cleidocranial dysplasia ( ccd ) is skeletal dysplasia characterized by aplasia or hypoplasia of the clavicles , characteristic craniofacial malformations , and the presence of numerous supernumerary and unerupted teeth . it is also known as marie and sainton s disease , mutational dysostosis or cleidocranial dysostosis . cleidocranial dysplasia was first described by pierre marie and paul sainton in 1898 . since then , over 1000 cases have been documented in the medical literature [ 1 , 2 ] . hesse was the first to describe in detail the defects of dentition and jaws associated with cleidocranial dysplasia . this article reports a case of ccd with a familial occurrence in a father and child reported to our institute & also discusses the complete spectrum of clinical and radiographic features in ccd . a 19-year - old male patient reported with a main complaint of pain in the upper right first molar . the facial appearance was frontal bossing , mild hypertelorism , mid - face deficiency and relative mandibular prognathism . intra - oral examination ( fig.2 ) revealed a high arched palate , unilaterally constricted maxillary arch with malaligned multiple over - retained deciduous teeth and few erupted permanent teeth . drooping shoulders with hypermobility , frontal bossing , mild hypertelorism and mid - face deficiency oral view showing high arched palate with constricted maxillary arch and multiple over - retained and few erupted permanent teeth chest radiograph showing hypoplasia of the lateral part of both clavicles and scoliosis of the upper thoracic spine . the skull , jaw , chest , pelvis and hand and wrist radiographs were evaluated . the chest x - ray ( fig.3 ) showed hypoplasia of the lateral part of both clavicles and scoliosis of the upper thoracic spine . widened cranial sutures with wormian bones , loss of pneumatisation of sphenoid sinus , frontal and parietal bossing , and hypoplastic mid - facial region were evident on skull radiographs ( fig.4 ) . the panoramic view ( fig.5 ) of the jaws showed multiple impacted teeth , over - retained deciduous teeth , hypoplastic maxillary sinus and slender coronoid processes . an abnormal pelvis shape and coxa vara were seen on the pelvis radiograph ( fig.6 ) whereas the hand and wrist radiographs ( fig.7 ) showed slender , elongated metacarpals and phalanges and tapering distal phalanges . the diagnosis of cc d was confirmed . pa and lateral skull radiograph showing widened sutures with wormian bones , frontal and parietal bossing with hypoplastic midface and loss of pneumatisation of sphenoid sinus panoramic view of the jaw showing multiple impacted teeth , over - retained deciduous teeth , hypoplastic maxillary sinus and slender coronoid process . hand and wrist radiograph showing slender , elongated metacarpals and phalanges and tapering distal phalanges . case 1 patient was accompanied by his father who was 50 years old with ( fig.8 ) short stature and drooping shoulders . his facial appearance was frontal bossing , depressed nasal bridge , mid - face deficiency , reduced lower facial height and relative mandibular prognathism . intra - orally , few teeth were present ( fig.9 ) . there was a history of extraction of all erupted teeth 25 years previously followed by complete denture prosthesis . the present teeth had erupted 4 years previously . a moderately narrow palate was also seen . detailed radiographic evaluation exhibited skeletal deformities similar to those of his son except that he had complete absence of clavicles bilaterally and a more cone shaped thorax on the chest x - ray ( fig.10 ) . skull radiographs ( fig.11 ) revealed widened sutures with wormian bones , frontal and parietal bossing . 13 ) were mild with minimal narrowing of the pelvic inlet and mild grade coxa vara . 14 ) showed thinning of the cortex and widening of medullary cavity of the proximal phalanges and slender elongated second metacarpals . the above clinical and radiological features in both cases confirmed the diagnoses of cleidocranial dysplasia . pa and lateral skull radiograph showing widened suture with wormian bones , frontal and parietal bossing and hypoplastic midface . panoramic view showing multiple impacted permanent and supernumerary teeth , hypoplastic maxillary sinus and slender coronoid process . pelvis radiograph showing minimal narrowing of pelvic outlet and mild grade coxa vara ( arrow ) . hand and wrist showing thinning of cortex and widening of the medullary cavity of the proximal phalanges and slender elongated metacarpal . a 19-year - old male patient reported with a main complaint of pain in the upper right first molar . the facial appearance was frontal bossing , mild hypertelorism , mid - face deficiency and relative mandibular prognathism . intra - oral examination ( fig.2 ) revealed a high arched palate , unilaterally constricted maxillary arch with malaligned multiple over - retained deciduous teeth and few erupted permanent teeth . drooping shoulders with hypermobility , frontal bossing , mild hypertelorism and mid - face deficiency oral view showing high arched palate with constricted maxillary arch and multiple over - retained and few erupted permanent teeth chest radiograph