Apert's syndrome: (acrocephalosyndactylism).
A case history is presented that illustrates the clinical and radiographic findings of an Apert's syndrome patient. The incidence of this condition at birth is approximately 1:160,000 with a greater frequency found in the children of older parents. A brief comparison is made with two similar syndromes. Carpenter's syndrome and LMBB syndrome. Recognition and diagnosis of each syndrome is difficult due to the phenotypic overlap and is achieved through an understanding of the similarities as well as the difference. In the Apert's syndrome patient, the hand and foot deformities present particular problems regarding everyday performance. The hands of these patients are generally surgically corrected to improve hand function through removal of the syndactylism or partial amputation. However, this was not performed on this patient for he was able to write legibly and had good pincer grasping ability. The feet in the Apert's syndrome patient present unique problems due to the malformations that exist rather than acquired deformities because of excessive joint motion. The structure of the foot is generally compatible with conventional shoewear. If the patient's psychological status warrants it, elective surgical intervention would be indicated to remove hypertrophic bone at weight-bearing areas to relieve pressure.
D000015:Abnormalities, Multiple / Q000175:diagnosis; D000168:Acrocephalosyndactylia / Q000175:diagnosis*; D000293:Adolescent; D000328:Adult; D003398:Craniosynostoses / Q000175:diagnosis; D003937:Diagnosis, Differential; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005532:Foot Deformities, Congenital; D006801:Humans; D007849:Laurence-Moon Syndrome / Q000175:diagnosis; D008297:Male; D013576:Syndactyly / Q000175:diagnosis; D013577:Syndrome