russell - silver syndrome is a pattern of malformation first described by silver et al . , in 1953 and then by russell in 1954 .
silver et al . , reported two unrelated children with congenital hemihypertrophy , low birth weight , short stature and raised gonadotrophins .
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 .
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 .
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 . over the years , many clinical signs have been added .
loss of methylation of 11p15 imprinting center region 1 telomeric domains have been identified in more than 35% of patients with silver - russell syndrome .
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 % ) 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 [ figures 1 and 2 ] .
she was found to have an ear tag on the right ear and a pit on the left ear [ figure 3 ] .
triangular face with low set ears and hypertelorism of the 12-year - old girl and her father crowded dentition with open bite ear tag on the right ear and pit on the left ear and webbed fingers and disproportionate toes 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 .
on intra oral examination , she had high arch palate and lower midline shifted to the left by 3 mm .
she had class i molar relationship on the right side and end - on the relationship on the left side .
cephalometric analysis indicated increased cranial base angle , decreased anterior and posterior cranial base length .
in short , she had class ii skeletal base , vertical growth pattern and deficient chin .
he also had hypertelorism , scanty eyebrows and hair on head absent , slanting eyes and poor sweating and heat intolerance .
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 ] . rapid maxillary expansion
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 .
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 . , 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 .
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 .
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 .
. visual disturbance was reported as a rare finding by perkins and hoang - xuan and sreedevi et al .
, 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 .
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 retardationpoor post natal growthpreservation of occipitofrontal circumferenceclassic facial phenotypeasymmetry . 
 
intra uterine retardation poor post natal growth preservation of occipitofrontal circumference classic facial phenotype 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 .
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 .
 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 . 
Introduction
Case Report
Discussion
Conclusion