illiams syn Report of a case Juan Cobo, MD, DDS, PhD,a Juan Argiiekles, MS,6 Manuel Guillermo Ibaseta, DDS,d Oviedo, Spain
Vijande, PhD,C
UNIVERSITY OF OVIEDO Williams syndrome is a rare anomaly consisting of idiopathic hypercalcemia that is normally accompanied by aortic stenosis, moderate mental retardation, and a characteristic elfin face. Because persons with this syndrome have severe dental abnormalities, it is in the dental or orthodontic clinic that the disease can eventually be detected. A unique case of this type is reported. (ORAL SURG ORAL MED ORAL PATHOL
1992;74:756-9)
great number of cases of children with hypercalcemia appeared in England after World War II. This was the result of the children having received a dose of vitamin D of 3,000 to 4,000 units a day to prevent the nutritional deficiencies that frequently occur during wartime.’ Other forms of hypercalcemia were subsequently described. Among them is idiopathic hypercalcemia or Williams syndrome. It was described by Williams after the observation and the study of four patients with aortic supravalvular stenosis associated with moderate mental deficiency and a characteristic facial appearance, with wide mouth, thick lips, hypertelorism, short and turned-up nose, and ears of low insertion.2 More recently Martin et a1.3 defined infantile idiopathic hypercalcemia as a “persistent enigma,” although it is known that the administration of high doses of vitamin D to pregnant female rabbits provokes an aortic supravalvular stenosis and dental anomalies in their descendants.4 In some persons with Williams syndrome, a greater than normal sensitivity
“Assistant School. bPostgraduate Physiology CAssistant Physiology. dAssociate 7/13/37831
756
Professor,
Department
of Orthodontics,
Student, Department of Functional and Estomatology School. Professor, Department of Functional Professor,
Estomatology
School.
Estomatology Biology,
Area of
Biology,
Area
of
to vitamin D and elevated levels of 1,25 hydroxyvitamin D have. been found. 6 7 Although the genetic bases of the disease are not clear, there could exist an underlying disorder that may imply a dominant autosoma1 inheritance with a great variety of f0rms.s 9 CASE REPORT
A white female patient, 8 years 8 months old, and her parents visited the orthodontics clinic. The reason for the visit was a desire to obtain treatment for the malpositioning of the child’s teeth. A clinical history found the attitude of the parents to be overprotective. The child showed a willingness to begin the orthodontic treatment. No mention of pregnancy abnormalities was made. During the lactation period, the newborn had received artificial nourishment. At the time of the visit, the child was eating well but the mother believed that shefailed to masticate her food adequately. The parents made no mention of any serious prior illness,allergies, or trauma. The patient had frequent colds, although she had never had tonsillitis or adenoid vegetations. She breathed correctly through her nose. From an orthodontic point of view, she had no harmful habits with the exception of the use of a rubber dummy (pacifier) until the age of 5 years. Tooth eruption occurred late, and the general aspect of her somatic development was that of delay. The facial aspect was biprotrusive with thick lips, light epicanthus, and divergent strabismus (Figs. 1 and 2). The intraoral exploration showed a severe anterior bite (Fig. 3) with an Angle Class I molar relation. The panoramic radiograph revealed generalized agenesia and microdontia (Fig. 4). The hand/wrist radiograph showed delay with respect to her chronologic age (Fig. 5). An aortic supravalvu-
Williams syndrome
Volume 74 Number 6
Fig. 1. Frontal
view of patient with Elfin face.
Fig. 3. Intraoral
view of the anterior
Fig. 2. Lateral view of patient with Elfin face.
open bite and microdontia.
757
ORALSURG
ORAL
MmQkuLP~ni0L
December 1992
Panoramic
radiograph
of multiple
agenesia.
Fig. 6. Radiographic
Fig. 5. Hand maturation.
and wrist radiograph
of delayed
skeletai
image of kyphosis.
lar stenosis was detected by echocardiography. The radiographic images also showed the presence of kyphoscoliosis (Fig. 6) and craniosynostosis (Fig. 7). With respect to her psychological behavior, she showed problems of speech and avoided school and relationships with schoolmates. The medical diagnosis is that of Williams syndrome, based on the following findings: (1) moderate mental retardation; (2) aortic supravalvular stenosis and mitral insufficiency (reported by the pediatrician at a later date); (3) kyphoscoliosis and craniosynostosis; (4) dental anomalies(microdontia, agenesia); (5) somatic development delay; and (6) elfin face.
Volume Number
Williams syndrome
74 6
759
will lead us to refer the patient for a medical-pediatric evaluation.13 When these patients have anorexia and vomiting, we must also consider their great susceptibility to dental caries.14 We thank David H. Wallace for correction of the English manuscript.
his cooperation
in the
REFERENCES
Fig. 7.
Radiographic
image
of scoliosis.
