Mandibulofacial dysostosis (Treacher-Collins syndrome)

Oral medicine

Mandibulofacial dysostosis (Treacher-Collins syndrome) Patrick S. Metro, D.D.S., Cletqeland,

Ohio

M

andibulofacial dysostosis, also called Treacher-Collins syndrome, is a disorder of particular interest to the oral surgeon and yet it has received little attention in the dental literature. The syndrome consists of a group of related congenital defects of the face and head. The purpose of this article is to provide a brief historical background and to describe the clinical and roentgenographic anomalies associated with the syndrome. A newly discovered case will also be presented. HISTORICAL

REVIEW

First mention of any of the congenital defects associated with the syndrome was made in 1889 when G. A. Berry,l a British ophthalmologist, reported a case of congenital deformity of the lower eyelid. He called this deformity coloboma and stated that the patient’s mother had identical symmetrical defects in both lower lids. In 1900 E. Treacher Collins,3 also a British ophthalmologist, presented two cases of symmetrical notching of the lower lids associated with faulty development of the malar bones. The syndrome since has carried his name. In 1943 three similar cases were presented in the British Jownd of Ophthdneology by Mann and Kilnerl” and by Johnstone, who added micrognathia to the eyelid anomalies. Mann and Kilncr’s patient also had a. cleft palate and ear deformities. In 1944 Franceschetti4 and Zwahlen added two more cases, Brie presenting t,he complete syndrome and another an atypical form. They believed that the defects were associated and a.pplied the term dystose mandibulo-faciale. They were able to collect a total of seven cases in the literature. In 1945 Leopold, Mahoney, and Prices reported the case of a grandfather, mother, and daughter who had the eyelid and malar anomalies. In 1949 Straith and LewisI described a family in which all five members revealed the entire syndrome. That same year Franceschetti and Klein5 reported three new cases in an article entitled “Mandibulofacial Dysostosis : A New Hereditary Syndrome.” Campbell,2 in 583

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1954, described two cases ol’ TIWIC~IV~‘-(‘ollins syntlronre. and prescntetl a sum;~rrtl clinical findings. In I.958 Pausek” mary of the classic roentgenographit added a new case as well as a tl(~srriptiorr of the rocutgenograpllic findings. In 1962 Stark and Saun(lers’2 ~)~sctntcd an excellent art,iclP in which they attempted to differentiate the congc>nital d(~t’ects according to c~rnhryologic tlcrivation. They concluded that the various facial defects could 1~.1 q0np~d into three categories: (I) the Trearhrr-Collins syntlromr; (2) the oral-malldihulau-au~i(~l~lar triad; and (3) the first and second branchial arch s\-ndromc~s.!’ The (+ombinat,ion of deformities was tcrrncd ?Il,n,nd~l)zLlofucitr.lclyso:stosis. No universal terminology is in use at prpsent, but t hc term nlctntlibulof~~ciu1 dysostosis seems to be most, prevalent in the literature. Tbc terms 7’reachersyndrome arc usctl synonymo’usly by man) Collins syndrome and Prunceschetti’s authors, \vho believe that the former is an incomplctc t’orm of tlw latter, which represents the complete mandibulofacial syndrome. In their comprehensive review, Franccschctti and lil&” describe t,he various defects common to all cases of mandibulofacial dysostosis. Those cases in which patients do not present the complete syndrome could be termed incomplete, abortive, unilateral, or at,ypical. Signs associated with the syndrome at‘e as follows : (oblique slanting) with coloboma 1. Anti-Mongoloid palpebral fissures (notching) of each lid and a dcfiricnq- of the eyelashes on the medial two thirds. 2. Hypoplasia of the facial bones, especially thr> mnlar boric and the mandible. 3. Malformations of the external ear which may be accompanied by middle and internal ear deformities. 4. Macrostomia, a high arched palate (which may be cleft), and malposition and malocclusion of the treth. 5. Blind fistulas or pouches associated with fusion angles of the mouth and ears. 6. Atypical hair growth forming a. tongue-sha.ped process of the hairline extending toward the cheek. 7. Other anomalies, such as facial clefts or skeletal dcfccts. Cases of mandibulofacial dysostosis may be classified as follows: 1. Complete-manifesting all of t,he above signs. 2. Incomplete-having the same findings, though not quite as striking, with almost normal-appearing ears and impaired hearing. 3. Abortive forms-showing only one defect. 4. Unilateral forms-showing underdevelopment on one side, with skeletal deformities. 5. Atypical forms-with irregular findings. CASE REPORT G. Y., a 19.year-old white female patient, was admitted to the Gyneeologic Service of the Cincinnati General Hospital for treatment of a Bartholin cyst. I was asked to see the patient on consultation for evaluation of her malocclusion. Upon examination, I noted many

