CASE REPORT

Orofacial findings and dental treatment in 18r- syndrome: case reportElizabeth D. Goodman-Topper, BDS, LDSRCS Marcio Guelmann, CD Joseph Shapira, DMD

IntroductionRing formation of chromosome 18 (18r- syndrome)

results from the "welding" of the two ends of the chro-mosome after deletion of both terminal segments.1 In1969, de Grouchy1 collated the findings in 53 reportedcases of autosomal aberrations of chromosome 18. Thesecomprised 23 cases of the 18p- syndrome in whichthere is a deletion of the short arm of the chromosome,20 cases of the 18q- syndrome in which there is a partialdeletion of the long arm of the chromosome, and tencases of 18r- syndrome. The 18q- syndrome is a clini-cally well-defined syndrome. The 18p- syndrome hasmany malformations in common with 18q- syndromealthough a well-defined syndrome does not emergefrom the reported cases. However, the diagnosis of18r- is almost impossible a priori, but may be suspectedwhen a combination of symptoms belonging to the18p- and 18q- syndromes occurs.

Intellectual deficit is constant in 18r- syndrome. Itsintensity varies from borderline to severe mental retar-dation. Newborns are hypotrophic and hypotonic, sei-zures have been reported, and microcephaly is nearlyconstant. Features of the 18p- syndrome reported in18r- patients include hypertelorism, bilateral epicanthicfolds, and — less frequently — abnormal slanting ofthe palpebral fissures and strabismus. Both high-archedpalate and cleft palate have been reported frequently.The most commonly observed feature of the 18q- syn-drome in 18r- patients is the carp-shaped mouth. Theears are often low set, but not malformed.

Other malformations reported in 18r- patients com-mon to both 18p- and 18q- syndromes include: con-genital heart disease, renal malformations, club feet,and hip dislocations.1

de Grouchy reported dental caries and micrognathiain the 18p- syndrome. In 1982 Taylor and Peterson2

reported a case of 18p- syndrome and its craniofacialand dental implications. They described a child with aretrognathic mandible, a tendency to an anterior openbite, a carp-shaped mouth, and a high palatal vault.The child had chronic marginal gingivitis, but few cari-ous lesions.

Case reportA female (OM) aged three years four months with

nursing bottle caries was brought for dental treatmentto the pediatric dentistry department of the Hadassah

Faculty of Dental Medicine, Jerusalem, Israel. She hadbeen referred previously to the oral surgery depart-ment because of a large and asymmetric tongue. Thechild had been born without problems in the 38th weekof an uneventful pregnancy and weighed 2.76 kg withan Apgar score of 9. A systolic heart murmur detectedat birth subsequently disappeared. Also noted imme-diately was an asymmetrically enlarged tongue, whichwas part of a generalized hypertrophy of the right sideof the body. Owing to the association of congenitalhypertrophy with Wilms' tumor, the child receivedbiannual abdominal ultrasound examinations.

Neurological review showed hypotonia and delayedpsychomotor development, so at age 19 months thechild was hospitalized for evaluation. At this hospital-ization she was an alert little girl with head circumfer-ence of 44 cm, anterior fontanelle open, and measuring3x2 cm. She had remnants of a hemangioma on theforehead. The eyes had pronounced epicanthal foldsand the pupils were equal and responded well to light.The nose was small and slightly bossed. The palatewas high and the lower lip protuberant. The tonguewas large, protruded from the mouth, and the rightside was significantly larger than the left, which waspart of the diffuse unilateral muscular hypertrophy.Measurements were made of the lower limbs, and the

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Fig 1. Karyotype illustrates ring formation of chromosome 18(arrow).

Pediatric Dentistry: March/April 1994 - Volume 16, Number 2 139

Fig 3. View shows the habitualtongue protrusion.

Fig 2. Radiographs showing dental caries. Note the huge spaceasymmetric macroglossia.

muscles of the right thighand calf were found tohave a greater circumfer-ence than those of theleft. The right leg wasalso longer. OM was notyet sitting unsupportedand was only verbalizingmonosyllabically.

