Contemporary Clinical Dentistry
   
  Home | About us | Editorial board | Search
Ahead of print | Current Issue | Archives | Advertise
Instructions | Online submission| Contact us | Subscribe |

 

Login  | Users Online: 62  Print this pageEmail this pageSmall font sizeDefault font sizeIncrease font size 



 
 Table of Contents  
CASE REPORT
Year : 2013  |  Volume : 4  |  Issue : 3  |  Page : 363-365  

Clinical spectrum of silver - Russell syndrome


1 Department of Orthodontics and Dentofacial Orthopaedics, Amrita School of Dentistry, Kochi, Kerala, India
2 Department of Pediatric Dentistry, Amrita School of Dentistry, Kochi, Kerala, India

Date of Web Publication18-Sep-2013

Correspondence Address:
Sapna N.K. Varma
Department of Orthodontics and Dentofacial Orthopaedics, Amrita School of Dentistry, AIMS Campus, Ponekkara, Kochi 682 041, Kerala
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0976-237X.118346

Rights and Permissions
   Abstract 

Silver - Russell syndrome is a clinically and genetically heterogenous condition characterized by severe intrauterine and postnatal growth retardation, craniofacial disproportion and normal intelligence downward curvature of the corner of the mouth, syndactyly and webbed fingers. Diagnosis of Silver - Russell syndrome remains clinical; no definite etiology or specific tests have been established. In the recent years, it has been shown that more than 38% of patients have hypomethylation in the imprinting control region 1 of 11p15 and one-tenth of patients carry a maternal uniparental disomy of chromosome seven. The pathophysiological mechanisms resulting in the Silver - Russell phenotype remain unknown despite the recent progress in deciphering the molecular defects associated with this condition. This case report describes the clinical features of Silver - Russell syndrome in a father and daughter.

Keywords: Postnatal growth retardation, Silver - Russell syndrome, short stature


How to cite this article:
Varma SN, Varma BR. Clinical spectrum of silver - Russell syndrome. Contemp Clin Dent 2013;4:363-5

How to cite this URL:
Varma SN, Varma BR. Clinical spectrum of silver - Russell syndrome. Contemp Clin Dent [serial online] 2013 [cited 2020 May 29];4:363-5. Available from: http://www.contempclindent.org/text.asp?2013/4/3/363/118346


   Introduction Top


Russell - Silver syndrome is a pattern of malformation first described by Silver et al., [1] in 1953 and then by Russell [2] in 1954. Silver et al., [1] reported two unrelated children with congenital hemihypertrophy, low birth weight, short stature and raised gonadotrophins. Russell described five unrelated children with extreme intrauterine growth retardation and characteristic facial features. These children were short for age and two cases had body asymmetry. The characteristic features described by him were triangular shaped face with a broad forehead, pointed and small chin together with wide, thin shark - like mouth. Although each author emphasized rather different features, the composite features have been identified as Silver -  Russell syndrome More Details. [3] Attempts to separate Silver syndrome from Russell syndrome, depending on whether asymmetry is present or absent have not generally been accepted.

This syndrome remains a clinical diagnosis as no etiology or specific tests have been established. [4] This clinically heterogenous syndrome is characterized by short stature without catch - up growth, normal head size for age, a distinctive triangular face with prominent forehead, low set ears and clinodactyly of fifth fingers. [5] Over the years, many clinical signs have been added. However, no consensus definition has yet been established making a clinical diagnosis difficult. Rare cytogenetic abnormalities were found in patients with this syndrome. Maternal uniparetal disomy for chromosome 7 was found in 5-10% of patients. Loss of methylation of 11p15 imprinting center region 1 telomeric domains have been identified in more than 35% of patients with Silver - Russell syndrome. [6]


   Case Report Top


A 12-year-old female patient presented with global developmental delay and facial dysmorphism. Her chief complaint was irregularly arranged teeth. On examination, her height was 125 cm (<3 rd %) and having the following features: Hypertelorism, triangular face, low set ears, scanty eyebrows, depressed nasal bridge, frontal bossing, poor vision of the right eye, crowding of upper and lower dental arches [Figure 1] and [Figure 2]. She was found to have an ear tag on the right ear and a pit on the left ear [Figure 3]. However, she did not have any hearing difficulties. She reported intolerance to heat and poor sweating ability. She had clinodactyly of the fingers and disproportionate toes [Figure 3]. She had trouble in running at school.
Figure 1: Triangular face with low set ears and hypertelorism of the 12-year-old girl and her father