Mawiiibulofacial

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congenital anomalies, among which were anti-Mongoloid palpebral fissures, coloboma of the right upper and lower lids, loss of the eyelash on the medial two thirds of the lids, and hypertelorism (widely spaced eyes) (Fig. 1). I also observed accessory auricular tissue tags anterior to the left tragus (Fig. 2), narrowing and malformation of the left external auditory canal, incomplete fusion of the upper lip on its inner aspect (Fig. 3), small and underdeveloped malar bones and left mandible (Fig. l), a high arched palatal vault, abnormally positioned teeth, and gross malocclusion (Fig. 3). The hairline formed a tongue-shaped projection extending toward the cheeks (Fig. 2). There mas a scar on the left cheek which represented an incomplete fusion pouch that was repaired when the patient was a child. The nose also was congenitally deformed and gave the appearance of incomplete fusion at the midline (Fig. 1). A tentative diagnosis of Treacher-Collins syndrome was made pending a roentgenographic work-up, which revealed the following skeletal defects: hypoplasia and underdeveloped malar bones, hypoplasia anad hypogenesis of the left mandible, a super-

Fig. 2. Loss of depth of left

Fig. 8. Preauricular

mandibular

tissue tags.

body and ramus.

Fig.

9. Centric

odusion

reveals

only

txvo

teeth

in contact.

Fig.

4.

Fig. Pig.

4. Waters’ 5. Submental

view reveals undeveloped condylr, ramus, and body of mandible. vertex virlr reveals small hypoplastic2 zygomatir ar~*l~w.

5.

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Fig.

6. Posteroanterior

view reveals

discrepancy

of mandibular

dysostosis

587

ramus.

numerary cervical rib, and a median maxillary cleft of the palate. There was also an abnormal calcification of the falx cerebri in the skull, and the paranasal sinuses and mastoids appeared smaller than normal. The roentgenographin findings (Figs. 4 to 7) supported the diagnosis of mandibulofacial dysostosis ( Treachcr-Collins syndrome), and the patient was transferred to the Oral Surgery Service for further study and evaluation preparatory to surgical correction of the oral and facial deformities. The patient also was followed by the Otolaryngologic Service on consultation for complete evaluation of a hearing deficiency. Audiologic examinations revealed partial conduction loss of hearing in the left ear. Surgical

treatment

The patient was hospitalized on the Oral Surgery Service for correction of the intraoral and facial deformities, which consisted of malocclusion and loss of vertical dimension in the left maxillary and mandibular vestibules as well as loss of lateral fullness in the ramus and depth of the inferior portion of the body of the mandible from the symphysis to the angle of the mandible. The past medical history and physical examination and laboratory findings gave no contraindications to surgical intervention or anesthesia. The treatment consisted of two separate phases. The first procedure was limited to removal of the remaining maxillary teeth and the posterior mandibular teeth and correction of the left mandibular alveolar ridges and vestibules in order that the patient might retain a full maxillary and a partial mandibular denture. After an appropriate healing period, the prosthetic appliances were inserted and the occlusion was restored. The patient was then rehospitalized for correction of the left facial deformity. It was decided that a portion of her right sixth rib should be used for the onlay bone grafts to the left mandibular body and ramus. 9 member of the general surgical department removed a segment of the right

Pig. 7. Lateral

view reveals

disrrcl)an(*y

of rnandilmlar

hotly.

sixth rib on the anterolateral aspwt. Tllis wgmwt was c*hosen IKX~:~USC: its curvature corresponded closely to the curvature of t,hc left mantlillle from tllcl symphysis to the angle. A Risdon incision was made and t,hc pcriostwm was detached f ram the lateral aspect of the ramus and, in tunnel fashion, along the iufrrior border of the body of the mandible up to the symphysis. A small skin incision was matlc at, the symphysis. The segment of rib was then split lengthwise to produw two \I-itlcs, flat portions with an outer cortical and an inner medullary plate of bone. The first portion was divided and usetl in an onlay fashion to build out the lateral aspect of the r’amus. ‘1’11~second portion was used to correct the discrepancy in depth of the body of the mandible. This was rather difficwlt, as it was necessary to taper t,he graft since more dept,h was rryuirrd at the angle than at thfx symphysis. The graft was repeatedly contoured and inserted through thcx Kisdon incision until the proper facial contour was established. The body graft was sectored at, the symphysis through t,he skin incision with a 25 gauge wire ligature. Another ligature was used to secuw the posterior aspect of the prcauricular tissue tags were then cosgraft through the Risdon incision. The awwsory metically removed. Figs. 8 and 9 rrvwl the facial appearance approximately 18 months after the operation. Healing took place without complication. Muscular rnovcwwnt associated with mastication and facsial expression was not iulpaiw(l in any way.

