apert syndrome ( acrocephalosyndactylia ) is a developmental malformation characterized by craniosynostosis , a cone - shaped calvarium ( acrocephaly ) , hypertelorism , midface hypoplasia , pseudo cleft - palate , a parrot beak - shaped nose , pharyngeal attenuation , and syndactyly of the hands and feet.1 - 3 the inheritance of apert s syndrome is autosomal dominant with the locus of a mutation of fgfr2 on chromosome 10q ( 10q2526 ) .
suture progenitor cells with fibroblast growth factor receptors ( fgfr2 ) that have undergone a mutation can not transduce signals from extracellular fibroblast growth factors ( fgfs ) .
therefore , these cells do not receive the signal to produce the necessary fibrous material essential for a normal calvarial suture.3 apert syndrome was first reported by wheaton in 1894 and french pediatrician eugene apert published a series of nine cases in 1906.1,4 most cases are sporadic , with an incidence of 1:160 000 ; however due to high infant mortality , the incidence in the general population is lower .
advanced male parental age has been consistently noted.5 during the course of the disease , growth and mental retardation can be observed.1,5 in apert cases , the spheno - occipital and spheno - ethmoidal synchondroses and the fronto - ethmoidal suture fuse early , resulting in a severely shortened posterior cranial base and a relatively short anterior cranial base with a resultant hypoplastic midface .
consistent with the observation of midface hypoplasia , the maxilla also exhibits a transverse deficiency.3 the most readily observed malocclusions are a severe maxillary anterior open bite and a severely crowded and retrusive maxillary arch due to the constricted secondary palate.3 the maxillary alveolar arch is v - shaped.6 due to the narrower maxillary arch , bilateral or unilateral posterior crossbite can be observed.4,7 impactions , severe crowding of developing teeth within the alveolus , delayed eruption , thick gingiva , and sometimes supernumerary teeth or congenitally missing teeth are the hall marks of maxillary dental development in apert patients.8 the nasopharyngeal and oropharyngeal attenuation cause apert s individuals to become mouth breathers with a resultant anterior open bite.3
a 16-day - old female infant was admitted to the department of orthodontics of selcuk university because of cleft palate . from her parents history
she was the second child from a normal mother s third pregnancy of a consanguineous marriage between cousins .
apert syndrome was diagnosed by dna analysis and physical examination in the medical faculty . during extraoral examination of the infant ,
whose appearance was noted with defects , it was observed that he displayed a cone - shaped calvarium , midface hypoplasia , hypertelorism , ocular proptosis , shallow orbits , down - slanting lateral canthi and palpebral fissures , a depressed nasal bridge , low - set ears , and syndactyly of the fingers and toes ( excluding the thumbs ) ( figures 1 , 2 , and 3 ) .
intraoral clinical examination revealed that upper and lower alveolar bases were normal , and a bifid uvula and secondary cleft palate ( figures 4 , and 5 ) were presented .
the maxillary impression was taken by using silicon - based impression material ( zhermack spa , badia polesine , italy ) and an orthodontic plaster model was obtained ( figures 4 , and 5 ) .
after the cleft was covered with the wax , the acrylic appliance was made ( figure 6 ) .
feeding the baby and orientating the growth was the goal of using this appliance for treatment.9 the appliance was worn on the patient , and the parents were instructed in full - time wear and cleaning procedures of the appliance .
the parents was also informed about feeding the baby in a vertical position , using a nipple with a small hole through which milk flow rate was in the form of intermittent drops ; therefore , the infants s perioral and buccal muscles would strengthen .
the baby was checked at intervals of six weeks for a period of six months ( figure 5 ) .
when the baby was eight months , an operation was done to correct anomalies in the skull .
a silicon - based impression material was preferred to make the maxillary impression easier . during the impression
the baby s head is tilted backwards by holding the left knee forward.9 it is postulated that mutation in the frfr2 gene has an effect on the mesenchymal development , which has an effect on tooth morphogenesis.10 many oral manifestations can be attributed to the presence of this mutation .
failure in the anteroposterior and downward growth of the maxilla causes the maxillary hypoplasia and a resultant contraction of nasopharyngeal airway.11 therefore , one should pay attention to obstructive sleep apne syndrome and premature death.1 in patients with apert syndrome , severe skeletal class iii open bite malocclusion can be observed due to the maxillary deficiency and the inclination of the upper jaw .
the infant is likely to suffer from oral hygiene problems during treatment . for the patient with apert syndrome ,
the new generation of electric tooth brushes and fluoride mouth rinses may make the task easier .
professional care -including frequent dental examinations , oral hygiene prophylaxis , fluoride treatments , and dental sealants- are very important.4 tosun and sener s study showed that apert syndrome was in parallel with g6pd deficiency.4 g6pd deficiency is an enzymatic hereditary disorder leading to hemolytic anemia as a result of red blood cell destruction .
the main problem in g6pd deficiency is that hemolysis can be precipitated by a number of factors , such as oxidant drugs , eating fava beans , or intercurrent infection .
drugs that may induce hemolysis include sulphonamides , chloramphenicol , aspirin , acetaminophen , penicillin , and streptomycin .
therefore , the dentist must avoid drugs that may potentially induce hemolysis as result of g6pd deficiency.4 a significant proportion of patients with apert syndrome has mental retardation .
in these patients , significant social problems , speech difficulties , and attention deficit are noted.1 in apert syndrome , definite diagnosis can be made by dna analysis .
crouzon syndrome -another craniosynostosis disorder- is the result of the same gene mutation occurring in different locations.1
orthodontists can achieve an improvement in the patient s appearance and function of dentoskeletal structures by a combined orthodontic and orthognathic surgical treatment plan .
 the purpose of this report is to present apert syndrome patient by highlighting craniofacial characteristics and orthodontic approach to treatment.the patient , a 16-day - old female and the second child of healthy parents , was admitted to our department with primary complaint of cleft palate . 
 she had a cone - shaped calvarium , midface hypoplasia , syndactyly of the hands and feet , hypertelorism , proptosis and cleft palate . 
 after taking maxillary impression , an acrylic appliance was applied to orientate the growing and enable the feeding.a case with apert syndrome undergoes the orthodontic treatment for a long time and also a multidisciplinary approach is essential to determine the best collaborative corrective plan for the deficiencies of the patient . 
INTRODUCTION
CASE REPORT
DISCUSSION
CONCLUSIONS