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pfeiffer syndrome ( ps ) is a rare autosomal dominant congenital disorder , originally described by pfeiffer in 1964 , and is characterized by an acrocephalic skull , regressed midface , syndactyly of hands and feet , and broad thumbs and big toes , with a wide range of variable severity ( 1 - 3 ) .
ps is known to be caused by mutations in exons iiia or iiic of the fibroblast growth factor receptor ( fgfr ) 2 or fgfr 1 gene ( 4 - 7 ) .
we report with a review of literature the first neonate in korea with ps who had bicoronal craniosynostosis , bilateral syndactyly of the fingers and toes , and broad thumbs and big toes .
a girl was delivered by spontaneous normal vaginal delivery at 38 weeks gestation after an unremarkable pregnancy .
she was 3.5 kg in weight ( 25 - 50 percentile ) , the head circumference was 33 cm ( 25 - 50 percentile ) , and the height at birth was 52 cm ( 25 - 50 percentile ) . her mother is a gravid 4 , para 3 , 40 yr - old korean woman .
the patient is the 2nd among 3 children and is the only affected child . upon birth ,
the infant demonstrated bilaterally fused coronal sutures , mild proptosis , and maxillary hypoplasia ( fig .
the soft tissues of her 2nd , 3rd and 4th fingers were fused bilaterally to the proximal portion of distal phalanx and her bilateral thumbs were broad and deviated radially ( fig .
computed tomogram ( ct ) and magnetic resonance imaging ( mri ) studies of the cranium revealed no other abnormalities except for the presence of craniosynostosis .
three - dimensional reconstruction ct showed 3-dimensional virtual images of the bilaterally fused coronal sutures ( fig .
2a ) but that the sagittal and lambdoid suture were open more than normal to compensate for the small intracranial space , and resulting overall in a brachycephalic head shape ( fig .
plain radiography of her hands and feet showed no bony fusion between the phalanges ( fig .
three - dimensional ct image of choanal air airway showed small and narrow airway of choanal space ( fig .
4 ) . she did not have any visceral abnormality upon ultrasonographic examination of the abdomen and heart .
the patient had a decompressive endoscopic tunnel craniectomy at 4 weeks of age , and is planned for second surgical correction of craniosynostosis , followed by additional correction procedure for the finger and craniofacial anomalies at a later date .
the exact incidence of ps is unknown , but is expected to be 1 in every 100,000 births in the western population , and approximately 60 cases to date have been reported in the past world - wide literature ( 8 , 9 ) .
however , it is rarer in asian population : only several cases were reported in japan ( 10 , 11 ) and no reports as yet in korea .
cohen ( 12 ) in 1993 classified this syndrome into 3 clinical subtypes and suggested that these subtypes might not be classified as separate entities , even though these classifications have important diagnostic and prognostic implications .
type 2 consists of a cloverleaf skull with pfeiffer hands and feet , together with ankylosis of the elbows .
3 ps , ocular proptosis is severe , and the anterior cranial base is markedly short .
early demise is characteristic of both types 2 and 3 , which to date has been reported to occur only as sporadic cases ( 7 , 9 ) .
clinical manifestations of this patient appeared to fit into subtype 1 according to cohen 's clinical classification of ps .
the etiology for this syndrome is autosomal dominant or fresh mutations in type i conditions , and sporadic in types ii and iii .
some cases are linked to mutations at the fgfr 1 gene at chromosome 8p11.22-p12 ( 4 ) .
mutations at the fgfr2 gene , which map at chromosome 10q25-q26 , have also been reported recently ( 9 ) .
these mutations are related to the old age of parents , especially the father , because these mutations are suspected to confer a selective advantage to survival of sperm ( 13 ) .
usually , the parents are not affected and the risk for future children of that couple is minimal .
the offspring of a patient with ps have a 50 - 60% chance of inheriting the syndrome due to the dominant characteristics of this gene .
ps may involve craniosynostosis that is most often of the coronal and lambdoid , and occasionally sagittal sutures . a severe form of craniosynostosis in the ps is kleebattschdel ( cloverleaf anomaly ) .
the abnormal skull shape could result in a small intracranial volume that increases intracranial pressure , which might be commonly presented as headaches or visual changes .
some children with ps may have only one or both mid - face problems and craniosynostosis .
the most common features of the face are regressed mid - face and shallow orbits , which may be present at birth but sometimes become more evident as the childhood progresses .
underdeveloped maxillary bone of the face results in very shallow orbits and exophthalmos or proptosis .
the shallow orbits and proptosis may lead to damage of the cornea from dryness , or exposure keratosis .
maxillary hypoplasia also results in a small larynx and pharynx behind the nose and mouth .
this restricts the passage of air into the trachea and lungs and causes respiratory distress , particularly at night when snoring and snuffling can interrupt sleep .
similarly , the passage of food is restricted , and regurgitation may result in aspiration of food into the lungs .
