HEAD AND NECK MANIFESTATIONS OF MALIGNANT OSTEOPETROSIS MATTHEW L. WONG, MD THOMAS j. BALKANY, MD JERRY REEVES, MD AU

BY INVI L\ liON

BRUCE W. jAFEK, MD DENVER, COLORADO

Malignant osteopetrosis is the autosomal recessive form of osteopetrosis. Besides anemia, hepatosplenomegaly, and the osteopetrotic bone seen on roentgenogram, the head and neck manifestations are important to the diagnosis and clinical course of this disease. Eye, ear, nose, face, teeth, mandible, maxilla, central nervous system structures, and cranial nerves are often involved.

INTRODUCTION MALIGNANT osteopetrosis is the autosomal, recessive form of osteopetrosis (Albers-Schonberg disease, marble bone disease), usually fatal before adulthood. The etiology is unknown. The incidence is rare, occurring in 1 out of 100,000 to 1 out of 200,000 live births. While the focal aspects of malignant osteopetrosis in the head and neck region have been well described individual-

Iy, especially in the temporal bone, mandible, eye, and teeth, the entire spectrum of head and neck manifestations has not been well described.

HISTORY In 1904 Heinrich Albers-Schonberg,' a German radiologist, first described this disease entity in a 26-year-old man with generalized skeletal sclerosis and multiple fractures. Karshner- coined the term osteopetrosis in 1922. This disease is also called marble bone disease, osteosclerosis fragilis generalisata, or osteopetrosis generalisata. To date, some 450 cases have been described in the literature, and 75 cases of the malignant form of osteopetrosis have been described in the literature.

PATHOGENESIS

Submitted for publication SPJ}t 22, 1977. From the Dopartrnont of Otolaryngology (Drs Wong, Halkanv, and Jafek) and the Division of Pediatric Hematology-Oncology, Department of Pedia"ics (Dr Rer-vcs). University of Colorado Medical Center, Denver. Presented as a Scientiiic POI/pr Presonuuicn: at the Eighty-second Annual Meeting of the American Acadernv of Ophthalmology and Otolaryngology, Dallas, On 2-6, 1977. Reprint requests to Department of Otolaryngology, University of Colorado Medical Center, 4200 E Ninth AVC', Denver. CO 80262 (Dr Wongl.

Malignant osteopetrosis is a genetically inherited, autosomal recessive disease of unknown etiology. It seems that calcified cartilage and primitive bone are not resorbed so that mature adult bone is not formed. This process involves all bone, membranous and endochondral. Histologically, calcified cartilage and primitive bone can be seen in these patients. With this process, the normal bone marrow is obliterated, leading to myelophthisic, normocytic anemia, and extramedullary hematopoiesis with resultant hepatosple-

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nomegaly. The terms osteopetrosis and marble bone disease are derived from the extremely dense radiographic and pathologic appearance, due in part to loss of normal marrow space.

ination was performed. Unfortunately, the temporal bone was not obtained for evaluation.

While multiple fractures of the long bones are common, the healing process procedes at the normal rate and produces normal callus .

RESULTS

MATERIAL

Age All six patients were diagnosed in infancy, from soon after birth to 8 months of age, with the majority diagnosed around 2 to 3 months of age (Fig 1).

The clinical material is from the University of Colorado Medical Center. Over the past 20 years, six cases of malignant osteopetrosis have been seen and studied extensively. Two of these patients were from Colorado. The other four patients were from out of state, but consented to travel to the University of Colorado Medical Center for study. Two of them were from California and two were from Mich igan . A complete multidisciplinary approach was used to evaluate each patien t. Each patient was evaluated by a pediatrician, pediatric hematologist, otolaryngologist, neuro-ophthalmologist, pediatric neurologist, neurosurgeon, and dentist. Other medical sp ecialists were consulted as indicated, especially the orthopedist. The radiologist evaluated all roentgenograms. Skull and chest roentgenograms and skeletal bone surveys were performed on all patients. Computerized axial tomography (CAT) scans were performed on four patients. Temporal bone roentgenograms and temporal bone tomograms were performed on two patients. °

For the otolaryngologic evaluation, the history and physical examination was performed by an experienced otolaryngologist. Audiograms with air-bone components were performed on the patient, as well as impedance tympanograms . One of the patients died at the age of 3 months of infection. A postmortem exam-

Fig 1.-Patient soon afte r birth has malignant osteopetrosis. She is norm al appe aring.

