a syndrome is a group of signs and symptoms that occur together and characterize a particular disease or abnormality . it is characteristic of certain of these conditions to follow a strict mendelian pattern of heredity . an adequate in - depth investigative record of the individual who is presenting with such condition is essential . skeletal dysplasias are a heterogenous group of disorders that result in a disproportionate short stature . attempting to reach a unified nomenclature system , an international nomenclature and classification was proposed in 1969 , which was subsequently updated in the years 1992 and 1997 . in the 2001 revision , the term dysostoses was incorporated , which referred to malformations of individual bones , single or in combination , and did not refer to a generalized disorder of the skeleton . the acrofacial dysostoses are a heterogenous group of disorders that affect the skull and other skeletal bones . the curry hall syndrome ( weyer 's acrofacial dysostosis ) was first described in 1952 , by weyer , as postaxial polydactyly ( poads ) , now also known as the miller 's syndrome . the syndrome is characterized by postaxial polydactyly , dysplastic nails , oligodontia , enamel hypoplasia , and conical teeth . weyer 's acrofacial dysostosis is distinct from , and yet has some features in common with , the elli - van creveld syndrome ( evc , mim 225500 ) . evc is an autosomal recessive skeletal dysplasia characterized by short limbs , short ribs , postaxial polydactyly , and dysplastic nails and teeth . congenital cardiac defects , most commonly defects of primary atrial septation producing a common atrium , occur in 60% of the affected individuals . this entity has been mapped to chromosome 4p16 , which is same as that affected in weyer 's acrofacial dysostoses . majority of evc patients have mutations either in evc or evc2 and the phenotypes associated with mutations in these genes are clinically indistinguishable , whereas , in the weyers syndrome only two mutations , s307p in evc and c.3793delc in evc2 , have been identified to date . there are very few weyers cases described with mutations and interestingly most of them have been found carrying heterozygous mutations in the last exon of evc2 . weyer syndrome has a lower prevalence than evc and is considered a less severe form . we present two cases of a 15-year - old boy and his 14-year - old sister , presenting with features suggesting partial expression of weyer 's acrofacial dysostoses and an overlap with the features of the evc syndrome . through these case reports we would be highlighting the need for a methodology for classifying or naming the syndromes where a heterogenous group of disorders are present . this would be pertinent and have a specific relevance to a situation where syndromes show an overlap of the features of differing designations , and would also address the problem of identifying the syndrome in cases of partial expression of the phenotypes . a 15-year - old - boy and his 14-year -old sister , the third and fourth among eight children of consanguineous andnormally developed parents reported to the department with a major common complaint of discolored and worn down teeth , desiring treatment and replacement of the missing teeth . the 15-year - old boy was apparently asymptomatic up till seven years of age when he had first noticed the beginning of discoloration and chipping of his teeth . subsequently many teeth were found to be carious and he had undergone multiple extractions over the past 8 years . on general examination , a short stature ( 138 cm ) , with short limbs and a moderate build were noted . frontal bossing with receding hairline [ figure 1 ] , hypotelorism with antimongoloid slant of the eyes was also seen [ figure 1 ] . a thorough intra - oral examination revealed oligodontia , with widely spaced , discolored , malformed dentition , and over - retained deciduous teeth with pulpal exposure in all teeth [ figure 2 ] . intra - oral photograph shows malformed dentition with pulpal exposure of all teeth in the maxillary arch . an orthopantomogram ( opg ) revealed multiple unerupted permanent teeth , multiple missing permanent tooth germs , short roots , and enlarged pulpal chambers [ figure 4 ] . orthopantomograph shows multiple unerupted teeth and missing permanent tooth germs ( black arrow ) , short roots ( white arrow ) , and enlarged pulpal chambers ( dashed arrow ) . cephalometric analysis of the lateral cephalogram confirmed the presence of a hypoplastic maxilla , increased mandibular gonial , and increased mandibular body length . the abnormal sella and presence of wormian bones were the prominent findings in the skull . the remaining teeth specimens were decalcified in 10% nitric acid , processed , sectioned , and stained with the routine hematoxylin and eosin stain . a 14-year - old - girl also complained of worn out and multiple missing teeth . the general physical examination revealed a short stature ( 128 cm ) , short limbs , short ribs , and dysplastic nails and teeth . an extra - oral examination showed dolicocephalic , hypoplastic maxilla , frontal bossing , receding hair line , antimongoloid slant of eyes , and poor vision [ figure 5 ] . her prenatal and natal histories were uneventful and she had attained all the developmental milestones at the appropriate time . extra - oral photograph shows dolicocephalic , hypoplastic maxilla ( white arrow ) , with anti - mongoloid features ( black arrow ) . an intra - oral examination revealed partial ankyloglossia , widely spaced attrited teeth , discolored malformed dentition with hypoplastic enamel , oligodontia , large pulp chambers , and a collapsed bite [ figures 6a and 6b ] . ( a ) intra oral photograph of the maxillary arch shows multiple missing teeth ( b ) intra oral photograph shows ankyloglossia ( arrow ) , widely spaced , discolored , and malformed teeth . the opg showed multiple impacted teeth , multiple missing permanent tooth germs , retained teeth , short roots , and enlarged pulp chambers [ figure 7 ] . a hand - wrist radiograph showed incomplete capping of the epiphysis of the mid phalanx and incomplete fusion of the epiphysis and diaphysis of the radius [ figure 8 ] . orthopantomograph shows multiple impacted teeth , multiple missing permanent tooth germs , retained teeth ( arrow ) , short roots ( arrow ) , and enlarged pulp chambers ( arrow ) . hand - wrist radiograph shows incomplete capping of the epiphysis of the mid phalanx ( small arrow ) and incomplete fusion of the epiphysis and diaphysis of the radius ( large arrow ) . after a thorough search and symptomatic analysis the diagnosis was narrowed down to two syndromes : 
 weyers acrofacial dysostosesevc syndrome 
  weyers acrofacial dysostoses these syndromes show a plethora of features among which a few matched with the cases presented here . the 15-year - old boy was apparently asymptomatic up till seven years of age when he had first noticed the beginning of discoloration and chipping of his teeth . subsequently many teeth were found to be carious and he had undergone multiple extractions over the past 8 years . on general examination , a short stature ( 138 cm ) , with short limbs and a moderate build were noted . frontal bossing with receding hairline [ figure 1 ] , hypotelorism with antimongoloid slant of the eyes was also seen [ figure 1 ] . a thorough intra - oral examination revealed oligodontia , with widely spaced , discolored , malformed dentition , and over - retained deciduous teeth with pulpal exposure in all teeth [ figure 2 ] . intra - oral photograph shows malformed dentition with pulpal exposure of all teeth in the maxillary arch . an orthopantomogram ( opg ) revealed multiple unerupted permanent teeth , multiple missing permanent tooth germs , short roots , and enlarged pulpal chambers [ figure 4 ] . orthopantomograph shows multiple unerupted teeth and missing permanent tooth germs ( black arrow ) , short roots ( white arrow ) , and enlarged pulpal chambers ( dashed arrow ) . cephalometric analysis of the lateral cephalogram confirmed the presence of a hypoplastic maxilla , increased mandibular gonial , and increased mandibular body length . the abnormal sella and presence of wormian bones were the prominent findings in the skull . the remaining teeth specimens were decalcified in 10% nitric acid , processed , sectioned , and stained with the routine hematoxylin and eosin stain . a 14-year - old - girl also complained of worn out and multiple missing teeth . the general physical examination revealed a short stature ( 128 cm ) , short limbs , short ribs , and dysplastic nails and teeth . an extra - oral examination showed dolicocephalic , hypoplastic maxilla , frontal bossing , receding hair line , antimongoloid slant of eyes , and poor vision [ figure 5 ] . her prenatal and natal histories were uneventful and she had attained all the developmental milestones at the appropriate time . extra - oral photograph shows dolicocephalic , hypoplastic maxilla ( white arrow ) , with anti - mongoloid features ( black arrow ) . an intra - oral examination revealed partial ankyloglossia , widely spaced attrited teeth , discolored malformed dentition with hypoplastic enamel , oligodontia , large pulp chambers , and a collapsed bite [ figures 6a and 6b ] . ( a ) intra oral photograph of the maxillary arch shows multiple missing teeth ( b ) intra oral photograph shows ankyloglossia ( arrow ) , widely spaced , discolored , and malformed teeth . the opg showed multiple impacted teeth , multiple missing permanent tooth germs , retained teeth , short roots , and enlarged pulp chambers [ figure 7 ] . a hand - wrist radiograph showed incomplete capping of the epiphysis of the mid phalanx and incomplete fusion of the epiphysis and diaphysis of the radius [ figure 8 ] . orthopantomograph shows multiple impacted teeth , multiple missing permanent tooth germs , retained teeth ( arrow ) , short roots ( arrow ) , and enlarged pulp chambers ( arrow ) . hand - wrist radiograph shows incomplete capping of the epiphysis of the mid phalanx ( small arrow ) and incomplete fusion of the epiphysis and diaphysis of the radius ( large arrow ) . after a thorough search and symptomatic analysis the diagnosis was narrowed down to two syndromes : 
 weyers acrofacial dysostosesevc syndrome 