DISCUSSION From the time Williams described his syndrome in 1961 until the studies by Jones, only 100 cases have been described.‘O The importance of a correct differential diagnosis is to avoid confusion with alterations of growth and psychological problems of hypoalimentation. From the orthodontist’s point of view, it is important to consider the possibility of making the diagnosis in the clinic when the parents think the problem is only a result of malocclusion. Thus the perception in the clinic of an Eljinface syndrome”, l2
1. Delivoria-Papadopoulis M, Battaglia FC, Bruns PD, Meschia G. Total, protein-bound, and ultrafilterable calcium in maternal and fetal plasma. Am J Physiol 1967;213:363-6. 2. Williams JCP. Barrat-Boves BG. Lowe JB. Sunravalvular aortic stenosis.‘Circulation 1961;24:311-8. _ 3. Martin NDT, Snodgrass GJAI, Cohen RD. Idiopathic infantile hypercalcemia: a continuing enigma. Arch Dis Child 1984; 59:605-13. 4. Friedman WF, Mills LF. The relationship between vitamin D and craniofacial and dental anomalies of the supravalvular aortic stenosis syndrome. Pediatrics 1969;43:12-8. regulation of cir5. Taylor AB, Stern PH, Bell NH. Abnormal culating 25 hydroxyvitamin D in the Williams syndrome. N Engl J Med 1985;306:972-5. M, Jacqz E, Guillozo H, et al. Elevated plasma 6. Garabedian 1,25-dihydroxyvitamin D concentration in infants with hypercalcemia and an Elfin facies. N Engl J Med 1985;312:948-52. J, Aksnes L, Aksle n LA, Aaskog D. Elevated 1,257. Knudtzon hydroxyvitamin D and normocalcaemia in presumed familiar William syndrome. Clin Genet 1987;32:369-374. T, Wesselhoef H. Zur genetik des Williams-Beuren 8. Grimm syndrom und der isolierten form der supravalvulaeren aortenstenose. Z Kardiol 1980;69:168-72. of the month: Williams syndrome. Clin 9. Burn J. Syndrome Genet 1980;173-6. Elfin facies syndrome: a 10. Jones KL, Smith DW. The Williams new perspective. J Pediatr 1975$X6:718-23. M, DuPont A. Ocular pathology in the 11. Jensen OA, Marborg Elfin face syndrome. Ophthalmologica 1976;172:434-44. elfin facies 12. Bennet FC, La Veck B, Sells CJ. The Williams syndrome: the psychological profile as an aid in syndrome identification. Pediatrics 1978;61:303. (elfin facies) syndrome: review of the lit13. Boraz RA. Williams erature and report of a rare case. J Dent Child 1991;58:57-9. 14. Rudolph AM. Nutrition/specific dietary needs. Norwalk, Connecticut: Appleton-Century-Crofts 1977;192-4. Reprint requests: Juan Cobo, MD, DDS, Eseuela de Estomatologia Universidad de Oviedo 33006 Oviedo, Spain
PhD
Vijande, PhD,C
UNIVERSITY OF OVIEDO Williams syndrome is a rare anomaly consisting of idiopathic hypercalcemia that is normally accompanied by aortic stenosis, moderate mental retardation, and a characteristic elfin face. Because persons with this syndrome have severe dental abnormalities, it is in the dental or orthodontic clinic that the disease can eventually be detected. A unique case of this type is reported. (ORAL SURG ORAL MED ORAL PATHOL
1992;74:756-9)
great number of cases of children with hypercalcemia appeared in England after World War II. This was the result of the children having received a dose of vitamin D of 3,000 to 4,000 units a day to prevent the nutritional deficiencies that frequently occur during wartime.’ Other forms of hypercalcemia were subsequently described. Among them is idiopathic hypercalcemia or Williams syndrome. It was described by Williams after the observation and the study of four patients with aortic supravalvular stenosis associated with moderate mental deficiency and a characteristic facial appearance, with wide mouth, thick lips, hypertelorism, short and turned-up nose, and ears of low insertion.2 More recently Martin et a1.3 defined infantile idiopathic hypercalcemia as a “persistent enigma,” although it is known that the administration of high doses of vitamin D to pregnant female rabbits provokes an aortic supravalvular stenosis and dental anomalies in their descendants.4 In some persons with Williams syndrome, a greater than normal sensitivity
“Assistant School. bPostgraduate Physiology CAssistant Physiology. dAssociate 7/13/37831
756
Professor,
Department
of Orthodontics,
Student, Department of Functional and Estomatology School. Professor, Department of Functional Professor,
Estomatology
School.
Estomatology Biology,
Area of
Biology,
Area
of
to vitamin D and elevated levels of 1,25 hydroxyvitamin D have. been found. 6 7 Although the genetic bases of the disease are not clear, there could exist an underlying disorder that may imply a dominant autosoma1 inheritance with a great variety of f0rms.s 9 CASE REPORT
A white female patient, 8 years 8 months old, and her parents visited the orthodontics clinic. The reason for the visit was a desire to obtain treatment for the malpositioning of the child’s teeth. A clinical history found the attitude of the parents to be overprotective. The child showed a willingness to begin the orthodontic treatment. No mention of pregnancy abnormalities was made. During the lactation period, the newborn had received artificial nourishment. At the time of the visit, the child was eating well but the mother believed that shefailed to masticate her food adequately. The parents made no mention of any serious prior illness,allergies, or trauma. The patient had frequent colds, although she had never had tonsillitis or adenoid vegetations. She breathed correctly through her nose. From an orthodontic point of view, she had no harmful habits with the exception of the use of a rubber dummy (pacifier) until the age of 5 years. Tooth eruption occurred late, and the general aspect of her somatic development was that of delay. The facial aspect was biprotrusive with thick lips, light epicanthus, and divergent strabismus (Figs. 1 and 2). The intraoral exploration showed a severe anterior bite (Fig. 3) with an Angle Class I molar relation. The panoramic radiograph revealed generalized agenesia and microdontia (Fig. 4). The hand/wrist radiograph showed delay with respect to her chronologic age (Fig. 5). An aortic supravalvu-
Williams syndrome
Volume 74 Number 6
Fig. 1. Frontal
view of patient with Elfin face.
