sotos syndrome: a case report

S O T O S S Y N D R O M E A N D O R A L C A R E M A N A G E M E N T

ABSTRACT Sotoa Syndrome is a genetic condition characterized by etxelerated bone development, abnormal cmniofacial mor- phdogy and p.ydr- developmental -on. The behavioral problems uawlly d a t e d with the syndrorc~ induda poor d e l skills. anxi* and/or i W t i t y . Oral findings indude prognathiam and a high-arched palate with premature eruption of the teeth. Delayed psydromotor develop. ment i m w s the rirk for cerb. A pmo~l i zed p~evbnthre treatment plan with cforo euporvidon of the patient’s oral health care is required. This paper documents a CMld diagnosed with Sotos syndrome a d de.a(kr the primary clinical features, tho di-specific ctnniofedal, oral and dental findings, and dental cam management of this patient.

Sotos Syndrome: A case report Jaciara Miranda Gomes-Silva, DDS;’ Denise Belucio Ruviere, DDS;* Regina Aparecida Saiani Segatto, DDS;’ Alexandra Mussolino de Queiroz, DDS, MSC;~* Aldevina Campos de Freitas, DDS, MSc, ScD‘

lpediatric Dentist, Research Fellow; 2Postgraduate Student; 3Assistant Professor, Discipline of Pediatric Dentistry; 4Professor, Discipline of Pediatric Dentistry, Department of Pediatric Clinics, Preventive and Social Dentistry School of Dentistry of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto, SP, Brazil. *Corresponding author e-mail: [email protected]

Spec Care Dentist 26(6): 257-62, 2006

I n t r o d u c t i o n Sotos Syndrome, previously known as “cerebral gigantism,” is an overgrowth disorder first described by Sotos et al. in 1964.’ The clinical features of Sotos Syndrome include large body size with early accelerated growth, advanced bone development, acromegaloid features, and developmental delay, with a non-progressive neurological disorder.2 The syndrome seems to occur sporadically, although there is some evidence of a familial pattern, which may be autosomal d ~ m i n a n t . ’ ~ ~ Since the description of cerebral gigantism by Sotos and associates in 1964,’ 300 additional cases have been reported.*.’ Although Sotos Syndrome has been investigated from a medical standpoint, little information has been published regarding the oral symptoms of this disorder. This paper documents a child diagnosed with Sotos Syndrome and describes the clinical features usually manifested in these patients, and illustrates the disease-specific craniofacial, oral and dental findings.

C a s e r e p o r t In 2003, a male infant aged 3 years and 7 months, previously diagnosed with Sotos Syndrome, was admitted for dental care at the clinics of the Center of Formation of Human Resources in Dental Care for Special Needs Patients, at the Faculty of Dentistry of Ribeido Preto, University of S2o Paulo, Brazil.

A review of the family history revealed that the patient was the third child born to parents not related consan- guineously and that neither of his older siblings nor his father was affected by the disease. The mother was 29 years old when she first came to our service, and her phenotype was consistent with Sotos Syndrome. After a genetic investigation at the Clinics Hospital of Ribeido Preto, she was diagnosed as a carrier of Sotos Syndrome. She reported a delayed menarche (at age 18 years) and had two previous spontaneous miscarriages. The

patient’s mother had normal stature (1.75m) with long extremities, a long face, slightly prominent forehead and normal hair in the frontoparietal regions. Her palate was high and a significant number of her permanent teeth were absent, either having been extracted or being congenitally missing. Her hands and feet were large and she exhibited thalassemia (Figure 1).

An evaluation of the childs medical history revealed that he was born by spontaneous delivery after 36 weeks of pregnancy. He was born with respiratory disorders, weighed 3.85 kg and was 50 cm long. During the first postnatal month, the patient was maintained on artificial respiration and had feeding difficulties, so he was not breast-fed.

he was diagnosed as having Sotos Syndrome with psychomotor developmental retardation. On physical

At the age of 3 years and 5 months,

Gornes-Silva et a / . Spec Care Dent ist 26(6) 2006 257


Figure 1. Picture of mother and child - note the mother’s facial features, which are diagnostic for Sotos Syndrome.

examination, his height was 108 cm, weight was 23.2 kg and head circumference was 57.2 cm (+ 2.0 SD). He was noted to be above the 97th percentile for height and weight.