Sex Of six patients, five were male and one was female, contrasting with typical 1:1 male to female ratio . (The number is too small to be of significance.)

PregnancyIBirth All six p regnancies were uneventful. There were no abnormal infections or drug histories during any of the pregnancies. Birth delivery was uneventful.

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Family History Consanguinity occurred in one patient. This occurred between first cousins. One patient had a sibling also with malignant osteopetrosis who died at the age of 6 months of pneumonia. Since this sibling died elsewhere, he was not able to be studied and not included in this paper. Five patients had a negative family history of osteopetrosis.

Race There were four Caucasians, one Arab (Semitic), and one mixed CaucasianAsian. No Negroes were in this group.

Initial Symptoms/Mode of Diagnosis Myelophthisic, normocytic anemia, hepatosplenomegaly, and nasal congestion or rhinorrhea were the most common clinical pictures. All six patients had anemia . Four of the six patients had hepatosplenomegaly. Five of six patients were noted to have nasal congestion or rhinorrhea . The diagnosis was made by roentgenogram. The severe anemia and hepatosplenomegaly caused the physicians to admit each patient to the hospital for diagnostic workup when routine roentgenograms revealed the den se bone and establish ed the diagnosis of osteopetrosis. The diagnosis can be made by roentgenograms of the fetu s. Two patients had pelvic roentgenograms taken just before birth. While the initial diagnosis was not made by the radiologist, retrospective examinations of these roentgenograms revealed the dense fetal bones. A third patient had severe anemia noted at birth. Routine postpartum roentgenograms re vealed the dense bone, and the diagnosis was made in this pat ient soon after birth (Fig 2 through 4).

Fig 2.- Roe l1tgeno gr,tm of sku ll. Top , l.ater al view. Bottom , Ante ro pos te rior view. Infant girl has malignant osteo pe tros is. Skull ro entgen ograms were ta ke n soo n alter birth. Dens !' bon e was not ed , especially of bas!' of skull.

Head and Neck Involvement EYE.-Optic nerve atroph y with re sultant blindness is se co nd ary to optic canal en croachment by ost e opetroti c bone.

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Fig 3.-lateral skull roentgenograms of adult with benign osteopetrosis. Similar dense bone is noted. Dense bony changes are similar in benign and malignant forms of osteopetrosis.

Blindness was seen in four of the six patients, all bilaterally. Three of six had bilateral complete blindness with the diagnosis made at 2 to 8 months of age. One patient had bilateral optic nerve atrophy with the right side completely blind and the left side with 20/200 vision. There was no evidence in any of our patients of weakness of the third, fourth, or sixth cranial nerves. EAR.-The auricle was normal in all our patients. The external auditory canals were small bilaterally in one patient. The other five were believed to have normal external auditory canals. The tympanic membranes were norma/ appearing and intact in all six patients; however, all had decreased mobility to positive and negative pneumatic pressure. Impedance tympanograms were performed on five patients, with four showing bilateral TAD and one showing

Fig 4.-Roentgenograms of abdomen, pelvis, and lower extremity of infant with malignant osteopetrosis. Same patient as in Fig 1 and 2. Dense bone is present but not as evident.

