The feet in Pfeiffer's syndrome.
Broad toes are the classic clinical finding occurring in the feet in Pfeiffer's syndrome patients, but few cases undergo formal radiological assessment. However, the feet in other craniosynostosis syndromes resulting from mutations of the fibroblast growth factor receptor 2 gene have anomalies at many other sites within the feet, which raised the possibility that there may also be a wider range of anomalies other than broad big toes in the feet of those with Pfeiffer's syndrome. The object of this study was to assess prospectively the incidence and pattern of clinical and radiographic anomalies of the feet of patients with a confirmed diagnosis of Pfeiffer's syndrome. Twenty-two Pfeiffer's syndrome patients were examined both clinically and radiologically for anomalies of the feet. Clinical examination revealed broad big toes in 12 patients and syndactyly in 2. Radiographs of the feet were evaluated by a radiologist with an interest in skeletal dysplasia as well as by members of the Craniofacial team. A wider range of radiological than clinical anomalies involving the phalanges, metatarsals, and tarsals was seen. The severity of the anomalies observed ranged from normal to those resembling the feet of Apert's syndrome patients. Only 4 patients had radiologically normal feet. These radiographic findings suggest that there is a range of foot anomalies more extensive than the broad big toes, which are classically associated with Pfeiffer's syndrome.
Anderson
P J
PJ
Craniofacial Centre, Great Ormond Street Hospital, London, United Kingdom.
Hall
C M
CM
Evans
R D
RD
Jones
B M
BM
Hayward
R D
RD
D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005529:Foot Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D015994:Incidence; D007223:Infant; D008297:Male; D009154:Mutation; D011446:Prospective Studies; D011859:Radiography; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D014034:Toes / Q000002:abnormalities
D017468:Receptors, Fibroblast Growth Factor