showing hypoplasia of the lateral part of both clavicles and scoliosis of the upper thoracic spine . the skull , jaw , chest , pelvis and hand and wrist radiographs were evaluated . the chest x - ray ( fig.3 ) showed hypoplasia of the lateral part of both clavicles and scoliosis of the upper thoracic spine . widened cranial sutures with wormian bones , loss of pneumatisation of sphenoid sinus , frontal and parietal bossing , and hypoplastic mid - facial region were evident on skull radiographs ( fig.4 ) . the panoramic view ( fig.5 ) of the jaws showed multiple impacted teeth , over - retained deciduous teeth , hypoplastic maxillary sinus and slender coronoid processes . an abnormal pelvis shape and coxa vara were seen on the pelvis radiograph ( fig.6 ) whereas the hand and wrist radiographs ( fig.7 ) showed slender , elongated metacarpals and phalanges and tapering distal phalanges . the diagnosis of cc d was confirmed . pa and lateral skull radiograph showing widened sutures with wormian bones , frontal and parietal bossing with hypoplastic midface and loss of pneumatisation of sphenoid sinus panoramic view of the jaw showing multiple impacted teeth , over - retained deciduous teeth , hypoplastic maxillary sinus and slender coronoid process . hand and wrist radiograph showing slender , elongated metacarpals and phalanges and tapering distal phalanges . case 1 patient was accompanied by his father who was 50 years old with ( fig.8 ) short stature and drooping shoulders . his facial appearance was frontal bossing , depressed nasal bridge , mid - face deficiency , reduced lower facial height and relative mandibular prognathism . intra - orally , few teeth were present ( fig.9 ) . there was a history of extraction of all erupted teeth 25 years previously followed by complete denture prosthesis . the present teeth had erupted 4 years previously . a moderately narrow palate was also seen . detailed radiographic evaluation exhibited skeletal deformities similar to those of his son except that he had complete absence of clavicles bilaterally and a more cone shaped thorax on the chest x - ray ( fig.10 ) . skull radiographs ( fig.11 ) revealed widened sutures with wormian bones , frontal and parietal bossing . 13 ) were mild with minimal narrowing of the pelvic inlet and mild grade coxa vara . 14 ) showed thinning of the cortex and widening of medullary cavity of the proximal phalanges and slender elongated second metacarpals . the above clinical and radiological features in both cases confirmed the diagnoses of cleidocranial dysplasia . pa and lateral skull radiograph showing widened suture with wormian bones , frontal and parietal bossing and hypoplastic midface . panoramic view showing multiple impacted permanent and supernumerary teeth , hypoplastic maxillary sinus and slender coronoid process . pelvis radiograph showing minimal narrowing of pelvic outlet and mild grade coxa vara ( arrow ) . hand and wrist showing thinning of cortex and widening of the medullary cavity of the proximal phalanges and slender elongated metacarpal . a 19-year - old male patient reported with a main complaint of pain in the upper right first molar . the facial appearance was frontal bossing , mild hypertelorism , mid - face deficiency and relative mandibular prognathism . intra - oral examination ( fig.2 ) revealed a high arched palate , unilaterally constricted maxillary arch with malaligned multiple over - retained deciduous teeth and few erupted permanent teeth . drooping shoulders with hypermobility , frontal bossing , mild hypertelorism and mid - face deficiency oral view showing high arched palate with constricted maxillary arch and multiple over - retained and few erupted permanent teeth chest radiograph showing hypoplasia of the lateral part of both clavicles and scoliosis of the upper thoracic spine . the skull , jaw , chest , pelvis and hand and wrist radiographs were evaluated . the chest x - ray ( fig.3 ) showed hypoplasia of the lateral part of both clavicles and scoliosis of the upper thoracic spine . widened cranial sutures with wormian bones , loss of pneumatisation of sphenoid sinus , frontal and parietal bossing , and hypoplastic mid - facial region were evident on skull radiographs ( fig.4 ) . the panoramic view ( fig.5 ) of the jaws showed multiple impacted teeth , over - retained deciduous teeth , hypoplastic maxillary sinus and slender coronoid processes . an abnormal pelvis shape and coxa vara were seen on the pelvis radiograph ( fig.6 ) whereas the hand and wrist radiographs ( fig.7 ) showed slender , elongated metacarpals and phalanges and tapering distal phalanges . the diagnosis of cc d was confirmed . pa and lateral skull radiograph showing widened sutures with wormian bones , frontal and parietal bossing with hypoplastic midface and loss of pneumatisation of sphenoid sinus panoramic view of the jaw showing multiple impacted teeth , over - retained deciduous teeth , hypoplastic maxillary sinus and slender coronoid process . hand and wrist radiograph showing slender , elongated metacarpals and phalanges and tapering distal phalanges . case 1 patient was accompanied by his father who was 50 years old with ( fig.8 ) short stature and drooping shoulders . his facial appearance was frontal bossing , depressed nasal bridge , mid - face deficiency , reduced lower facial height and relative mandibular prognathism . intra - orally , few teeth were present ( fig.9 ) . there was a history of extraction of all erupted teeth 25 years previously followed by complete denture prosthesis . detailed radiographic evaluation exhibited skeletal deformities similar to those of his son except that he had complete absence of clavicles bilaterally and a more cone shaped thorax on the chest x - ray ( fig.10 ) . skull radiographs ( fig.11 ) revealed widened sutures with wormian bones , frontal and parietal bossing . 