Craniometaphyseal dysplasia

Craniometaphyseal dysplasia

oral medicine Editor: JAMES Chairman Department University Lexington, W. LITTLE, D.M.D., and Professor of Oral Diagnosis of Kentucky Kentucky 40506...

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oral medicine Editor: JAMES Chairman Department University Lexington,



and Professor of Oral Diagnosis of Kentucky Kentucky 40506


and Oral


Craniometaphyseal Report



of a case





C~a,nior~iet:~physc::~l dysplasia, often referred to as Pyle’s disease, is :I hereditary disease involving the expansion of the metaphyses of the long bones, giving the appcaranw of an Erlenmcyrr flask. ‘I’hrre is diffuse hyprrostosis of the entire cranial vault, along with absrnw or decreased development of the paranasal sinuses. In the case presented here the mouth demonstrated an abnormally wide maxilla with a slight palatal vault. &netically, this appeared to be a dominant form of dysplasia.


raniornetaphyscal dysplasia is a hcrcditary disease that has been grouped with other designations (lcontiasis ossea, osteopetrosis, metaphyseal dysplasia, familial metaphyseal dysplasia, and Pyle’s disease) which, in total, have been referred to as Pyle’s disease and/or craniometaphyseal dysplasia of Pyle. Historically, this has led to general confusion concerning these disease entities and their relationships to one another. Pyle, in 1931, first described a case in which the patient demonstrated a large head, genu valgum, limitation of extension of the long bones, and symmetrical expansion of the metaphpses.’ Bakwin and Krida,’ in 1937, considered this disorder a fanlilial generalized bone dystrophy, terming it familicrl metn~ph~ysenl *Formerly, Chief Dental Resident. **Professor of Pediatric Dentistry and Director, Division of Dentistry. ***Associate Professor of Otolaryngology and Director, Department of Otolaryngology. ****Professor of Pediatric Radiology, University of Pennsylvania Medical School, Departmcnt of Radiology, The Children’s Hospital of Philadelphia. 464

Volume Number

Fig. cross-bite

40 1

1. Intraoral relationship


view of mouth of patient and largeness of maxilla.







dysplka. There was a hiatus in the American literature until 1954, when Jackson and associates3 reported five new cases with accompanying craniofacial changes and characterized this “new” syndrome as craniometaphyseal dysplasia.. They state : “This disorder (i.e., Pyle’s disease) appears to consist essentially of a symmetrical expansion of the metaphyses of the long bones.” This phenomenon is a failure in the remodeling process (that is, constriction), which results in the Erlenmeyer flask appearance. Jackson and co-authors point out that the characteristics seen in Pyle’s patient, when combined with the skull changes of leontiasis ossea, create a new entity of craniometaphyseal dysplasia, representing a link between metaphyseal dysplasia, leontiasis ossea, and osteopetrosis.3 In 1956 Mori and Holtl concentrated on the cranial aspects of familial metaphyseal dysplasia, still utilizing Bakwin and Krida’s terminology. In 1967 Ross and ARman reviewed the literature and presented several cases of their own. They cited previous literature as it related to Pyle’s work and summarized the clinical and radiographic findings : Clinical:

1. Genu valgum is commonly present and is frequently very severe. 2. There is often limitation of joint motion, especially extension of the elbows. 3. Patients are usually tall as a result of elongated femurs and tibias. 4. Hypertelorism is common. 5. There is a bony prominence of the glabella. 6. Patients have nasal obstruction and thickening of the facial bones, with prognathism. 7. There are varying degrees of deafness and visual loss due to bony impingement on the cranial foramina. Radiographic: 1. Widening of the metaphyses, most severe in the distal femur. 2. Errors in tubulation in the metacarpals and phalanges.

Fig. 3. I’osteroxntrrior ructnpllyw:ll ends of both

view tibiae

of both tibias and fibulas. and the proximal frmurs.


the lack

3. IWfuw Ii>-porostosis of the entire (*ranial vault. 1. Ahscnt or tlcc~reased dcvelopmcnt of the paranasal 5. Prwlollgcd retention of deciduous twtil ilIlt pclwGHlellt

of tubulntion

at the

sinuses. dCl~,vCd




6. ICumcrous dental fillings and/or other evidence of tlcntal caries” ( Fig. 1). Thus, the lumping of many of these similar tubular boric disorders into one entity cwntinucd until 1969, when ( lorlin and his ~OllCil~llCS’~ attempted to cMineate the various diseases, their interrelationships, illld their distinctions. They gathered the mass of information into a group to he termecl crtr1Gof~b1~7~~) bo?le d?~sp7nsias, arriving at this tcrminolog\on the basis that “ . these disorders morphologitall~shaw various dcgrccs of cranial tlysplasia ant1 tubule1 modeling defects.” (:orlin’s group rrc~lassifiecl the disorders awording to clinical. radiographic, and genetic information. Pyle’s discasc is limited to those entities eharacterizctl ty gcnu valgum and an l~~rlenmcyr flask appearan~c~ of the long hones with distal flaring of the lYl&CiIYp;LlS and proximal flaring of the phalanges” (Figs. 2 and 3). Cranial involrcment is atxwirt or at 1riISt minimal. T)ental malocclusion has rarely 1-xw~ not,ctl. (‘r~rlliolrletaph?-Real cl;vsplasi;l has, in turn, been divided into a dominant ant1 a rcwssiw form. Both forms present a t)roa(l root, of the now, ocular hypertelorism, nasal obstruction, soiiiitl-c~ontliictioii loss. frontal ant1 occipital hyperostosis, and metaphywal flare.” The mqjor tlifferencc