Click here to view
Figure 2: Crowded dentition with open bite

Click here to view
Figure 3: Ear tag on the right ear and pit on the left ear and webbed fingers and disproportionate toes

Click here to view


Her facial features were leptoprosopic facial form having a facial index of 173.4 with the increase in lower facial third, convex profile, posterior divergence, hyperactive mentalis and shallow mentolabial sulcus. She had incompetent lips with interlabial gap of 10 mm. On intra oral examination, she had high arch palate and lower midline shifted to the left by 3 mm. The maxillary and mantibular dentition crowding was 8 mm and 4 mm respectively. She had Class I molar relationship on the right side and end - on the relationship on the left side. Canine relationship was Class II on both sides. She had an overjet of 3 mm and openbite of 6 mm. She was found to have crossbite in relation to the left posterior region. Cephalometric analysis indicated increased cranial base angle, decreased anterior and posterior cranial base length. Maxilla was retropositioned relative to cranium. Mandibular skeletal base was retrognathic to cranium. In short, she had Class II skeletal base, vertical growth pattern and deficient chin.

The father of this patient also had similar features [Figure 1]. The father was short. His ears were low set and had pits in both right and left ears. He also had hypertelorism, scanty eyebrows and hair on head absent, slanting eyes and poor sweating and heat intolerance. Mother and sibling of the patient were normal. Routine chromosome analysis of daughter and father indicated normal karyotypes.

Hematological investigations of the 12-year-old patient where carried out. Hematological values were within normal limits. Based on the history, clinical examination and investigation findings, a diagnosis of Silver - Russell syndrome was made. Differential diagnoses considered were Fetal Alcohol syndrome, Bloom syndrome and Robinow syndrome.

Patient was advised regarding growth hormone therapy and orthodontic correction of malocclusion. The orthodontic treatment plan was to have a period of rapid maxillary expansion followed by fixed orthodontic therapy. The phase of rapid maxillary expansion is completed [Figure 4].
Figure 4: Rapid maxillary expansion

Click here to view



   Discussion Top


The incidence of Silver - Russell syndrome range from 1 in 3,000 to 100,000 live births and it occurs in all racial groups. More than 500 cases have been reported with equal predilection to male and female. [7] Russell hypothesized an intrauterine challenge or stress at 6 and 7 weeks of gestation although Gorlin et al., suggested either an end-organ unresponsiveness to growth hormone or a biostructural abnormality in growth hormone molecule. Marks et al., [8] in 1977 has quoted studies which suggested that there is a spontaneous single gene and autosomal dominant mutation. None of these hypotheses has been confirmed. [8] The etiology is yet to be fully understood.

Individuals with Silver - Russell syndrome are short in stature. Intrauterine growth retardation results in reduction in total body cell mass and after birth, growth proceeds normally with the child always-remaining small in comparison with their peers. Insufficient growth hormone secretion has been suggested as a contributory factor in some studies. [9] Children with this syndrome have also been reported to have craniofacial disproportion, low birth weight, asymmetry, clinodactyly of the fifth finger, webbed fingers, normal intelligence, low set ears, term gestation and downward curvature of the corners of the mouth. Patient who reported to our department also had normal intelligence, short stature, craniofacial disproportion, webbed fingers and low set ears. The other features often reported in the literature are frontal bossing, syndactyly of feet and disproportionately short arms. The above-mentioned features were also present in our patient. Visual disturbance was reported as a rare finding by Perkins and Hoang-Xuan [4] and Sreedevi et al. [10] Poor vision of the right eye was reported in our patient.

Bartholdi et al., [11] studied the methylation pattern at the H 19 - insulin-like growth factor 2 locus in 201 patients with suspected Russell - Silver syndrome. Methylation defects were found to be restricted to patients who fulfilled the diagnostic criteria for Russell - Silver syndrome. They detected epimutations in an affected father and his likewise affected daughter. The father of our patient also had very similar features. The father was short in stature and having normal intelligence. He had low set ears with ear pits. He had scanty hair on head, scanty eyebrow, hypertelorism, slanting eyes, poor sweating and heat intolerance.

The five core clinical diagnostic criteria of Silver - Russell syndrome are:

  • Intra uterine retardation
  • Poor post natal growth
  • Preservation of occipitofrontal circumference
  • Classic facial phenotype
  • Asymmetry.