The patient had acromegaloid features, ocular hypertelorism, an elongated face, a prominent forehead, downslanting palpebral fissures, malformed pavilion of the ear (Figure 2A) and large hands and feet (Figures 2B and C). The mother also reported that the child had behavioral problems and was aggressive. He also had delayed motor milestones, hearing loss, and he still did not speak.

nance image (MRI) showed brain atrophy and ventricular dilatation. Evaluation of radiographic images of the carpal bones showed that the bone development was compatible with the patient’s chronological age. Blood karyotype with G-banding normal chromosomes (46, XU) were found in lymphocytes. An evaluation of the panoramic, periapical and

Evaluation of a cranial magnetic reso-

Figure 2. 2A. Typical facies of the child at age 3 years. 2B. Note the large hands and 2C. large feet.

occlusal radiographs showed dental anomalies such as talon cusps on the unerupted maxillary central incisors; the mandibular right primary lateral and the central incisors appeared as a fused tooth; and there was agenesis of a permanent mandibular incisor (Figure 3).

When the patient first came to our clinic, the oral findings we saw included a high-arched palate, mandibular prognathism, and premature eruption of the teeth as the mother reported that the first tooth erupted before the fourth month after birth. There were multiple carious lesions of the primary teeth, ranging from mild to severe (Figure 4). According to the mother, though the child did not speak, he had certain attitudes that she recognized as demonstrations of pain on brushing the teeth. The child had heavy dental plaque deposits and generalized gingivitis, which indicated poor oral hygiene. Since the patient had a high caries risk, treatment began with a focus on prevention, which included instruc- tion on oral hygiene care, diet counseling and improvement of oral care skills by training the parents on how to mechanically remove dental plaque. Because of the patient’s high risk for disease, the pro- posed treatment was explained to the

parents and both were required to be willing to help with treatment. Furthermore, much time and effort was invested in explaining that oral homecare was needed to support the professional care provided at the clinics and that family commitment was essential for achieving and maintaining adequate oral health. It was emphasized to the parents that unless they completely understood the importance of a partnership, a posi- tive and lasting outcome could not be achieved.

The treatment strategies included caries excavation and sealing the carious lesions with glass ionomer cement; use of a disclosing agent to show dental plaque; professional prophylaxis; and topical application of 0.12% chlorhexi- dine gluconate and 1.23% acidulated phosphate-fluoride gel. Because our Special Needs Patients Clinic primarily assists a population with little understanding of oral health care, preventive information is always reinforced and preventive measures are emphasized. The patient lives in an area with fluoridated drinking water and routinely uses a fluoridated dentifrice (1000 ppm) for daily toothbrushing. Because several cases of fluorosis have been identified in

258 Spec Care Dent ist 26(6) 2 0 0 6 Sotos Syndrome and oral care management


Figure 3. 3A. Panoramic radiograph shows a mixed dentition with dental anomalies (fusion of teeth 81-82). 38. The periapical radiograph shows talon cusps on the unerupted maxillary center incisor. 3C. The occlusal radiograph shows agenesis of a mandibular incisor.

our region, we did not prescribe a fluoridated mouthrinse but instead chose to apply topical fluoride in the office at each weekly treatment visit. After com- pletion of the treatment, topical fluoride applications were done at each monthly follow-up visit. Home applications of fluoride would not be indicated because of the childs young age and psychomotor deficit and the parents' low level of understanding. We took into account the possibility that prescription of home- applied fluoride sources could bring more risks than benefits.

were mainly to make sure the patient was pain free and to motivate him and stimulate his parents to cooperate with the treatment.

The restorativehehabilitative treatment was then carried out at subsequent appointments, such as a pulpectomy on the maxillary left primary central incisor and the extraction of the maxillary left primary first molar. The remaining carious teeth were restored with amalgam and composite resins.

After the preventivdrestorative treatment was completed, the patient was referred to the orthodontist of the multi- disciplinary team at the Center of Formation of Human Resources in Dental Care for Special Needs Patients, at the Faculty of Dentistry of Ribeirao Preto. A band-loop space maintainer was

The goals of this phase of the therapy

constructed to prevent space loss and future malocclusion (Figures 5A and 5B).

The child currently returns to our clinic every month to revaluate the restorativeh-ehabilitative treatment. Four months after the restorations were placed, new carious lesions were found. Oral hygiene instructions and counseling on dietary habits were reinforced at each visit and no more carious lesions were found thereafter. The patient's craniofa- cia1 development is still being monitored by the orthodontist. Topical applications of 1.23% acidulated phosphate fluoride gel and evaluation of dental plaque control were done at each recheck.

tory was received from our local Research Ethics Committee and the child's parents.

Permission to publish this case his-

Discussion In 1964, Sotos et al.' described the case histories of five children with overgrowth who had a characteristic facies that formed the basis of a condition known as cerebral gigantism or Sotos Syndrome. Nevertheless, 40 years later, despite the description of more than 300 additional cases, a number of questions about this condition still remain unanswered.

The syndrome is a genetic condition characterized by facilitated prenatal growth, accelerated bone development,

Figure 4. lntraoral appearance prior to dental care. Carious lesions were observed in all primary teeth.

