|Year : 2023 | Volume
| Issue : 1 | Page : 31-36
Silver–Russell syndrome in siblings with orthodontic management
Vijaylaxmi Mendigeri1, Praveen Ramdurg2, Fatima Zohar Lingadalli1, Sanjay Ganeshkar1
1 Department of Orthodontics and Dentofacial Orthopaedics, PMNM Dental College and Hospital, Bagalkot, Karnataka, India
2 Department of Oral Medicine and Radiology, PMNM Dental College and Hospital, Bagalkot, Karnataka, India
|Date of Submission||16-Jun-2022|
|Date of Acceptance||03-Oct-2022|
|Date of Web Publication||14-Mar-2023|
Dr. Vijaylaxmi Mendigeri
Department of Orthodontics, PMNM Dental College and Hospital, Bagalkot, Karnataka
Source of Support: None, Conflict of Interest: None
Silver–Russell syndrome (SRS) is a rare congenital abnormality. The incidence ranges from 1 in 3000 to 100,000 live births. It is characterized by low birth weight, asymmetric limb, relative macrocephaly, high forehead, small triangular-shaped face with small jaws, and dental malocclusion. The etiology of SRS is still unclear, but genetic alterations and family history have been attributed. The diagnosis of SRS is mainly based on physical characteristics and appearance. This article enlightens clinical versatility in dental features of SRS in two siblings and discusses the orthodontic management for dental malocclusion in the elder one.
Keywords: Clinodactyly, limb asymmetry, short stature, Silver–Russel Syndrome
|How to cite this article:|
Mendigeri V, Ramdurg P, Lingadalli FZ, Ganeshkar S. Silver–Russell syndrome in siblings with orthodontic management. J Cleft Lip Palate Craniofac Anomal 2023;10:31-6
|How to cite this URL:|
Mendigeri V, Ramdurg P, Lingadalli FZ, Ganeshkar S. Silver–Russell syndrome in siblings with orthodontic management. J Cleft Lip Palate Craniofac Anomal [serial online] 2023 [cited 2023 Mar 30];10:31-6. Available from: https://www.jclpca.org/text.asp?2023/10/1/31/371639
| Introduction|| |
Silver– Russell syndrome More Details (SRS) is a rare congenital abnormality characterized by retardation of growth during prenatal and postnatal stages of development. The incidence ranges from 1 in 3000 to 100,000 live births and is found in all races and ethnic groups and is equally seen in both males and females.
The exact cause of the syndrome is still unknown. Most of the cases were sporadic, yet few cases displayed vertical transmission. Few studies have shown genetic alterations as an etiological factor. However, the role of molecular changes remains unclear and the diagnosis of SRS is mainly based on the physical characteristics.
The physical characteristic features of the syndrome include intrauterine retardation, low birth weight, poor postnatal growth, high forehead, preservation of occipitofrontal circumference, triangular-shaped face with small jaws, and asymmetric limb. Other features that could manifest include; ophthalmological abnormalities, coffee-colored Cafe au lait spots, and renal anomalies. Increased risk of fasting hypoglycemia and, excessive sweating in infants. The oral manifestations include hypoplastic mandible, turned down corners of the mouth, microdontia, hypodontia, high arched palate, and dental malocclusions such as crowding of the teeth, reduced overjet, and overbite.,,,
Till date, very few cases of SRS have been reported. This article elucidates the clinical and oral manifestations of SRS and orthodontic management for dental malocclusion.
| Case Report|| |
A 17-year-old male patient along with his younger brother visited to the department of orthodontics from his general dentist for better management of dental malocclusion.
The medical and family history
The patient was born with a weight less than normal as per the gestational age. The developmental milestones were delayed. At the age of 6, he was diagnosed with SRS associated with growth hormone deficiency although the patient could not afford for growth hormone treatment. Parents revealed a history of consanguineous marriage (second degree) and two siblings (male) were affected.
General physical examination revealed underweight, diminutive stature (short) associated with lower limb asymmetry, clinodactyly of upper left limb fifth digit, and lower left limb fourth and fifth toe were disproportionate in size [Figure 1].
|Figure 1: (a) SRS patient with his younger brother (b) clinodactyly of left 5th figure (c) disproportionate 4th and 5th toe on left side|
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Extraoral and intraoral examination
Extraoral examination revealed near the average head circumference, a small triangular face with low-set ears, a convex profile with retrusive chin, and an incompetent lip. On intraoral examination, the patient had excellent oral hygiene with free of dental cavities. Hard tissue examination revealed Class III incisal relationship, microdontia, peg-shaped lateral incisors, and severely proclined upper incisors with Ellis Class II fracture of right and left central incisors. The patient also presented with mild crowding of the lower anterior [Figure 2].