At this time geneticexamination revealedring formation of chro-mosome 18 (Fig 1). Thefamily history revealedthat the parents werehealthy and neither wasof advanced age. An

older daughter also suffers from mild hypotonia. Ason born since, after amniocentesis, is healthy and ofabove-average intelligence.

Dental findings and treatmentOM presented with nursing bottle caries. All the

maxillary teeth were affected by caries. The mandibu-lar teeth were unaffected. Unusually large spacing wasdetected between the mandibular right primary canineand first primary molar. The presence of all the devel-oping tooth germs was confirmed except for that of themandibular right second premolar. Radiographs (Fig2) confirmed the clinical findings. Asymmetricmacroglossia was noted with the tongue always pro-truding from the mouth (Fig 3).

Treatment was performed with conscious sedationusing hydroxyzine and nitrous oxide/oxygen and aPapoose Board® (Olympic Medical Group, Seattle, WA).

140 Pediatric Dentistry: March/April 1994 - Volume 16, Number 2

between the mandibular right primary molar and cuspid due to

Fissure sealants were placed on all mandibular andmaxillary second primary molars, stainless steel crownson the maxillary first primary molars and polycarbon-ate crowns on the maxillary primary canines and cen-tral incisors. The maxillary primary lateral incisorswere extracted.

At 6-1/2 years old, OM underwent tongue reduc-tion. At that time, her physical development was ap-propriate for her age; she had marked mandibular prog-nathism, which was later discovered to be posturalowing to the protrusive tongue. There was a concomi-tant anterior open bite. Other dental findings werenormal. The partial glossectomy was performed undergeneral anesthesia. The child was treated with intrave-nous antibiotics and discharged in good condition af-ter a week. Six months postglossectomy the tongue nolonger protruded from the mouth (Fig 4).

At age 7 years 7 months, the child was seen forroutine dental treatment, which was performed as be-

Fig 4. Intraoral view at six months postglossectomy showingretention of the tongue within the oral cavity.

Figs 5 and 6. Extraoral and intraoral views one year postglossectomy show thepersistence of the anterior open bite although the tongue is well inside the mouth.

Fig 7. Intraoral lateral view one year postglossectomy showingthe persistent spacing between the mandibular right first primarymolar and canine.

fore with conscious sedation. Oral hygiene was verypoor, resulting in gingival inflammation. The impor-tance of maintaining a high standard of oral hygienewas emphasized to the parents. One year after theglossectomy, the anterior open bite (Fig 5) attested tothe persistence of a tongue thrust, but the tongue ha-

Table. The frequencies of various features in reported cases of 18p- and 18q- syndromescompared with those found in OM

Pronounced epicanthal folds

Bossed nose

High-arched palate

Macroglossia

Dental decay

Carp-shaped mouth

Micrognathia

Macrognathia

Midface dysplasia

Hypotonia

Mental deficit

OM

VVVVV

VV

18p (%)

26

34.8

34.8

52.2

4.3

100

18q (%) 18r (%)

50

20

50 40

20.8

58.3

50 50

100 100

bitually remained inside the mouth (Fig6). The large spacing between the man-dibular right canine and the primaryfirst molar remained (Fig 7).

DiscussionAmong the findings cited by de

Grouchy1 in the 18p- syndrome are den-tal caries and micrognathia. It wouldseem unlikely that dental caries per se isan integral part of any of these syn-dromes although the phenomenon de-scribed may have been dental hypopla-sia. In the case presented, the caries wasdue to nursing bottle use. Strikingly, all

of the mandibular teeth were protected by the inordi-nately large tongue, and thus were unaffected. Theasymmetric, large tongue was probably the cause ofthe unilateral large space between the mandibular rightcanine and primary first molar. Micrognathia was nota feature here — after the glossectomy the teeth oc-cluded. Macroglossia does not seem to have been afeature in previous reports of the 18p, I8q-, or 18r-syndromes. In the present case, macroglossia was themost prominent feature, and it was the first symptomnoticed at birth, that led to assessing the child andsubsequently diagnosing the disorder.

