Apert's syndrome--a report of five cases.
This report presents five cases of Apert's syndrome with features of acrocephaly, characteristic face and complete syndactyly of the hand and foot with bony fusion. Three cases out of five showed preaxial polydactylies of the foot, considered to be one of the characteristic features of Carpenter's syndrome. In the remaining two cases, the first digital ray of the foot was broad and deformed. In addition one case had a postaxial polydactyly of the hand. Three cases showed severe deformity of the shoulder; two had dysplasia and one had synchondrosis of the glenohumeral joint. On the basis of our findings in this, we feel that there is much phenotypic overlap between Apert's and Carpenter's syndrome. A polydactylous presentation of the hand and foot can be found in not a few cases of Apert's syndrome and it is not always an exclusive feature of Carpenter's syndrome.
D000168:Acrocephalosyndactylia / Q000175:diagnosis*; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000601:surgery; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D011859:Radiography; D012785:Shoulder Joint / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000601:surgery; D013577:Syndrome; D014034:Toes / Q000002:abnormalities* / Q000000981:diagnostic imaging