The OPG showed upper left central incisor root was dilacerated and taurodontism was associated with the upper and lower second and third molars. The cephalometric analysis revealed a Class I skeletal relationship with ANB of 4°, mandibular plane increased at 41°. Maxillary and mandibular incisors were severely proclined [Table 1]. Additional cephalometric analysis such as frontal analysis indicated no obvious facial asymmetry, however, overall decreases in facial dimensions mainly bizygomatic and bigonial widths [Figure 3].
Younger sibling (general, extraoral, and intraoral) findings
After 1 month of his birth, he was diagnosed with SR syndrome. General and extraoral findings were similar to that of his elder brother, while in contrast, intraoral findings exhibit variations. The patient had a V-shaped lower arch associated with severe crowding, Class II division II incisor relationship, a decrease in overjet and an increase in an overbite, and moderate crowding in the upper arch [Figure 4].
Orthodontic treatment was commenced by extracting all first premolars, followed by bonding of the upper and lower arch with preadjusted 0.022 MBT prescriptions. After leveling and aligning, space closure was initiated with active lacebacks. Finishing and detailing were accomplished after space closure. The total treatment time duration was 21 months. Both upper peg-shaped laterals and fractured right central incisor were restored with resin-based composite immediately after orthodontic treatment.
| Results|| |
At the end of treatment, skeletal Class I relationship, Angle's Class I molar and Class I canine relations with 2 mm overjet, and 2 mm overbite were achieved. Harmonious soft-tissue profile and dental esthetics were established [Figure 5]. The posttreatment orthopantomogram showed parallel roots at the end of treatment [Figure 6] & [Figure 7].
| Discussion|| |
The SRS is a rare syndrome described first by Silver et.al and then by Russell. They individually highlighted divergent phenotypic characteristics of SRS, after which it was recognized and classified as SRS., SRS displayed great variation in symptoms, some are affected mildly and others severely.
Price et al. advocated diagnosis of SRS was based on clinical findings. According to him, if any of three major features out of the five diagnostic features, i.e., (i) low birth weight; (ii) short stature at the time of the original diagnosis; (iii) a characteristic craniofacial appearance as described by Russell; (iv) limb or body or facial asymmetry; and (v) clinodactyly were present then it should be diagnosed as SR syndrome.
In both siblings, all five diagnostic major classical features were observed, however, the intraoral findings showed variations. The severity of crowding was less in the elder sibling compared to the younger one which might be because of microdontia in both arches.
OPG findings of elder brother exhibited dilaceration of upper left central incisor root at apical third, after successful orthodontic treatment tooth showed good prognosis. Literature has shown that a tooth with dilaceration at the apical third along with a more obtuse angle has a better prognosis.
Taurodontism was seen in the upper and lower second and third molars. Taurodontism is a morphological abnormality of the tooth shape. Characteristic features of taurodontism are (1) the pulp chamber of the taurodont tooth is enlarged vertically, (2) the bifurcation and trifurcation are displaced apically, and (3) the roots are shortened and there is no constriction at the level of the cementoenamel junction. The taurodont tooth is more susceptible to resorption due to its shorter and thinner roots. Hence anchorage reinforcement must be done while orthodontic forces should be kept to a minimum.
| Conclusion|| |
This article highlighted the versatility in dental manifestations of the SRS and orthodontic management for dental malocclusion, thereby enhancing the overall improvement in the facial esthetics and the harmonious occlusal relationship between upper and lower teeth in a 17-year-old male.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient (s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Lucas RV Jr. Inferior vena cava, absent hepatic segment. In: Bergsma D, editor. Birth Defects Atlas and Compendium, Syndrome Identification, Original Article Series. 2th
ed, New York: Alan R Liss, Inc; 1979. p. 583.
Duncan PA, Hall JG, Shapiro LR, Vibert BK. Three-generation dominant transmission of the Silver-Russell syndrome. Am J Med Genet 1990;35:245-50.
Carl B, Rubenstein LK, Silver Russel Syndrome: A report of case. Spec Care Dent 1987;7:161-4.
Bedi R, Moody GH. A primary double molar tooth in a child with Russell-Silver syndrome. Br Dent J 1991;171:284-6.
Price SM, Stanhope R, Garrett C, Preece MA, Trembath RC. The spectrum of Silver-Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria. J Med Genet 1999;36:837-42.
Kotilainen J, Hölttä P, Mikkonen T, Arte S, Sipilä I, Pirinen S, et al
. Craniofacial and dental characteristics of Silver-Russell syndrome. Am J Med Genet 1995;56:229-36.
Silver HK, Kiyasu W, George J, Deamer WC. Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. Pediatrics 1953;12:368-76.
Russell A. A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples). Proc R Soc Med 1954;47:1040-4.
Walia PS, Rohilla AK, Choudhary S, Kaur R. Review of dilaceration of maxillary central incisor: A mutidisciplinary challenge. Int J Clin Pediatr Dent 2016;9:90-8.
Kjaer I. Morphological characteristics of dentitions developing excessive root resorption during orthodontic treatment. Eur J Orthod 1995;17:25-34.
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]