13 ) were mild with minimal narrowing of the pelvic inlet and mild grade coxa vara . 14 ) showed thinning of the cortex and widening of medullary cavity of the proximal phalanges and slender elongated second metacarpals . the above clinical and radiological features in both cases confirmed the diagnoses of cleidocranial dysplasia . pa and lateral skull radiograph showing widened suture with wormian bones , frontal and parietal bossing and hypoplastic midface . panoramic view showing multiple impacted permanent and supernumerary teeth , hypoplastic maxillary sinus and slender coronoid process . pelvis radiograph showing minimal narrowing of pelvic outlet and mild grade coxa vara ( arrow ) . hand and wrist showing thinning of cortex and widening of the medullary cavity of the proximal phalanges and slender elongated metacarpal . it is caused by mutation in the gene on 6p21 encoding transcription factor core binding factor subunit alpha 1 ( cbfa1 ) or runt related transcription factor 2 ( runx2 ) . runx2 is a part of the fibroblast growth factor ( fgf ) and bone morphogenetic protein ( bmp ) signaling pathways in tooth and bone development respectively . fgf and bmp4 induce both msxl - dependent and msxl - independent signalling pathways in early tooth development . runx2 is a major regulator of differentiation and maturation of osteoblasts and chondrocytes . here , both father and son presented with similar skeletal and dental abnormalities . all clinical and radiographic features except that of the chest x - ray , were more prominent in the child than the father . this supports the fact that ccd is transmitted by an autosomal - dominant mode of inheritance with high penetrance and variable expressivity.1 sporadic occurrence has been reported in about 40% of cases   and autosomal recessive inheritance has also been reported . in the cases reported here , it appears that ccd occurred sporadically in the father , which was then transmitted by autosomal dominant mode of inheritance to the child . molecular genetic testing such as sequence analysis or deletion analysis can be applied in ccd for genotypic evaluation . the phenotypic spectrum of ccd ranges from mildly affected individuals with dental anomalies only , to severely affected patients with syringomyelia . though bones formed by endochondral ossification can also be affected , ccd most predominantly affects bones derived from intramembranous ossification , such as the cranium and the clavicles . the most striking skeletal defects are hypoplastic or aplastic clavicles , late closure of the fontanelles , open skull sutures and multiple wormian bones . complete absence of clavicles is seen in 10% of cases as seen here in case 2 . the thoracic cage is small and bell or cone shaped with short , oblique ribs making the individual prone to chest infections . muscle attachments to the clavicles may also be dysplastic , leading to distortion of the neck . cranial abnormalities include wide - open sutures , patent fontanelles , and the presence of wormian bones as seen in both reported cases . delayed closure of cranial sutures and fontanelles leads to frontal , parietal and occipital bossing . additionally , there may be poor or absent pneumatisation of paranasal , frontal and mastoid , sphenoid sinuses . facial features include depressed nasal bridge , hypertelorism with possible exophthalmos , hypoplastic mid - facial region and relatively prognathic mandible . pelvic features are delayed ossification with wide pubic symphysis , hypoplastic iliac wings , widened sacroiliac joints and a large femoral neck resulting in coxa vara ( a condition in which the angle between the head and neck of the femur and its shaft is decreased , usually defined as < 120 ) . hand and wrist radiographs show pseudoepiphyses of the metacarpal and metatarsal bones resulting in characteristic lengthening of the second metacarpal . retention of the deciduous dentition with delayed eruption of the permanent teeth is a relatively constant finding . delayed eruption of permanent teeth is probably attributed to generalized reduction in bone resorption and paucity of cementum . the presence of multiple supernumerary teeth has been hypothesized to result from incomplete or delayed resorption of the dental lamina . supernumerary teeth were absent in case 1 whereas case 2 showed three supernumerary teeth in lower jaw . hypoplasia of the masseter muscles is another feature , which may be due to discontinuity of the zygomatic arch . this makes the anterior border of the mandibular ramus