British Journal of Oral Surgery 17 (1979-80), 232-243

C L E I D O - C R A N I A L D Y S O S T O S I S - A C A S E R E P O R T

RUSSELL HOPKINS, B.D.S., F.D.S.R.C.S., M.R.C.S., L.R.C.P.

Department of Oral and Maxillo-faeial Surgery, Dental Hospital, Heath, Cardiff CF4 4XY, Wales

Summary. A case of cleido-cranial dysostosis is presented. The considerable difficulties involved in the removal of multiple unerupted teeth are described together with the treatment of the prosthetic problem that resulted later.

Introduct ion

More than 500 examples of this condition have been described since the syndrome was first reported in 1871 (Goodman & Gorlin, i977). The syndrome is principally an autosomal dominant inheritence though Goodman et al. (1975) reported an autosomal recessive variant. The following characteristics are usually seen.

The stature

This is usually short, but the neck appears relatively longer and the shoulders narrow and markedly drooped.

The skeleton

The shoulder droop results from the clavicles which may be unilaterally (commoner on the right side) or bilaterally totally or partially aplastic. Partial aplasia is commoner at the acromial ends. There is a variation in size and origin and insertion of the muscles related to the clavicles. Congenital dislocation of the hip, delayed closure of the pubic symphysis, pelvic dysplasia, open fontanelles and skull sutures and numerous wormian bones are also seen.

The cranium

The skull is brachycephalic with pronounced frontal and parietal bossing so that the face appears to be small. The skull may exhibit a groove extending from the nasion to the sagittal suture.

The face The nose is broad-based and its bridge depressed. The eyes may exhibit a mild

exophthalmos and the skeletal orbital height is usually greater than its width.

The mouth

The palate, usually high-arched, may present with a submucous defect or a complete palatal cleft of hard and soft tissues. The maxilla may be underdeveloped so that pseudo-prognathism results as a result of normal mandibular growth.

The radiographic findings of dental abnormality first reported by Hesse (1925) are of a delayed or complete failure of the eruption of the permanent teeth. The deciduous teeth and commonly the first molars erupt normally as they have little or no bony

(Received 3 December 1978; accepted 7 March 1979) 232

C L E I D O - C R A N I A L D Y S O S T O S I S 233

covering at birth (Hitchin & Fairley, 1974). Cyst formation around the impacted, inverted or displaced teeth is not unusual nor is their gemination and dilaceration. A feature of the syndrome is the number of supernumerary teeth, many of the crowns of which resemble somewhat flattened premolars (Gorlin et al., 1976). The unerupted teeth may have bent or twisted roots (Rushton, 1937), and their apices may be narrowed to a spike. Both the roots and crowns may have irregular depressions where there was contact with other impacted teeth. Enamel hypoplasia is often associated with the coronal depressions.

Hitchin and Fairley (1974) believed that their reported cases were further evidence that non-eruption of the permanent teeth was a result of a disturbance of bone resorption. Pusey (1943) recognised that the failure of eruption of the permanent teeth created significant problems of dental care in the adult, often involving the provision of dentures supported by the alveolus containing unerupted teeth. However, these may have been previously removed and the under-developed maxilla already a cause of prosthetic difficulty.

Case report

The patient, a 24-year-old female, was referred by her general dental practitioner in August 1974 because of unerupted maxillary teeth and potential prosthetic difficulties. Clinical examination showed a healthy non-anaemic patient, 5 feet in height, with a relatively long neck. An easily palpable groove in the mid-line of the frontal bone was covered by the patient's hair style. Her nose was broad-based with a depressed bridge.

Intra-orally, the patient, wore partial upper and lower dentures, had one standing lower right pre-molar and two molar teeth on each side of the upper jaw. A fluctuant swelling was present on the labial aspect of the anterior maxilla; the remaining mucous membranes of the mouth were normal in appearance, though the edentulous alveolus was enlarged and rounded in both jaws.

Fro. la.

234 BRITISH JOURNAL OF ORAL SURGERY

FIG. lb.

FIG. lC. FIG. 1 d.

FIGS. la, b, c, d. Pre-operative radiographs demonstrate the multiple impacted and displaced teeth. Radiolucent cystic spaces associated with the teeth are seen in all areas. Teeth are seen to constitute

the bulk of the alveoli.

C L E I D O - C R A N I A L D Y S O S T O S I S 235

Radiographic examination of the jaws demonstrated the presence of multiple unerupted, impacted and displaced teeth, including several supernumeraries. Cystic areas associated with the teeth were noted in all four quadrants of the jaws. The roots of the teeth had closed apices (Figs. la, b, c, d). Radiographic examination of the chest showed bilateral aplasia of the acromial ends of the clavicle and hypoplasia of the sternal component on the right (Fig. 2).