Volume Number

40 4



3. Note


of metacarpals





is in the severity of the above findings, with the recessive type exhibiting more complete cranial obliteration of the paranasal sinuses, greater thickening of the skull, and more cranial nerve involvement (for example, hearing loss, optic problems, and facial palsy). Dental manifestations are not generally discussed. The genetic hypotheses presented are that Pyle’s disease is autosomal recessive and that the dominant form of craniometaphyseal dysplasia is a dominant trait and the recessive variety is an autosomal recessive. Gorlin and Cohen7 reported a new syndrome, frontometaphyseal dysplasia, which is similar to craniometaphyseal dysplasia and often confused with it. CASE


A Caucasian girl, 7 years 5 months of age, was seen at the Otolaryngology Clinic with a past medical history of left facial paralysis originating at the age of 14 months. At that time, a left facial nerve decompression was successfully performed. There was accompanying auditory involvement. Films taken at 14 months showed hyperostosis of the skull and temporal bones and flaring of t,he long bones, all consistent with craniometaphyseal dysplasia (Figs. 4 and 5).s The patient s--as referred to the Dental Clinic at the Children’s Hospital of Philadelphia by one of us (S. E. S.) for evaluation of her “delayed dentition.” A complete dental examination encompassing intraoral periapical radiographs, a cephalometric skull film, a wrist film, and dental impressions was performed (Fig. 6). The data revealed a complete deciduous dentition in both maxilla and mandible, Baume Type I, with a mesial step. All permanent first molars showed alveolar emergence, although only two had fully pierced the gingivae. The roots of the mandibular deciduous central incisors were approximately one-half resorbed. All permanent teeth, which n-ere unerupted, showed varying degrees of formation and calcifiestion. At first glance, the child appeared to have a unilateral cross-bite on the left side, with

Oral October,


4. Facial


of patient

at 14 months

of age showing



Surg. 1975


the maxillary cuspid and first and second deciduous molars placed buccal to the mandibular dentition. Further examination shoTvet a midline deviation with a shift to the right; the cross-bite was indeed bilateral in nature. The buccal plate had an expanded appearance bilaterally. The cephalometric film showed cortical thickening in the occipital region along with complete obliteration of the maxillary sinus. The mandible, while not as dense in appearance as the maxilla, looked grainy and lacked the typical pattern of trxbeculation. Wrist films revealed that skeletal development was average for the patient’s sex and age. Analysis of the study models showed an abnormally wide maxilla, with a slight, palatal vault. The distance from the mesiobuccal cusp of the maxillary second deciduous molar to the same cusp on the opposite side measured 52 mm. The corresponding measurement on the mandibular arch was 41 mm. Developmentally, the patient was in the 5 per cent of the population whose mandibular incisors erupt after the age of 7.8 years. o Since the patient’s skeletal growth was within normal limits, the assumption was made that the delay \vas due to the abnormally dense bone through which the teeth had to erupt. Stool and Caruso found, in performing a surgical procedure on the patient’s father (who also had the disease), that the bone was extremely dense and hard. Genetically, this case is compatible with Gorlin’s dominant type of eraniometaphyseal dysplasia. The father, as reported, had a large head with hypertelorism, a flat nasal bridge, prognathism, characteristic long-bone changes, and a dental malocclusion. Density of sinus obliteration in both father and daughter was consistent with the dominant form, as were the facial nerve involvement and hearing loss. The patient’s brother was also examined at our clinic and was found to exhibit a normal dentoskeletal pattern with none of the disease’s traits. One year after the initial examination this patient, now 8 years 5 months old, was reevaluated. At that. time, the deciduous mandibular central incisors had exfoliated and the permanent RU~CCSSO~~ were in place. The maxillary deciduous central incisors showed Class

Volume Number

Fig. and base sinuses.

Fig. bones.


40 4

5. Lateral of the

6. Intraoral

view skull.

of skull at 6% years. Note markedly There is practically no pneumatization


I mobility. This appears top 5 per cent extreme. Our patient demonstrated a high rate of caries.


consistent with the Other case reports no lesions following


thickened and of maxillary





dense and



calvarium sphenoid


previous data and still places the patient in the have related a high incidence of dental caries. her last examination, although her father had


It would appear that the width of the maxilla in its relationship to the mandible is consistent with the disorder and that the accompanying hyperostosis

Oral October,

Surg. 1975


t3. 3. 4. 5.

John A.: Congenital Facial Anomalies, Springfield, Ill., 1969, Charles C Thomas Publisher, pp. 127-129. Rakwin, l-i., and Krida, A.: Familial Metnphyseal Dysplasia, Am. J. Dis. Child. 53: 1521, 1937. Jackson, TV. P., and others: Metaphyseal Dysplasia, Arch. Int. Med. 94: 781, 1954. Mori, I’. A., and Holt, J. F.: Cranial Manifestations of Familial Metaphyseal Dysplasia, Radiology 66: 335, 1956. ROSS, M. TV., and Altman, D. H.: Familial Metaphyseal Dysplasia, Clin. Pediatr. 6: 143, 1 MS.

6. Gorlin, K. J., and others: Genetic Craniotubular Bone Dysplasias and Hyperostosis, Birth Defects 5: 79-95. Anril. 1969. 7. Gorlin, B. J., and bohen, M. M., Jr. : Frontometaphyseal Dysplasia-A New Syndrome, Am. J. Dis. Child. 118: 487-493, 1969. 8. Stool, Sylvan E., and Caruso, Vincent G.: Cranial Metaphyseal Dysplasia, Arch. Otolaryngol. 97: 410.412, 1973. 9. Moyers, Robert E.: Handbook of Orthodontics, Chicago, 1972, Year Book Medical Publishers, pp. 182-185. Xepint rcqucsts to: Dr. Manuel M. Album Division of Dentistry Children’s Hospital of Philadelphia Philadelpl~i:~, Pa. 19146