  weyers acrofacial dysostoses these syndromes show a plethora of features among which a few matched with the cases presented here . the patients described here , had features common to evc and weyer 's acrofacial dysostosis as elaborated in table 1 . comparative evaluation of features in the present cases with evc syndrome and weyers acrofacial dysostosis ellis - van creveld is an autosomal recessive skeletal dysplasia characterized by short limbs , postaxial polydactyly , short ribs , and dysplastic nails and teeth . congenital cardiac defects occur in 60% of the affected individuals and the disease is mapped to chromosome 4p 16 . the syndrome can be diagnosed during the prenatal period , starting from the eighteenth week of gestation , by ultrasonography , or later by clinical examination after birth . chondrodysplasia is the most common clinical feature affecting the tubular bones , resulting in a serious ossification defect . in consequence , the distal extremities of the limbs are short and the patient is small in stature . baujat et al . , have demonstrated that the growth hormone therapy is not effective in these patients . however , there is one published case that has shown a favorable result in growth following hormonal treatment . orofacial digital syndromes present with variable and overlapping phenotypic features , rendering this syndrome difficult to classify and differentiate from other syndromes of a similar clinical spectrum like evc and weyers syndrome . it results from a dominant sex - linked inheritance ; they are limited to women and clinically characterized by multiple gingivolabial frenula , hypoplasia of the nasal cartilages , moderate mental retardation , fissured tongue , and in one - third of the cases ankyloglossia . in the year 1952 , weyers described a syndrome of postaxial polydactyly , anomalies of the lower jaw , dentition , and oral vestibule , and proposed the name the occurrence of nail anomalies is non - obligatory and incomplete penetrance has been suggested . weyers acrofacial dysostoses ( mim 193550 ) is considered a similar , but milder phenotype of evc and has been mapped in a single pedigree to an area that is also a critical genomic region for the evc syndrome mutation . according to mckusick both these syndromes ellis - van creveld belongs to the short rib - polydactyly group ( srp ) . these srps are all autosomal recessive disorders that have been classified into various types ( saldino - noonan syndrome , type i ; majewski syndrome , type ii ; verma - naumoff syndrome , type iii ; beemer - langer syndrome , type iv ; and jeune dystrophy ) . they are characterized by hypoplastic thorax due to short ribs , short limbs , frequent polydactyly , and visceral abnormalities , and are detected prenatally . radiographically and histologically , srp iii ( verma - naumoff syndrome , omim 263510 ) resembles some forms of evc . a combination of orthodontics , surgery , and prosthetics is essential to correct the craniofacial morphology and dental defects , aiming to achieve satisfactory functional and esthetic result . dental treatment should be made under low antibiotic prophylaxis due to the high incidence of heart pathology in these patients . prognosis of the final body height in individual patients is difficult to predict , as a few publications have been reported in literature on adult patients . although postaxial polydactyly is a constant clinical finding seen in both evc and weyers syndrome , in the present cases this feature is not seen . therefore , the authors suggest the need for further gene analysis that consider the possibility of mutation at different gene loci . in the current study , we found many features overlapped with those associated with weyers acrofacial dysostoses , such as , short limbs , dysplastic teeth , and lower jaw abnormalities . this definitely indicates possible incomplete penetrance and partial expression of the phenotypic characteristics . on account of the consanguinity of the pedigree and the parents being healthy , proper systematic methodology is needed in classifying or categorizing the syndromes discussed . further case series are required to exactly demarcate these syndromic conditions from others , as the clinical spectrum of evc and weyers syndrome is not well delineated at present . molecular testing in the affected individuals is required to ascertain whether they have mutations in evc or evc2 , and whether the patients are homozygous or heterozygous for these changes .
skeletal dysplasias are a heterogenous group of disorders combining abnormalities in the skull and other skeletal bones . 
 weyers acrofacial dysostosis also known as weyers acrodental dysostosis was first described in 1952 , by weyers , as a postaxial polydactyly , which had features distinct from , yet some in common with the ellis - van creveld syndrome ( evc ) . both the syndromes have been mapped to the same chromosome , 4p16 . 
 the cases reported here highlight the overlapping features of both syndromes , which are dissimilar in mode of inheritance and phenotypic severity , emphasizing the need for genetic analysis , to categorize these conditions .