Apert’s syndrome

a case report

Abstract

OBJECTIVE: Apert Syndrome is an autosomal dominant disorder caracterized by mutation of the troglast FGFR2 receptor gene (locus 10q25-26). It is rare and have a frequency of 1/65000 births. Characterized by craniosynostosis, craniofacial deformities and symmetric syndactyly, it may be associated with other disorders, including respiratory and cardiovascular disease. CASE DESCRIPTION: DMN was born on 38 weeks, without intrauterine diagnosis, presenting syndactyly, craniosynostosis in clover, saddle nose, bilateral nasal cavity narrowing, exophthalmos and deep palate. He presented difficulty breathing and swallowing, was referred to ICU. At 45 days, he underwent a otorhinolaryngologic surgery to open piriformis. He underwent gastrostomy due to sucking difficulties and “choking”. At three months of age, he underwent craniotomy for cerebral decompression. In polysomnography, apnea index and severe hypopnoea are identified, and guedel pacifiers are prescribed to assist breathing. In July 2012 he underwent cardioplasty, esophagoplasty, gastroplasty, gastrostomy, correction of cochlear imperfection. CONCLUSION: Today, he is five years old, has already performed more than seven surgeries and is under multiprofessional supervision to overcome the difficulties imposed by the disease.