bilateral TAS' The one infant who died at 3 months of age did not have a tympanogram . Audiograms with air-bone components were completed on four patients. All four showed a normal sensorineural component and a 30- to 50-dB conductive loss. The one infant who died at 3 months of age had grossly intact hearing to noisebehavioral hearing testing. At this age, severe hearing loss can be determined, but mild to moderate hearing loss cannot be accurately ascertained. One patient was not testable, and a repeat audiogram was not performed before he went home. Three of our patients had otitis media. Two had multiple episodes of acute bac-

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terial otitis media. A third patient had bilateral mucoid otitis media, which resolved following tympanostomy tube placement. No evidence of dizziness or vertigo was noted in any of the patients, FACIAL NERVE.-Three of six patients had facial nerve paresis/paralysis. Two were bilateral and one was unilateral (right side). The one patient with the unilateral (right) facial nerve dysfunction had a complete facial nerve paralysis with good tearing. The two patients with bilateral facial nerve functional losses were mixed. One patient had a right facial nerve paresis noted at 9 months of age without progression and a left complete facial nerve paralysis with good tearing noted at 3 years of age. The other patient had a right complete facial nerve paralysis and a left facial nerve paresis, first noted at 3 months of age. His tearing was intact.

There appears to be no correlation between optic nerve atrophy and facial nerve dysfunction. Two of three patients with facial nerve paralysis had blindness and one patient had good vision. Two of four patients with blindness and facial nerve paralysis and two of the four patients with blindness had normal facial nerve function. NOSE.-AII six patients had chronic nasal congestion with chronic rhinorrhea in two. All patients were mouth breathers. Smaller than normal anterior nares were seen in five of six patients. Smaller than normal or minimally developed nasal bones were noted in five patients. One patient had surgical repair of stenotic anterior nares to rr-move bony prominonce in the nostrils, with improvement of upper airway obstruction. Two patients had congestive heart failuro. One was due to a combination of anemia and upper airway obstruction. This patient had right heart failure. Upper airway obstruction was d considerab!e problem in all patients and

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appeared to gradually resolve as they reached 1 to 1 1/ ) years of age. FACE.-Onp patient had frontal bossing with proptosis and ocular hyper telorisrn. The other five had normal facial appearance and development. TEETH.-Thr ee pat ie-nts had carious teeth. Two patients had delayed dental eruption without any teeth noted by 1 year of age. Two patients had prominent alveolar ridge". No mandibular or maxillary osteomyelitis was noted in any of the patients. MANDIBLE.-Three patients had radiographic evidence of hypoplastic mandible. None showed hypertrophic mandible" with class 3 malocclusion. This may be age related. MOUTH.-AII six patients had higharched palates without evidence of cleft lip or palate or submucous cleft. This is a finding not previously mentioned by other observers.

THROAT.-AII six patients had normal throat examination with good gag reflex. lARYNX.-AIi six patients had normal laryngeal examination without any evidonee of vocal cord paralysis. CENTRAL NERVOUS SYSTEM.-HydrocephaIus was noted in five of six patients. This was confirmed with the CAT scan and ultrasound findings. The one patient who died at 3 months of agp had no evidence of hydrocephalus on postmorte-m «xamination. CRANIAL NERVES.-The second, third, fourth, sixth, and seventh rr.mial nerves have been described under the l'ye and facial nerve sections. The 5th, 9th, 10th, and 11th cranial nerves were normal in all patients. One patient had a minimal left 12th nerve palsy with minimal hemiatrophy and dl'nl'ased movement of the left sid« of the tongue.

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MOTORISENSORY.-AII patients had decreased generalized motor tone but no gross sensory deficits. The deep tendon reflexes were a II norma I. INfECTlONS.-1 nfection is reputed to be more common in patients with osteopetrosis. Two patients had infections of a significant nature. One patient died of infection at age 3 months. This patient had, at the time of death, bilateral bacterial otitis media, purulent rhinorrhea, bilateral bronchopneumonia with bilateral lung abscesses, pseudomonas sepsis, and pseudomonas urinary tract infection. The other patient had three episodes of bacterial otitis media, two episodes of left ethmoiditis, and one episode of bronchopneumonia.