Subsequently bilateral aplasia of the zygomatic processes of the temporal bone was noted.

There was no history of other members of her family being similarly affected.

Treatment plan The multiplicity and abnormal positioning of the teeth, the cystic degeneration of

several of the dental follicles and the closed root apices made it unlikely that a reason- able number of teeth would erupt into a normal position i f the teeth were uncovered and the supernumeraries removed. Therefore, it was decided to remove all of the unerupted teeth at one operation. This was not expected to present any particular problem.

Under general anaesthesia, mucoperiosteal flaps were raised in both jaws with considerable difficulty because of the attachment of the periosteum to the underlying dental follicles. The surgical removal of the 38 unerupted teeth (Fig. 3) was also difficult as a result of interlocking of the majority of the teeth which prevented the removal of separate teeth until their neighbours had also been uncovered of bone and mobilised. Troublesome haemorrhage persisted, particularly in the upper jaw, necessitating the transfusion of two units of blood in addition to intravenous fluid. As expected, when the surgical removal of the teeth and associated soft tissues was completed the alveolus had disappeared and only basal bone remained. In the maxilla

FIG. 2. The chest radiograph demonstrates bilateral aplasia of the clavicles at their acromial ends and hypoplasia of the sternal end of the right clavicle.

236 BRITISH JOURNAL OF ORAL SURGERY

FIG. 3. The 38 unerupted teeth include several supernumeraries with premolarlike crowns. Gemination, crown and root abnormality are also present.

several a reas o f the nasa l and ant ra l mucosa were exposed. Unexpec ted ly , a f racture o f the b o d y o f the left mand ib le had occurred. This was r educed and fixed by an uppe r bo rde r wire and the wir ing o f the exist ing par t i a l denture in to pos i t ion af ter it had been l ined with sof tened gut ta percha. The jaws were no t immobi l i sed in case a i rway p rob lems resul ted f rom pos t -opera t ive oedema However , eyelet wires were p laced on all five s tanding tee th so tha t the j aws could be subsequent ly immobi l i sed . (Figs. 4a, b).

Pos t -opera t ive ly , a p a r t f rom cons iderab le facial oedema and j aw d iscomfor t the pa t i en t ' s cond i t ion was sa t is factory and her recovery slow but cont inuous . The lower

FIG. 4a (left) demonstrates the partial aplasia of the zygomatic arches, small frontal sinuses, frontal and parietal bossing, the radiolucency of the frontal groove and wiring used to control the fractured

mandible. Fro. 4b (right). The postero-anterior film demonstrates the circum-mandibular and upper border wires. The inter-maxillary wire present was not in use and was removed after these radiographs

were available.

CLEIDO-CRANIAL DYSOSTOSIS 237

denture was re ta ined in pos i t ion for four weeks wi thout j a w i rnmobi l i sa t ion and bone un ion had occurred when the denture spl int was removed. F o r social reasons , at the earl iest oppor tun i ty , t empora ry upper and lower par t ia l dentures were inserted, using the s tanding teeth in each j aw for retent ion. I t was not cons idered l ikely tha t the lower

FIG. 5a (top). The appearance of the lower jaw 29 months after the first operation. Alveolar loss and superficial muscle insertion is clearly seen.

FIG. 5b (bottom). Orthopantomograph of same period showing mandibular atrophy and anterior maxillary bone loss. The aplastic zygomatic arches are seen in the upper third of the radiograph.

238 BRITISH JOURNAL OF ORAL SURGERY

pre-molar would withstand the stresses of mastication for long and the patient was advised to return to her general dental practitioner when the dentures became loose.

It was surprising, therefore, to find the dentures still being worn in January 1977 when the patient again presented with increasing prosthetic difficulties. Clinical examination revealed that the lower pre-molar was now mobile and radiographic

FIG. 6a (top) demonstrates the collapsed, mobile anterior maxilla. FIG. 6b (bottom). The lateral cephalometric view shows the tongue tip outlined by contrast media

pointing to the alveolar loss in the upper jaw.

C L E I D O - C R A N I A L DYSOSTOSIS 239

FIG. 7a (top). The anterior maxilla six months after bone grafting. The vertical gain and sulcal scar are clearly seen.

FIG. 7b (bottom). The lateral radiograph of the area shows the consolidated bone graft.

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FIG. 8. The reconstituted lower labial sulcus. The alveolus is covered by mucous membrane and the skin graft lies anteriorly.

FIG. 9a. The post-operative appearance after the second operation.

CLEIDO-CRANIAL DYSOSTOSIS 241

Fro. 9b.

FIG. 9C.