parallel to the posterior border , and the coronoid process is directed upwards and backwards in such cases . ^ the differential diagnosis of ccd includes crane - heise syndrome , mandibuloacral dysplasia , pycnodysostosis , yunis - varon syndrome , cdags syndrome ( craniosynostosis , anal anomalies , and porokeratosis ) and hypophosphatasia etc . these conditions may share some characteristics with ccd ; however , all these are autosomal recessive disorders and have other specific features . crane - heise syndrome is characterized by a large head , poorly mineralized calvarium , cleft lip and palate , low - set dysplastic ears , hypoplastic clavicles and scapulae , agenesis of some cervical vertebrae , and genital hypoplasia . mandibuloacral dysplasia is a progressive disorder characterized by short stature , delayed closure of cranial sutures and dysplastic clavicles with mandibular hypoplasia . the joints become progressively stiff ; radiographs reveal acro - osteodysplasia of the fingers and toes , with delayed ossification of the carpal bones . several individuals develop a hyperpigmented rash and hyperkeratotic papular lesions over the trunk and extremities respectively . pycnodysostosis is characterized by short stature , osteopetrosis , short terminal phalanges , and failure of closure of the cranial sutures and fontanelles . radio - opacity of all bones is increased because of increased density of the trabecular bone but not the cortices . yunis varon syndrome is characterized by prenatal growth deficiency , wide - open fontanelles and sutures , unusual mineralization of the skull , and hypoplastic clavicles . cdags syndrome is characterized by craniosynostosis , delayed closure of the fontanelles , cranial defects , clavicular hypoplasia , anal and genitourinary malformations , and skin eruption . hypophosphatasia is characterized by a generalized defect of mineralization with delayed ossification of multiple skeletal elements . children with the infantile form may present with very poorly mineralized cranium , widened cranial sutures , short ribs , and a narrow thorax . common complications of ccd reported are pes planus , genu valgum , shoulder and hip dislocation , recurrent sinus infections , upper airway complications , recurrent ear infection , hearing loss , dental caries , osteomyelitis of the jaw bones and respiratory distress in early infancy which may be experienced because of narrow upper thoracic diameter . treatment is often directed at orthopaedic correction which includes correcting multiple dislocated shoulders , radial head or hips . if bone density is below normal , treatment with calcium and vitamin d supplementation should be considered . to correct dental complications , pusey and durie suggested removal of only the erupted teeth and use of removable prosthesis to minimize alveolar bone loss . however , subsequent eruption of retained teeth may require further surgery and modification of the prosthesis . hence , it would be appropriate to offer genetic counselling to young adults who are affected . most cases are diagnosed as an incidental finding by physicians and dentists while treating patients for unrelated conditions . family history , pathognomonic clinical and radiographic findings play a central role in the diagnosis of ccd . treatment of these patients requires a multidisciplinary approach which includes orthopaedic and dental corrections along with management of any complications of ccd . despite the obvious clinical findings , thorough radiographic evaluation is important to predict the full extent of the disease and potential complications .
introduction : cleidocranial dysplasia ( ccd ) is characterized by aplasia or hypoplasia of the clavicles , characteristic craniofacial malformations , and the presence of numerous supernumerary and unerupted teeth . 
 it affects bones derived from both intra - membranous and endochondral ossification . 
 incidence has been reported as 1 in 10,00,000 . 
 it is caused by mutation in the gene encoding transcription factor core binding factor subunit alpha l ( cbfal ) or runt related transcription factor 2 ( runx2).case report : this presentation discusses the clinical and radiographic features of a familial case of cleidocranial dysplasia occurring in a father and a child . 
 all the clinical and radiographic features , except that of the chest x - ray , were more prominent in the child than the father . 
 this supports the fact that ccd is transmitted by an autosomal - dominant mode of inheritance with high penetrance and variable expressivity . 
 it is sporadic in about 40% of cases . 
 each child of an individual with ccd has a 50% chance of in heriting the mutation.conclusion:diagnosis is mostly made on the basis of clinical and radiographic features . 
 molecular genetic testing such as sequence analysis or deletion analysis can be used in cleidocranial dysplasia . 
 some cases are diagnosed through incidental findings by physicians , treating patients for unrelated conditions . 
 treatment of these patients requires a multidisciplinary approach which includes orthopaedic and dental corrections along with management of any complications of cleidocranial dysplasia .