Due to clinical and genetic heterogeneities of this syndrome, patients who have four out of the above mentioned five features, could be diagnosed with Silver - Russell syndrome. [12]


   Conclusion Top


Silver - Russell syndrome is said to be probably under diagnosed due to the broad range of features. The main features are severe intrauterine and postnatal growth retardation, relative macrocephaly and a characteristic small triangular face. The disease is associated with additional dysmorphic features such as fifth finger clinodactyly and webbed fingers. The accuracy of clinical diagnosis is influenced by the clinicain's skill in recognizing and noting the clinical features of a patient. Early diagnosis facilitates timely administration of general and orthodontic treatment options. This will facilitate healthy and good psychological development in a child with this condition.

 
   References Top

1.Silver HK, Kiyasu W, George J, Deamer WC. Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. Pediatrics 1953;12:368-76.  Back to cited text no. 1
[PUBMED]    
2.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.  Back to cited text no. 2
[PUBMED]    
3.Black J. Low birth weight dwarfism. Arch Dis Child 1961;36:633-44.  Back to cited text no. 3
[PUBMED]    
4.Perkins RM, Hoang-Xuan MT. The Russell-Silver syndrome: A case report and brief review of the literature. Pediatr Dermatol 2002;19:546-9.  Back to cited text no. 4
[PUBMED]    
5.Gucev ZS, Tasic V, Jancevska A, Kirovski I. A case of Silver-Russell syndrome (SRS): Multiple pituitary hormone deficiency, lack of H19 hypomethylation and favourable growth hormone (GH) treatment response. J Genet 2009;88:239-43.  Back to cited text no. 5
[PUBMED]    
6.Eggermann T, Eggermann K, Schönherr N. Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome. Trends Genet 2008;24:195-204.  Back to cited text no. 6
    
7.Kumar S, Jain A, Agrawal S, Chandran S. Silver-russell syndrome: A case report. Cases J 2008;1:304.  Back to cited text no. 7
[PUBMED]    
8.Marks LJ, Bergeson PS. The Silver-Russel syndrome: A case with sexual ambiguity, and a review of literature. Am J Dis Child 1977;131:447-51.  Back to cited text no. 8
[PUBMED]    
9.Eggermann T, Gonzalez D, Spengler S, Arslan-Kirchner M, Binder G, Schönherr N. Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation. Pediatrics 2009;123:e929-31.  Back to cited text no. 9
    
10.Sreedevi P, Chaudhary S, Agnihotri PG, Reddy PB, Nagaveni NB. Russell-Silver syndrome: A case report with review of literature. J Ind Acad Oral Med Radiol 2011;23:73-5.  Back to cited text no. 10
    
11.Bartholdi D, Krajewska-Walasek M, Ounap K, Gaspar H, Chrzanowska KH, Ilyana H, et al. Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): Results from a large cohort of patients with SRS and SRS-like phenotypes. J Med Genet 2009;46:192-7.  Back to cited text no. 11
[PUBMED]    
12.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.  Back to cited text no. 12
[PUBMED]    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]


This article has been cited by
1 Silver-Russell Syndrome and Middle Cerebral Artery Infarct
Aycicek Cecen,Erhan Celikoglu,Merih Is,Ali Fatih Ramazanoglu
Neurosurgery Quarterly. 2016; 26(3): 273
[Pubmed] | [DOI]
2 FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset
Haiming Yuan,Linhuan Huang,Xizi Hu,Qian Li,Xiaofang Sun,Yingjun Xie,Shu Kong,Xiaoman Wang
Orphanet Journal of Rare Diseases. 2016; 11(1)
[Pubmed] | [DOI]
3 Perfil clínico de una cohorte de pacientes con síndrome de Silver-Russell atendidos en el Hospital Infantil de México Federico Gómez de 1998 a 2012
Carolina Isabel Galaz-Montoya,Constanza García-Delgado,Alicia Cervantes-Peredo,Leticia García-Morales,Verónica Fabiola Morán-Barroso
Boletín Médico del Hospital Infantil de México. 2014; 71(4): 218
[Pubmed] | [DOI]



 

Top
 
  Search
 
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
    Access Statistics
    Add to My List *
* Registration required (free)  

 
  In this article
    Abstract
   Introduction
   Case Report
   Discussion
   Conclusion
    References
    Article Figures

 Article Access Statistics
    Viewed2938    
    Printed38    
    Emailed0    
    PDF Downloaded193    
    Comments [Add]    
    Cited by others 3    

Recommend this journal