Fig. 3. Intraoral
view of the anterior
Fig. 2. Lateral view of patient with Elfin face.
open bite and microdontia.
757
ORALSURG
ORAL
MmQkuLP~ni0L
December 1992
Panoramic
radiograph
of multiple
agenesia.
Fig. 6. Radiographic
Fig. 5. Hand maturation.
and wrist radiograph
of delayed
skeletai
image of kyphosis.
lar stenosis was detected by echocardiography. The radiographic images also showed the presence of kyphoscoliosis (Fig. 6) and craniosynostosis (Fig. 7). With respect to her psychological behavior, she showed problems of speech and avoided school and relationships with schoolmates. The medical diagnosis is that of Williams syndrome, based on the following findings: (1) moderate mental retardation; (2) aortic supravalvular stenosis and mitral insufficiency (reported by the pediatrician at a later date); (3) kyphoscoliosis and craniosynostosis; (4) dental anomalies(microdontia, agenesia); (5) somatic development delay; and (6) elfin face.
Volume Number
Williams syndrome
74 6
759
will lead us to refer the patient for a medical-pediatric evaluation.13 When these patients have anorexia and vomiting, we must also consider their great susceptibility to dental caries.14 We thank David H. Wallace for correction of the English manuscript.
his cooperation
in the
REFERENCES
Fig. 7.
Radiographic
image
of scoliosis.
DISCUSSION From the time Williams described his syndrome in 1961 until the studies by Jones, only 100 cases have been described.‘O The importance of a correct differential diagnosis is to avoid confusion with alterations of growth and psychological problems of hypoalimentation. From the orthodontist’s point of view, it is important to consider the possibility of making the diagnosis in the clinic when the parents think the problem is only a result of malocclusion. Thus the perception in the clinic of an Eljinface syndrome”, l2
1. Delivoria-Papadopoulis M, Battaglia FC, Bruns PD, Meschia G. Total, protein-bound, and ultrafilterable calcium in maternal and fetal plasma. Am J Physiol 1967;213:363-6. 2. Williams JCP. Barrat-Boves BG. Lowe JB. Sunravalvular aortic stenosis.‘Circulation 1961;24:311-8. _ 3. Martin NDT, Snodgrass GJAI, Cohen RD. Idiopathic infantile hypercalcemia: a continuing enigma. Arch Dis Child 1984; 59:605-13. 4. Friedman WF, Mills LF. The relationship between vitamin D and craniofacial and dental anomalies of the supravalvular aortic stenosis syndrome. Pediatrics 1969;43:12-8. regulation of cir5. Taylor AB, Stern PH, Bell NH. Abnormal culating 25 hydroxyvitamin D in the Williams syndrome. N Engl J Med 1985;306:972-5. M, Jacqz E, Guillozo H, et al. Elevated plasma 6. Garabedian 1,25-dihydroxyvitamin D concentration in infants with hypercalcemia and an Elfin facies. N Engl J Med 1985;312:948-52. J, Aksnes L, Aksle n LA, Aaskog D. Elevated 1,257. Knudtzon hydroxyvitamin D and normocalcaemia in presumed familiar William syndrome. Clin Genet 1987;32:369-374. T, Wesselhoef H. Zur genetik des Williams-Beuren 8. Grimm syndrom und der isolierten form der supravalvulaeren aortenstenose. Z Kardiol 1980;69:168-72. of the month: Williams syndrome. Clin 9. Burn J. Syndrome Genet 1980;173-6. Elfin facies syndrome: a 10. Jones KL, Smith DW. The Williams new perspective. J Pediatr 1975$X6:718-23. M, DuPont A. Ocular pathology in the 11. Jensen OA, Marborg Elfin face syndrome. Ophthalmologica 1976;172:434-44. elfin facies 12. Bennet FC, La Veck B, Sells CJ. The Williams syndrome: the psychological profile as an aid in syndrome identification. Pediatrics 1978;61:303. (elfin facies) syndrome: review of the lit13. Boraz RA. Williams erature and report of a rare case. J Dent Child 1991;58:57-9. 14. Rudolph AM. Nutrition/specific dietary needs. Norwalk, Connecticut: Appleton-Century-Crofts 1977;192-4. Reprint requests: Juan Cobo, MD, DDS, Eseuela de Estomatologia Universidad de Oviedo 33006 Oviedo, Spain
PhD
