Diagnosis and progress of a patient with type 1 acrocephalosyndactyly or Apert’s syndrome
Keywords:
ACROCEPHALOSYNDACTYLIA, CRANIOSYNOSTOSES, GENETICSAbstract
Apert’s syndrome is a rare genetic condition because of its small frequency and is characterized by congenital craniosynostosis, syndactyly of the hands and feet, several ankylosis and progressive synostosis of the hands, feet and spine, as well as several functional alterations that vary greatly from one patient to another. Its prevalence is estimated to be 1 in 65,000, approximately 15,5 per 1,000,000 live births. This study presents the case of a girl with the clinical characteristics of Apert’s syndrome, who was diagnosed before the year of age and who has been followed-up to the present. The patient was surgically operated on both hands three times due to bilateral syndactyly and has been rehabilitated with satisfactory results. At the age of seven she presented dental malocclusion and vision impairment. The patient is waiting for surgery on the feet due to syndactyly. She has difficulty walking and lack of balance.Downloads
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