FIGS. 9b, c (bottom). The final lower denture. The extended labial and lingual flanges and the con- siderable area of the denture base achieved by surgery are shown.

examination showed that its extraction was indicated. Though there was considerable loss of alveolar bone in the lower jaw a bone graft was not thought to be immediately required; pre-prosthetic surgery in the form of a labial sulcoplasty combined with bilateral mylohyoid ridge resection was considered suitable (Figs. 5a, b). In the upper jaw, considerable contraction of the anterior maxillary soft tissues had occurred and they remained mobile and unsupported. It was considered that i f the upper molars were lost considerable prosthetic difficulty would result and therefore bone grafting of the defect was indicated (Figs. 6a, b).

242 B R I T I S H J O U R N A L OF O R A L S U R G E R Y

The patient was re-admitted to hospital where, under general anaesthesia, cancellous bone chips were taken from the hip through a small window cut in the iliac crest. Through an incision made in the labial soft tissues, the soft tissues of the anterior maxilla were raised so that the alveolar space could be created by the opening out- wards of the scarred tissue from its undersurface. The bone chips were placed within the defect created and retained by suturing the maxillary soft tissues back into position which were, in turn, supported by an acrylic plate attached to the standing teeth (Figs. 7a, b).

In the lower jaw deepening of the lingual and labio-buccal sulci was carried out in the manner described by Hopkins and Stafford (1974), that is by bilateral mylohyoid ridge resection, submucous buccinator reflection, mobilisation of the labial mucous membrane with its transference onto the labial surface of the mandible following reflection of the mentalis muscle and skin grafting of the resulting denuded surfaee of the lip (Fig. 8).

The patient has made an uneventful recovery from this surgery and wears her upper and lower dentures satisfactorily, retaining a pleasing facial appearance. The lower denture base is shaped so as to gain retention from the deepened sulci and the labial skin graft (Fig. 9a).

Discussion

This patient presents many of the classical features of the syndrome but she is unusual because of the number of unerupted teeth and the bilateral aplasia of the zygomatic processes of the temporal bone. This was not noted before the first opera- tion and does not result in any obvious alteration of the facial appearance.

Because of parental sensitivity, it is not possible to guarantee the family history. Clinicians may be unaware of the guilt complex assumed by parents of some of these patients. This patient, though adult, had not been informed about the nature of her condition and there was parental pressure to maintain the situation. However, as one third of these patients are new mutations (Goodman & Gorlin, 1977) it is reason- able to accept that there was no previous familial incidence.

It was expected that the removal of the unerupted teeth would be similar to 'picking peas from a pod'. Surgery proved to be tedious and time consuming with persisting blood loss requiring transfusion, which is unusual with impacted teeth. Mandibular fracture must be a hazard when the impacted teeth constitute the bulk of jaw and the forces involved in tooth removal require careful control and moderation. The long- term prosthetic requirements must be considered when unerupted teeth are to be removed rather than uncovered. Immediate bone grafting should certainly be con- sidered to repair the alveolar loss. Modern pre-prosthetic surgery should, however, successfully rehabilitate the patient.

Hitchin and Fairley (1974), recommend that the children of affected parents should be reviewed at an early age so that the deciduous teeth and overlying bone could be removed surgically to permit eruption of the permanent teeth. Supernumerary teeth should also be removed before root formation is anywhere near complete not only to facilitate their removal but also to encourage the eruption of the remaining teeth and prevent dentigerous cyst formation.

Acknowledgements

My thanks are due to the staff of the Audio-Visual Aids of the Dental Hospital, Cardiff and Mrs Valerie Beech for her secretarial support.

C L E I D O - C R A N I A L DYSOSTOSIS 243

References

Goodman, R. M. & Gorlin, R. J. (1977). The Face in Genetic Disorder, 2nd Ed. St. Louis: Mosby. Goodman, R. M., Radmor, R., Zaritsky, A. & Becker, S. A. (1975). Evidence for an autosomal

recessive form of cleido-cranial dysostosis. Clinical Genetics, 8, 20. Gorlin, R. J., Pinborg, J. J. & Cohen, M. M. (1976). Syndromes of the Head and Neck, 2nd Ed.

London: McGraw Hill. Hesse, G. (1925). Dysostosis cleido-cranialis unter besonderer beriicksichtingung. Vierteljahrsschrift

fiir Zahnheilkunde, 41, 162. Hitchin, A. D. & Fairley, J. M. (1974). The dental management of cleido-cranial dysostosis. Br#ish

Journal of Oral Surgery, 12, 46. Pusey, R. F. (1943). A case of cleido-cranial dysostosis showing failure of eruption of the teeth.

British Dental Journal, 75, 11. Rushton, M. A. (1937). The failure of eruption in cleido-cranial dysostosis. British Dental Journal,

63, 641.