DISCUSSION Stark and Saunders,12 in their excellent review of the embryology of the face, have classified the various facial deformities according to their embryologic derivation. The Treacher-Collins syndrome represents deformities of the maxillary process, which is responsible for development of the lower lids, palpebral fissures, malar and temporal bones, and the hairline above the ear. The firstbranchial syndrome represents deformities derived from the mandibular or first branchial arch and includes the tragus, the helical crus, the temporomandibular joint, and the mandibular condyle as well as the skin over the mandible. The first- and second-branchial-arch syndrome represents deformities restricted to

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Fig. 8. Photograph of patient 18 months after to body and ramus of left mandible.

Fig. 9. Photograph facial symmetry.

taken

18 months

surgical

postoperatively

prowdure.

showing

Note

incision

589

cont,our restored

site and

restored

the dorsal part of the first and second arches, which normally combine in this area to form the auricle, the ramus of the mandible, and the temporomandibular joint. Evidence of hereditary and familial occurrence is well documented in the literature. Some authors have demonstrated the syndrome in several generations of a family. Mann and Kilner,‘O in their review of the embryology, concluded

that the anomalies resulted from failluae of diffrrcnti;ltiorl 01 t hcc r~l:lsill;r t.> mesoderm. The visceral mesoderm forms a wedge of tissllcl whi(all is luccl1;1tli(ball>responsible for swinging the eyes around from a lateral lo a f(Jl’\Vitl’tl j)osition as well as for development of the maxillary alld nlaht~ l~onc~s. Its slqwrfivial extensions are responsible for formation of thrl lowrci* eychlitl, t Iic vestilnllv ot’ t ht. nose, and portions of the extclrnal ear. The visceral mcsodcrm 01’ the first ( n~andibular) arch advances secondarily to form the nzmtlit~lc and ln;ly also tw wtarded. Longacre and associates” recommended the us:0 of Carla- autogcnous boric grafts to correct the facial deformity; G\-me? , and ~~o~~PR~wcs~~ also IWV~ autoge enous bone grafting, but their patient was in adult, SUMMARY

A new case of mandibulofacial dysostosis has been reported, and the historical and embryologic aspects of this disorder have been reviewed. The syndrome represents a group of closely related, congenital, hereditary and familia.1 defects of the head and neck. Blthough it is of particular interest to the oral surgeon from the standpoint of diagnosis and surgical correction, mandibulofacial dysostosis has received lit,tle attention in the dental literature.

1. Berry, G. A.: Note on Congenital Defect (Coloboma) of Lower Lid, Royal London Ophth. Hosp. Rep. XII, Part III, pp. 225357, 1889. 2. Camubell. W. : Treacher Collins Svndrome. Brit. J. Radiol. 27: 639-641. 7954. 3. Co&, I?. T.: Cases With Symmetrical C&genital Notches in Outer Part of Each Lower Lid and Defective Development of Malar Bones, Tr. Ophth. Roe,. United Kingdom 20: 190-192, 1900. Bull. schweiz 4. Francesehetti, A. : Un syndrome nouveau; la dysostose mandil)ulo-f:Lcialr, Akad. med. Wissensch. 1: 60-66, 1944. a New TIcAretlitary Syn5. Franceschetti, A., and Klein, D.: Mandibulofacial Dysostosis; drome, Acta ophth. 27: 143-224, 1949. 6. Gyenes, V., de Gr6sz, I., and T6th, I.: Some Observations Concerning Mandibulofacial Dysostosis (Franceschetti’s Syndrome), Oaal, RTTRG., ORAJ, MED. R- ORAT, PATII. 16: 6%i2, 1963. 7. Johnstone, I. L.: Case of Deficiency of Malar Bones With Dc+wt:: of I,ower T,ids, Brit. J. Onhth. 27: 21-23. 1943. Defects in Lower Lids 8. Leodold, I. H., Mihoney, J. F., and Price, M. L.: Symmetric Associated With Abnormalities of Zygomatic Processes and Temporal Bones, Arch. Ophth. 34: 210-214, 1945. 9. Lonpacre. J. J.. Destefano. G. A.. and Holmstrand. K.: The Early Versus the Lat,e Rrcon&u&on of ‘Congenital’ Hypoilasias of the Facial Skeleton al:,1 Skull, Plast. & Reronstruct. Surg. 27: 489, 1961. 10. Mann. I.. and Kilner, T. P.: Deficienrv of Malar Rones \Vith T1efcc.t of Lower I,ids. Brit. i. dphth. 27: 13:20, 1943. 11. Pausek, E, J. : Mandibulofacial Dysostosis (Treaeher-Collins Syndrome), Am. J. Roentgcnol. 79: 598-602, 1958. 12. Stark, R. B., and Saunders, D. E.: The First Branchial Syndrome, Plast. & Rwonstruct. Surg. 29: 229-239, 1962. 13. Straith, C. L., and Lewis, J. R.: Associated Congenital Defw.tx of Kars, Eyelids, and Malar Bones (Trrachcr Collins Syndrome), Plast. K- Rwonstruc+. Surg. 4: 204.213, 1949. 3730

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