Of five patients studied for granulocyte/monocyte-macrophage functions, all had evidence of decreased bacteriocidal killing power of granulocytes and decreased bacteriocidal killing power of monocyte-macrophages. The most severely affected were the two with severe bacterial infections.

Associated Disorders BONE/SKELETAL.- Two

patients had long bone fractures, and one had syndactyly of the second and third toes. HEMATOLOGIc.-AIi six patients had anemia of the myelophthisic normocytic type. One patient had thrombocytopenia purpura. All had evidence of extramedullary hematopoiesis with hepatosplenomegaly. Only one patient had palpable liver and spleen at birth, but of the remaining five, the liver and spleen were palpable by the age of 1 to 8 months, with the majority at 1 to 3 months of age. SERUM CALClUM/pHOSPHORUS.- Two patients had evidence of richetic chest, but the serum calcium and phosphorus were only slightly decreased in all patients. One patient had neonatal hypocalcemia

with tetany soon after birth. later, this patient had only slightly decreased calcium and phosphorus, without any more tetany. The increase in serum alkaline phosphatase parallels the hepatosplenomegaly. GROWTH/DEVELOPMENT.-AII patients had normal birth weight and length. With time, all patients had evidence of growth and developmental retardation. Five patients were less than 3% for weight and length by 3 to 6 months of age. POSTMORTEM

EXAMINATION IN

ONE

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TIENT.- The

only female patient in our group died at the age of 3 months with infection. The findings at postmortem examination were generalized osteopetrosis; normocytic myelophthisic anemia; extramedullary hematopoiesis of lymph nodes, spleen, and larynx; subdural and subarachnoid intracranial hemorrhage at the base of the brain; bronchopneumonia; multiple pulmonary abscesses of the right and left lower lobes; pseudomonas septicemia; and bacterial laryngitis and esophagitis. There was a terminal clinical diagnosis of bacterial otitis media. Unfortunately, the temporal bones were not obtained for examination in this patient. Other pertinent findings were bossing of temperoparietal areas of the skull; normal anterior nose and septum; normal tongue and oral cavity without dental development; normal auricle; normal external auditory canals; and normal larynx in size and shape, but presence of bacterial laryngitis and hematopoietic activity.

DISCUSSION

Osteopetrosis is an inherited disease characterized by the failure of resorption of calcified cartilage and primitive bone leading to failure of normal adult bone formation and obliteralization of marrow space. This process affects both the membranous and endochondral bones. 1 4

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Osteopetrosis is usually divided into the autosomal dominant benign type and the autosomal recessive malignant type. However, many cases of osteopetrosis do not easily fit into these two classifications. Schinz's classification is more useful clinically. He divided osteopetrosis into four types: (1) dominant, little intrafamily variability, mild development, good prognosis; (2) dominant, high intrafamily variability (benign in one generation; severe anemia in the next); (3) recessive, relatively benign course, little variability; (4) recessive subletal gene, great variability, early malignant course.' Johnson! found that in the benign type 45°/" are asymptomatic, 40°'0 to 45% have fractures, cranial neuropathy occurs in 7% to 15%, and osteomyelitis occurs in 8% to 10%. In contrast, he found that in the malignant type optic atrophy occurs in 78%, splenomegaly in 62%, hepatomegaly in 48%, poor growth in 36°i() , frontal bossing in 34%, fractures in 28% , loss of hearing in 22~o, mental retardation in 22%, large heads in 22%, osteomyelitis in 18% , and facial nerve palsy in 10"0. Osteopetrosis has a 1: 1 male to female ratio. Our five males and one female patient may be due to patient selection. Four patients, all males, were referred from out of state for our study. Of the two patients from Colorado, one was male and one female. The diagnosis of the malignant osteopetrosis is made early in life. Anemia and hepatosplenomegaly in an infant lead to hospitalization at which time routine roentgenograms provide the diagnosis. Roentgenograms taken of the fetus in the ninth month of pregnancy can also reveal the diagnosis. In two of our patients, retrospective reading of fetal roentgenograms showed the characteristic dense bones. Golbus" believes that fetal roentgenograms taken at the 20th week or earlier of pregnancy are not diagnostic, thus not allowing early abortion.

