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it is the most common form of skeletal dysplasia and is characterized by short limb dwarfism , affecting the growth of the tubular bones , spine and skull .
its clinical phenotype has been recognized for centuries and the notion that it reflects a disturbance of cartilage - mediated ( endochondral ) bone growth has existed for about 100 years .
it occurs as a result of mutation in one copy of the fibroblast growth factor receptor 3 genes ( fgfr3 ) [ online mendelian inheritance in man database ( omim ) - entry i d : 134934 ] of which more than 95% of patients have the same point mutation in fgfr3 .
characteristic phenotypic features include disproportionate short stature , megalencephaly , a prominent forehead ( frontal bossing ) , midface hypoplasia , rhizomelic shortening of the arms and legs , a normal trunk length , prominent lumbar lordosis , genu varum and a trident hand configuration .
the dentition typically is normal ; however , delayed eruption of teeth with malocclusion is reported in some cases .
a 16-year - old female reported to department of oral medicine and radiology with the chief complaint of multiple missing teeth .
the patient was born to non - consanguineous parents , delivered normally at 8.5 months of gestation .
the patient 's father reported that she had large and dysmorphic head at the time of birth .
the gross motor developmental milestones were delayed significantly , a finding often attributed to the large head of these patients , but fine motor developmental milestones , social and adaptive milestones and language milestones were reportedly normal according to her father .
general physical examination showed short stature , with normal trunk length and rhizomelic shortening of the arms and legs [ figure 1 ] .
lumbar lordosis ; prominent buttocks ; and short , stubby fingers with trident hand configuration were also evident .
anthropometry ( at age 16 years ) revealed a height of 124 cm ( midparental target height 143.6 cm by tanner 's formula ) , weight of 42 kg , mesomelic dwarfism with upper limb to lower limb ratio of > 1 and an arm span of 100 cm ( expected to be 124 cm ) .
extraoral examination revealed facial features such as brachycephaly , midfacial hypoplasia , flat nasal bridge , frontal bossing and competent lips .
a concave facial profile was also noticed ; however , the mandible appeared normal and the chin was not prominent [ figure 2 ] .
clinical picture of patient showing short stature and rhizomelic shortening of arms and legs clinical picture showing concave profile intraoral examination revealed the presence of eight teeth ( 11 , 15 , 17 , 21 , 25 , 27 , 36 and 46 ) .
no abnormality was seen with intraoral soft tissues except for hypertonic lips [ figure 3 ] .
intraoral picture showing multiple missing teeth and hypertonic lips on radiographic examination , her orthopantomogram showed the presence of impacted maxillary canines ( 13 and 23 ) and the follicles of all third molars ( 18 , 28 , 38 and 48 ) [ figure 4 ] .
the lateral cephalogram revealed an enlarged calvarium with increased transverse diameter , shortening of the skull base with frontal bossing and a retruded maxilla .
based on the history , clinical examination and radiological investigations ; a final diagnosis of achondroplasia was made .
orthopantomogram showing presence of impacted maxillary canines and follicles of third molars lateral cephalogram showing maxillary retrusion , frontal bossing , large calvarium and shortened skull base hand - wrist radiograph showing trident hand configuration the patient and her parents were provided with genetic counseling and the generally good prognosis of the condition was emphasized .
the common mutation causes a gain of function of the fgfr3 gene , resulting in decreased endochondral ossification , inhibited proliferation of chondrocytes in growth plate cartilage , decreased cellular hypertrophy and decreased cartilage matrix production ; leading to a variety of manifestations and complications .
the gene has been mapped to band 4p16.3 . in the heterozygous state , achondroplasia is non - lethal , with most patients having a relatively normal life span and normal intelligence .
they are at risk , however , for conditions such as cervicomedullary compression , spinal stenosis , obesity or obstructive sleep apnea .
affected babies are short at birth and grow slowly throughout childhood ; the average final height for women is 123 cm and 130 cm for men .
characteristic clinical features are typically present at birth ; with affected patients having short limbs , a long narrow trunk and a large head with midfacial hypoplasia and a prominent forehead . the limb shortening is greatest in the proximal segments ( rhizomelic limb shortening ) and the fingers often display a trident configuration .
most joints are hyperextensible , but extension is restricted at the elbow . in our patient
all of these findings were present , including a height of 124 cm , rhizomelic limb shortening , large head , midfacial hypoplasia and trident hand configuration .
although the majority of affected children will be healthy , approximately 10% can develop significant complications .
the radiographic features of achondroplasia exhibit large calvarial bones with a small cranial base and facial bones .
the vertebral pedicles are short throughout the spine as noted on a lateral radiograph . the interpedicular distance , which normally increases from the first to the fifth lumbar vertebrae , decreases in achondroplasia .
the dentition of achondroplastic dwarfs is usually normal , although there may be delayed eruption .
stafne ( 1950 ) reported retarded eruption of many permanent teeth in a 30-year - old affected male .
several odonto - stomatologic manifestations of achondroplasia have been previously reported ; including skeletal and dental class iii malocclusion , a narrow maxilla , macroglossia and an open bite between the posterior teeth .
the previous cases reported in literature have showed presence of posterior cross bite , class iii malocclusion and abnormally large tongue in all the cases .
incidence of periodontal disease , benign migratory glossitis and trigeminal neuralgia in achondroplastic patients was also noted .
our patient had midfacial hypoplasia with retruded maxilla , however , marked mandibular prognathism was not observed . in our case
although hypochondroplasia is associated with dwarfism , it can be differentiated from achondroplasia by milder clinical features .
brachycephaly is much less pronounced in hypochondroplasia and also the trident hand configuration is not seen in hypochondroplasia . dealing with achondroplastic children may require special psychological management during dental treatment , as the presence of disproportionate short stature can cause a number of psychosocial and social problems .
furthermore , special precautions in head control during dental intervention are essential , due to the possible presence of craniocervical instability , foramen magnum stenosis and limited neck extension ; as these may contribute to respiratory complications .
a patient with achondroplasia not only requires specific medical management , but also requires special attention with definitive dental management along with psychological support to help him lead a normal life and cope up with the medical as well as social challenges of life .
achondroplasia is considered as a form of skeletal dysplasia / dwarfism that manifests with stunted stature and disproportionate limb shortening . 
 achondroplasia is of special interest in the field of dentistry because of its characteristic craniofacial features . 
 it has been considered as the most common short - limbed dwarfism syndrome . 
 very few authors have reported the presence of oligodontia in achondroplastic patients . 
 the present paper reports a rare case of oligodontia in a young , female , achondroplastic patient .