Figure 5. lntraoral appearance after dental treatment. Note improved oral health and restored dentition.

craniofacial abnormalities similar to acromegaly, and non-progressive supra- neural symptom^.'^^.^ Cole & Hughes (1994)' suggested that the most striking feature of the face in Sotos Syndrome is the overall facies and that the major diagnostic criteria comprise ocular hypertelorism and four other signs: increased height, macrocranium, accelerated bone development and developmental delay The patient described in this case report had facilitated prenatal growth, abnormal craniofacial morphology, ocular hypertelorism and psychomotor developmental delay

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Patients with Sotos Syndrome are long at birth and grow taller than their peers during infancy and childhood. This accelerated physical development is a well-recognized feature of the syndrome and starts in utero. Disproportionately long limbs constitute much of the increase in stature. Controlling stature is the main reason for using a hormonal treatment (estrogedtestosterone or somatostatin) to limit adult height.9 Agwu et al. (1999)2 reported that most patients with Sotos Syndrome (especially females) do not require any intervention to limit adult height. Our patient's mother's height was within the normal range, which is in agreement with the findings of Smith (1989).1° She reported a delayed menarche (at the age of 18 years) and had had two previous spontaneous miscarriages. Delayed menarche, oligomenorrhea, an increased rate of spontaneous abortions and stillbirths have been reported in female patients with Sotos Syndrome."

The typical facies of patients with Sotos Syndrome includes frontal bossing, a large head circumference, downward slant of the palpebral fissures and a prominent jaw The hands and feet are also large.' Our patient exhibited all of these features. The other diseases associated with overgrowth are gigantism, fragile X syndrome and Weaver syndrome. Gigantism differs from Sotos Syndrome by the abnormally great arm span, a special physiognomy, advanced bone development and a variable degree of psychomotor disability" Fragile X syndrome is characterized by the presence of a fragile site in the terminal site (Xq27.3) of the long arm of the X chromosome and X- linked mental retardation. Sotos Syndrome is differentiated from these two diseases by the correction of overgrowth with aging7 The facial appearance of patients with Weaver syndrome is somewhat similar to that in Sotos Syndrome. Even so, experi- enced morphologists believe they are distinct. Additional features occurring in Weaver syndrome include a hoarse low- pitched cry, metaphyseal flaring of the femurs, deep-set nails, prominent finger pads, and camptodactyly"

In 21% of the patients with Sotos the neonatal period is

complicated by respiratory and feeding

disturbances, which is consistent with the medical history of our patient.

mental deficits in 75% of patients with Sotos Syndrome and they had an IQ range of 50-98. IQ assessments reported by other authors have ranged between 18 and 129.7,i2,14.15 A tendency for IQ scores to improve with age has been reported in children with Sotos Syndrome.' The decrease in intellectual ability tended to parallel delay in language development and psychomotor development and was accompanied by behavioral problems'6-18 which included inappropriate speech, attention deficit, hyperactivity, terrors (characterized by exaggerated fear of situations that should not cause such reaction), irritability, temper tantrums, behavior that indicates neurological problems with repetitive random move- ments, and sleep disturbance.'"'' 22

Significant delays in speech and perform- ance skills are observed in Sotos Syndrome but are poor prognostic indi- cators of future school achie~ement.', '~ It is possible that children who are properly stimulated and followed-up by skilled professionals do not experience learning difficulties throughout their school life. Anticipation of these problems may help with early intervention by enrolling these children in language facilitation training and infant stimulation program^.'^

had poor social skills, delayed psychomotor development and speech disturbances (he could not pronounce any word). Yet our experience with him showed that these patients may be able to cooperate with health professionals. It was not necessary to employ any physical restraint to manage the patient during treatment and the use of a mouth prop was only used at the first appointment. Specifically, we suggest that parents should be informed that these children tend to be anxious and irritable. Parents should also be encouraged to use tech- niques like behavior modification to help their children cope with new situations.

Dental care for individuals with Sotos Syndrome is Complicated by the patients' intellectual deficits, limited communica- tion skills and reduced ability to

A1 Rashed et al. (1999p reported

The patient described in this paper

understand simple procedures. Therefore, the oral health management of these special needs children must emphasize prevention. Their psychomotor deficit limits their ability to mechanically remove plaque, thus increasing their caries risk. Therefore, the parents or guardians of special needs patients must understand the need for an individualized treatment and the importance of a partnership approach involving the family and dental professionals in order to supervise the oral hygiene of the children and improve their oral health status.