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The cranial neuropathies are due to bony encroachment of the foramina of the skull. The optic nerve is the most commonly affected cranial nerve, with the facial nerve second.' This is similarly seen in our patients, with four having optic nerve atrophy and three having facial nerve dysfunction. Other authors have reported other cranial nerves and even cervical plexus involvernent>» and one of our patients had a left hypoglossal nerve involvement. None of them had 3rd, 4th, 5th, 6th, 9th, 10th, or 11th cranial nerve or cervical plexus involvement. Facial nerve paralysis is common in malignant osteopetrosis, comprising 100/ () in Johnson's review! and was present in three of our six patients. Hamersma .'l found that these patients have recurrent episodes of facial nerve paralysis, which improve, but with each attack progress to residual or persistent total paralysis. Two of our patients had bilateral facial nerve dysfunctions, with one side paralytic and the other paretic. Also, the onset of the facial nerve dysfunction was not simultancous in either patient, supporting Harnersrna's concepts. 7

The pathophysiology of the facial nerve paralysis involves two mechanisms. One is the narrowing of the facial nerve canal all along its course, not just at the mastoid port ion.i!" Another possible cause of facial nerve dysfunction is dehiscence of the facial nerve above the oval window area with the facial nerve being compressed by bony overgrowth from the epitympanum into the immobile stapes.!' Hearing loss is common. lohnson ' reported a 22"" incidence. Four of our patients had normal sensorineural level and a 30- to 50-dB conductive hearing loss. One infant tested at 1 to 2 months of age had grossly normal hearing to behavioral hearing tests, but this type of testing on an infant under 3 months of age can only screen for severe hearing impairment. Accurate evaluation of hear-

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ing loss of mild to moderate degree cannot be ascertained until the age of 6 months according to Marion Downs in a conversation on July 10, 1977. The conductive hearing loss is commonly attributed to immobility of the malleusincus from epitympanic encroachment; obliteration of round and oval windows; narrow tympanic cavity; ossifications of the malleolar and incudal ligaments; fixation of stapes to narrow oval windows; and bony replacement of the malleus, incus, and stapes. 9 ,11. n Otitis media may be a frequently overlooked cause of conductive hearing loss. The temporal bone examinations of malignant osteopetrosis of Suga" and Myers" each showed inflammed middle ear disease. One of our patients had a large conductive hearing loss with an intact but decreased mobile eardrum. Bilateral myringotomies and polyethylene tubes were performed, and the patient had normal hearing after the operation. Of our six patients, three had otitis media. One had serous otitis media with thick glue-like fluid. One had at least three episodes of bacterial otitis media by 18 months of age, and another had bilateral otitis media just before her death at 3 months of age. This may be related to narrowing of the bony portion of the eustachian tube or to the high incidence of rhinosinusitis. Sensorineural hearing loss is uncommon in patients with malignant form of osteopetrosis. This is maybe due to death before its development. The cause of the sensorineural hearing loss appears to be encroachment of the internal auditory canal. Suga " found in an 8-year-old patient with malignant osteopetrosis that the cochlea was normal and the internal auditory canal was slightly narrowed with a normal-appearing eighth nerve. Mvers"likewise examined a 2 year old with malignant osteopetrosis and found normal membranous labyrinth and eighth