The primary idiopathic hypertrophy of the tonguediagnosed here was part of a unilateral hypertrophy ofthe right side as classified by Shafer.3

The decision as to whether or not to perform a par-tial glossectomy should be based on assessing both thelevel of functional disturbance as well as psychologicconsiderations. Severe macroglossia can interfere withnormal speech, can result in episodic respiratory diffi-culties and dysphagia, and can cause drooling. Also,the tongue and oral mucosa may dry out causing ulcer-ation. Anterior and lateral open-bite malocclusions are

frequent, while mandibularprognathism and Class IIImalocclusions also occur. Ifthe child can approximatehis teeth with the tongue in-side the mouth and not biteit, there is no clear indica-tion for surgical correction.4

Psychologic consider-ations have two aspects.First is the trauma caused toa patient who is sufficientlyaware of his appearance tobe sensitive to a protrudingtongue. Second, several in-vestigations have shown thata person's appearancegreatly affects his acceptanceby society. Teachers tended

Pediatric Dentistry: March/April 1994 - Volume 16, Number 2 141

to have higher expectations of the more attractive stu-dents than of their less attractive peers. 5 It has beenfound that infants spent a great deal more time gazingat pictures of women who had previously been gradedas attractive than at pictures of women who had beenclassified unattractive. 6 In one investigation, a groupof Down syndrome patients underwent plastic surgeryin order to correct the characteristic stigmata of thesyndrome (including macroglossia). Parents and teach-ers were then asked to rate the improvement both inesthetics and function, and the partial glossectomy wasconsidered the most successful in improving appear-ance while function (eating, drinking, and speech) wasalso considered vastly improved.7

In this child, esthetics and speech difficulties par-ticularly disturbed the parents. The child was unableto close her mouth without biting down on the tongue.After the partial glossectomy, there was a great im-provement in the child’s speech and the family wasvery pleased with the esthetic result.

Dr. Goodman-Topper is an instructor and Dr. Shapira is an associateclinical professor in the department of pediatric dentistry of theHadassah Faculty of Dental Medicine, Hebrew University, Jerusa-lem, Israel. Dr. Guelmann is in private practice.

Reprint requests to Dr. Joseph Shapira, Department of PediatricDentistry, Hadassah Faculty of Dental Medicine, P.O. Box 1172,Jerusalem 91010 Israel.

1. de Grouchy J: The 18p-, 18q- and 18r- syndromes. In BirthDefects, Original Article Series. D Bergsma ED. White Plains,NY: The National Foundation March of Dimes, May 1969 Vol.5 pp 74-87.

2. Taylor MH, Peterson DS: 18p- syndrome: craniofacial and den-tal implications. J Pedod 6:261-69, 1982.

3. Shafer AD: Primary macroglossia. Clin Pediatr 7:357-63, 1968.4. Mason RM, Serafin D: The tongue: multidisciplinary consider-

ations. In Pediatric Plastic Surgery. Serafin D, Georgiade NG,EDS. St. Louis: CV Mosby Co. 1984, Vol. 2, p 718.

5. Clifford M, Walster E: The effect of physical attractiveness onteacher expectations. Soc Ed 46:248-58, 1973.

6. Langlois JH, Roggman LA, Casey RJ, Ritter JM, Rieser-DannerLA, Jenkins VY: Infant preference for attractive faces: rudi-ments of a stereotype?: Dev Psychol 23:363-69, 1987.

7. Wexler MR, Feuerstein R: Rehabilitatory plastic surgery inDown’s syndrome patients. S Zak et al. Jerusalem, 1988, pp 54-63.

1994

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142 Pediatric Dentistry: March/April 1994 - Volume 16, Number 2