normal persons of the same sex and age. The coefficient of variation in studying the long-term reproducibility of the BMC measurement was around 1 per cent in normal individuals (Christiansen and Rodbro, 1977). In both groups of patients the fasting serum levels of calcium, phosphorus, and alkaline phosphatase were determined. Statistical analysis of the results was by the Mann-Whitney U-test to compare the mean values for the two groups.
BONE MINERAL CONTENT IN OSTEOGENESIS IMPERFECTA TARDA
699
Results Figure 1 presents the bone mineral content (in per cent) of normal mean values (BMC per cent) in patients with osteogenesis imperfecta. Both males and females showed a statistically significant reduction in BMC per cent ( p < 0 0 1 and p < 0 0 1 ) . BMC!
MALES O. 1.
FEMALES Otosclerosis
O.I.
Otosclerosis
140
120
•
•t
ill 100
80-
• •
60-
40-
20
FIG. 1 Bone mineral content, expressed in per cent, of age-and sex-matched normal controls (BMC %) in patients with osteogenesis imperfecta tarda (O.I.) and in patients with otosclerosis.
There was no difference in bone mineral content between patients with and without stapedial fixation. Figure 1 also shows the BMC per cent in patients with otosclerosis. It proved normal in males as well as in females. In the patients with osteogenesis imperfecta, males as well as females, the BMC per cent was significantly reduced as compared with the findings in the otosclerotics (p