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nerve. In the benign form of osteopetrosis, Harnersma? did not see sensorineural loss until the patients were in their 20s. Nasal problems have not been mentioned by previous authors as a common problem. All six of our patients have chronic nasal congestion with chronic rhinorrhea in two. This symptom was present at the time of initial diagnosis in five patients. All six patients were mouth breathers. Smaller than normal anterior nares were seen in five. Smaller than normal or minimally developed nasal bones were seen in five patients. One patient had surgical repair of the stenotic nasal nares to remove bony prominence in the nostrils and had good improvement in his breathing. One patient had right heart failure secondary to a combination of anemia and upper respiratory obstruction. In our patients, after the age of 1 to 1 1/ 2 years, the upper airway obstruction seems to improve. Facial changes are seen in osteopetrotic patients. Dyson!' described the facial changes with broad facies, snub nose, ocular hypertelorism, and frontal bone bossing. With concomitant enlargement of the mandible, maxilla, and frontal bones, osteopetrotic patients can have a leonine appearance. One of our patients had frontal bossing, proptosis, and ocular hypertelorism. A high-arched palate in these patients has not been described in the literature. In all six of our patients, high-arched palate was noted. There was no evidence of cleft lip or palate, submucous cleft, or congenitally short palate. The dental changes of osteopetrosis are well described in the literature by Dyson!' and Dick. 15 They include aberrant tooth development with delayed eruption, poorly calcified teeth with enamel hypoplasia, increased tendency toward caries, and malformed roots and crowns.

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Osteomyelitis of the mandible and maxilla is more frequent in the osteopetrotic patients. The bone infection is secondary to carious exposure to the dental pulp.14.1 \ Sofferman 16 described a case of osteomyelitis of the maxilla from carious teeth, leading to a maxillectomy. In our patients, three had carious teeth, two had delayed eruption, and two had prominent alveolar ridges. None of our patients had osteomyelitis. Mandibular hypoplasia was seen in three of our patients. The diagnosis was made by roentgenograms only. These findings have not been described before. Dick!' described excess development of the mandible with class 3 malocclusion. Suga"' also described excess growth of the mandible and maxilla. Patients with malignant osteopetrosis are prone to infections; in fact, the usual cause of death is either infection or anernia.! Two of our patients had severe infections. One had three episodes of otitis media, two episodes of ethmoiditis, and one episode of bronchopneumonia. The other patient died of infectious processes, with pseudomonas sepsis, bronchopneumonia, otitis media, purulent rhinitis, bacterial laryngitis and esophagitis, and pulmonary abscesses. White blood cell function tests on five of our patients were all abnormal; most severely abnormal were the children with bacterial infections. All five patients had evidence of a decrease in the bacteriocidal killing power of the granulocytes and the bacteriocidal killing power of the monocyte-macrophages. Decreases in granulocyte and monocyte-macrophage chemostaxis were seen in some of our patients too. There is no treatment for the primary process of osteopetrosis. Selective treatments for secondary problems have been of some success. The use of corticosteroids (prednisone 2 mg/kg/day) seems to

have increased the red marrow activity and lessened the degree of myelophthistic, normocytic anemia and splenomegaly. Facial nerve decompressions 7 10 and optic nerve decompressions" have been tried with some success. Shunts can be placed for hydrocephalus. Careful and frequent check-ups along with awareness may lessen some of the infectious and dental problems.

SUMMARY Malignant osteopetrosis is the autosomal, recessive form of osteopetrosis (Albers-Schonberg disease, marble bone disease). It commonly is seen with myelophthistic anemia, hepatosplenomegaly, and dense bones on roentgenogram. The head and neck manifestations of this disease should be well known to all physicians who may be called on to treat these patients. Optic nerve atrophy with blindness is the most common cranial neuropathy. The blindness is usually bilateral, and the age of onset is early. Four of our six patients had bilateral optic nerve atrophy with blindness, with the blindness diagnosed at 2 to 8 months of age. Facial nerve paresis/paralysis is the second most common cranial neuropathy. Three of six patients had facial nerve dysfunctions. One had a unilateral facial nerve paralysis with good tearing. Two others had bilateral facial nerve dysfunctions. Each of these patients had complete paralysis on one side with paresis on the other. Good tearing was seen in all patients with facial nerve paralysis. No sensorineural hearing loss was noted. Conductive hearing losses of 30 to 50 dB were noted in four patients. The tympanic membranes were intact but with decreased mobility in all patients. Impedance tympanograms showed I\1l bilaterally in four patients and T\"