( 14 ) in 1990 described an infant with ps in whom the trachea showed replacement of the cartilaginous rings by a solid cartilaginous plate extending the full length of the trachea and beyond the carina resulting in tracheal stenosis .
some other features commonly seen in these patients are visual disturbances related to an imbalance of the muscle that move the eyes and hearing loss due to recurrent ear infections .
vallino - napoli ( 15 ) in 1996 reviewed the audiologic and otologic features of 9 patients with ps , ranging in age from 2 to 12 yr .
seven patients had conductive hearing loss and 1 had mixed loss ; none had purely sensorineural loss .
primary ct findings were stenosis and/or atresia of the external auditory canal , hypoplasia of the middle ear cavity , and an enlarged middle ear cavity .
( 3 ) reported upper airway compromise in three of four patients with ps type 2 , and five of seven patients with ps type 3 , and cited this as the cause of death in two cases .
mccarthy et al . ( 16 ) found upper airway anomalies in 5 of 15 patients with ps of unspecified severity , and these were the primary cause of death in two patients .
congenital anomalies of the upper airway are clearly an important cause of morbidity and mortality in ps type 2 and 3 but are rare in ps type 1 ( 14 ) .
the hands and feet in ps are involved to variable degree ( 17 - 19 ) .
. patient may have mild soft tissue webbing of syndactyly between the second , third , and fourth digits of either or both hands and feet .
the digits may be short and misshapen . whilst the fusion of the fingers and toes in apert syndrome always involves fusion of the soft tissues of the second , third and fourth digits ,
this manifestation is similar with ps , but often there is fusion of the bones as well as soft tissues in apert syndrome ( 17 ) .
other anomalies in ps could include a cleft palate , choanal atresia , tracheo- and broncho - malacia , cloverleaf skull , fused vertebrae , arnold - chiari malformation , hydrocephalus , and imperforate anus .
the above case presented by authors is in accordance with type 1 ps because the infant had a craniosynostosis only of bilateral coronal suture and demonstrated broad and radially deviated bilateral thumbs and big toes that are characteristic of ps , even though she also had syndactyly of the bilateral 2nd , 3rd and 4th fingers only with soft tissue webbing .
the diagnosis of the apert syndrome is appropriate rather than ps if a patient has broad thumbs and syndactyly with bony fusion ( 17 ) or syndactyly of the second , third and fourth web spaces ( 19 ) .
however , clinical differential diagnosis has been confusing until now in relation with genetic findings because pfeiffer mutation has been reported to occur in a patient with apert syndrome ( 20 ) , and identical mutations in the fgfr2 gene could cause both ps and crouzon syndrome phenotypes ( 21 ) as illustrated by the demonstration of both phenotypes of apert and of ps in experimental mice ( 22 ) .
some authors have attempted to revise the classification for apert , carpenter , crouzon , jackson - weiss , pfeiffer and saethre - chotzen syndromes on a genetic basis . because of widely intermingling of phenotypic expressions or genetic sharing of the same mutation , as yet there is no definite evidence that phenotypic expressions correlate accurately with genetic mutations ( 10 , 20 - 24 ) .
this is probably because the gene that controls these expressions has not been elucidated to date ( 25 ) .
the prognosis depends on the severity of associated anomalies , mainly the severity of the central nervous system compromise .
patients with types 2 and 3 usually expire early in infant or childhood even though some may survive with aggressive medical and surgical management ( 5 ) .
multiple staged surgeries are the general treatment plan for patients with ps . in the first year of life
it is preferred to release the synostotic sutures of the skull to allow adequate cranial volume and thus allowing for brain growth and expansion . in this patient
, we performed a decompressive endoscopic craniectomy at 4 weeks of age for decompression of the high intracranial pressure due to coronal synostosis and maxillary hypoplasia .
secondary decompressive skull remodeling is planned at 4 - 6 months of age , and additional skull expansion surgery would be repeated as the child grows to about 2 or 3 yr of age .
although significant malformation of the fingers and toes are present , usually these function adequately and do not require the surgical correction .
however , this patient had soft tissue webbing between the fingers and toes , and thus will require surgical dividing procedure after infancy for future active physical therapy .
mid - facial advancement may be performed in order to provide an adequate orbital volume and reduce the exophthalmos , and to correct the dental occlusion to achieve appropriate functional position , but these procedures are not common in patients with ps .
this patient also had severe choanal hypoplasia with respiratory distress from maxillary hypoplasia that will be corrected with mid - facial advancement at 5 - 6 yr of age .
pfeiffer syndrome is as rare as apert syndrome in the western population . 
 this condition is very rare in the asian population and has not been previously reported in korea . 
 the authors report with a review of literature the case of a newborn baby with pfeiffer syndrome , manifested by bicoronal craniosynostosis , broad thumbs , and big toes . 
 the infant also had bilateral syndactyly of the fingers and toes , mild proptosis , choanal hypoplasia and maxillary hypoplasia .