Despite the number of studies indi- cating the use of stainless steel crowns for restoring primary teeth with multiple damaged surfaces in children who are at high risk for caries," 25 we decided to use amalgam. Although the primary molars had extensive caries, the amount of remaining tooth structure was suitable for placement of a multi-surface amalgam restoration. Stainless steel crowns do offer some protection against caries but their preparation requires reduction of sound tooth structure and their mar- ginal adaptation is not as good as that of amalgam restorations. Ill-fitting crowns can provide sites for plaque accumula- tion at the cervical region, especially in children with poor plaque control. Amalgam restorations have been success- fully used in our service especially when the patient can be adequately followed. In this way, failure of the restoration or development of secondary caries can be identified early. At the beginning of treatment, the patient was diagnosed as a child who was at high risk for caries. The caries risk decreased with the adoption of a preventive regimen, which included supervised toothbrushing, use of topical fluorides and anti-microbial agents as well as instructions for the parents. If the patient's risk status changes and new caries lesions are detected, placement of stainless steel crowns may be necessary

The occurrence of Sotos Syndrome is usually sporadic. Concordant and discordant monozygotic twins have been reportedLh and autosomal dominant and autosomal recessive inheritance has been observed.',' The etiology remains unknown; fragile X sites and some chro-

260 Spec Care Dent ist 26(6) 2 0 0 6 Sotos Syndrome and oral care management


mosomal abnormalities, such as deletions, duplications, and translocations of chromosome 15 and chromosomes 2, 3, 6, and 12 have been identified.l’ 34 Imaizumi et al. (2002>35 isolated a point mutation among 19 individuals and provided evidence that haploinsufficiency of NSDl induces overgrowth in Sotos Syndrome. The results of a recent studysb suggested that NSDl could be involved in imprinting of the chromosome l lp15 region. Hoglund et al. (2003)33 showed that sporadic and familial Sotos Syndrome comprise a single entity and both can be caused by mutations in the NSDl gene. Similar findings were reported by Kurotaki et al. (2001).37 Chen et al. (ZOOZ>38 observed that images of perinatal fetuses at risk for Sotos Syndrome may show overgrowth and abnormalities in the brain and the skull. In the current article, we describe a familial case of Sotos Syndrome in which the mother had a postnatal diagnosis and so could not have a follow-up by clinical geneticists.

The syndrome is frequently associated with brain, cardiovascular and urinary anomalies.39 ” Ventricular dilatation, observed on cranial MRI, has been reported in 63% to 69% of patients in a large series by Schaefer et al. ( 1997).+l Conductive hearing loss is an associated finding of the s y n d r ~ m e . ~ A case of cervical instability outlines a possible connection with the Cefle et al. (2002)44 documented the case history of a patient with Sotos Syndrome, which was associated with chronic renal failure due to autosomal dominant polycystic kidney disease. Eye involvement includ- ing glaucoma and retinal atrophy has also been reported.45 47 Malignant disease such as lymphoproliferative disorders and several other types of cancer, includ- ing Wilms’ tumor, neuroblastoma, hepatocellular carcinoma and acute lym- phoblastic leukemia have been documented.4* 51 Our patient had hearing loss and ventricular dilatation, which was seen in a cranial MRI.

A majority of patients with Sotos Syndrome have congenital heart defect~,5’-~~ which requires the use of antibiotics for prophylaxis to prevent infection before

invasive dental procedures, such as extractions or periodontal surgery.55

ciated with Sotos Syndrome are prognathism, premature eruption of the teeth and a high-arched ~a la t e , ’ .~ ,*~ which were present in our patient. An earlier case suggested that enamel hypoplasia and absence of tooth germs of some permanent teeth should be added to the symptoms of Sotos Syndrome. Our patient did not have enamel hypoplasia, but there was agenesis of a permanent mandibular incisor. Other dental anomalies we found in this patient were talon cusp (teeth #8, #9), and a fused tooth (9 and #q>, which have not been previously described in the literature. Tooth sizdarch circumference discrepancies and the narrow, high-arched palate and prognathism of the mandible require that the patient receives an orthodontic evaluation.

Further studies are necessary to develop a more reliable and scientific prognosis for Sotos Syndrome. Since the incidence of malignancies is not an uncommon complication of the syndrome, sufficient care must be exercised to anticipate critical situations. Some cli- nicians appear unwilling to provide assistance to special needs individuals, due to their lack of knowledge of the disease-specific manifestations and implications. Our patient lived 300 kilo- meters from our school and was brought to our clinic because neither the general practitioners nor the pediatric dentists from the city where he lived would accept him for treatment because they were not familiar with his syndrome. The physical disabilities, limitations and medical problems of children with special needs are sometimes so demanding that oral health care is not considered a prior- ity. However, parents must be aware that neglecting daily oral hygiene can lead to dental problems which can cause avoid- able discomfort and pain, and which may have systemic implications for their children. The parent’s commitment to the childs dental treatment is therefore of paramount importance and will result in a partnership to improve the oral health of these special patients.

Among the oral findings usually asso-

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sotos syndrome: a case report

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