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bilaterally in one patient. No exploratory tympanotomy was performed .• Three of the six patients had onus media. One had thick mucoid serous otitis medial. Two others had multiple episodes of bacterial otitis media. . Chronic nasal congestion was seen in all six patients. Five patients had smaller than normal anterior nasal nares and minimally developed nasal bones. One patient had frontal bossing, proptosis, and ocular hypertelorism. The other five had normal facial development. Three patients had carious teeth. Two patients had delayed dental eruption. Two patients had prominent alveolar ridges. No osteomyelitis was noted in any patient. High-arched palate was seen in all six patients. Hydrocephalus was noted in five of six patients. Severe bacterial infections were seen in two patients. One had three episodes of bacterial otitis media, two episodes of ethmoiditis, and one episode of bronchopneumonia. The other patient died at age 3 months of infections, including bacterial otitis media, rhinitis, and laryngitis.

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2. Karshner R: Osteopetrosis. Am 1 Roetngeno/16:405, 1926. 3. Johnson C, Lavy N, Lord T, et al: Osteopetrosis. Medicine 47:149-167,1968. 4. Schuknecht H: Osteopetrosis, in Pathology of the Ear. Cambridge, Mass, Harvard University Press, 1974, pp 380-383. 5. Schinz H: Erbtypen und formen bei Marmorknochenerkrankung (Morbus AlbersSchnonberg). Dir Erbarzt 12:133, 1944. 6. Golbus M: Failure to diagnose osteopetrosis in utero. l.enc»! 7997:1246, 1976. 7. Hamersma H: Total decompression of facial nerve in osteopetrosis (marble-bone disease; Morbus Albers-Schonberg). ORL 36:2132, 1973. 8. Klintworth GK: The neurologic manifestations of osteopetrosis (Albers-Schonberg's disease). Neurology 13:512-519, 1963. 9. Harnersrna H: Osteopetrosis (marble bone disease) of temporal bone. Laryngoscope 80: 1518-1539,1970. 10. Yarington C, Sprinkle PM: Facial nerve paralysis. lAMA 202: 213, 1967. 11. Suga F, Lindsay J: Temporal bone histopathology of osteopetrosis. Ann Otol Rhinol Laryngol 85:15-24, 1976. 12. Myers E, Stool S: The temporal bone in osteopetrosis. Arch Otolaryngol 89:460-469, 1969. 13. Jones M, Mulcahy N: Osteopathia striata, osteopetrosis, and impaired hearing. Arch Orolaryngol 87:116-118, 1968. 14. Dyson D: Osteomyelitis of jaws in AlbersSchonberg disease. Br 1 Oral Surg 7:178-187, 1970.

Key Words: Osteopetrosis, malignant; marble bone disease; Albers-Schonberg disease; facial nerve paralysis; optic nerve atrophy; anemia, myelophthisic, normocytic; hepatosplenomegaly.

15. Dick H, Simpson W: Dental changes in osteopetrosis. Oral Surg 34:408-416, 1972.

REFERENCES

16. So!ferman R, Smith R, English G, et al: Albers-Schonberg disease (osteopetrosis)-A case with osteomyelitis of the maxilla. Laryngoscope 81 :36-46, 1971.

1. Albers-Schonberg H: Roentgenbilder oincr sr-ltcnen Knochenerkrankung. Munch Mecl Wochenschr 51:365, 1904.

17. Ellis PP, Jackson WE: Osteopetrosis. A clinical study of optic nerve-involvement. Am 1 Ophthalmol 53:943-958, 1962.