Acrocephalosyndactylism. A case presentation. 2012

Abstract

Introduction: the acrocephalosyndactilism or Apert syndrome is a genetic defect that is included within a wide group of cranioencephalic anomalies, specifically those that present craniosinostosis.
Case presentation: it is presented the case of a 10 month- old – low birth weight, hospitalized in the Respiratory service of the Paediatric Teaching Hospital ¨General Luis Milanes Tamayo¨ in the year 2012, with antecedents of a dystocic labour (triple), and rural origin. When he was born, he was hospitalized at Neonatology’s Service in the teaching, clinical, surgical hospital ¨Carlos Manuel de Cespedes¨ in Bayamo, with respiratory failure; he was genetically treated for malformations in the distal extremities, after the physical examination it was evidenced the syndactilism in the hands and feet; as well as a clearly marked irritability and exophthalmoses, those were characteristics of the disease, that is the reason why we concluded that our patient was a carrier of an Acrocephalosyndactilism or Type I Apert disease.
Discussion: apert syndrome is a pathology that takes part of the craniosynostosis, therefore, within the differential diagnosis there must be considered other syndromes like Cruson, Chotzen, Pfeiffer, Noack, Carpenter and Goodman´s.
Conclusion: we may say that the reviewed bibliography according to this genetic disease confirmed that the studied patient was a carrier of Acrocephalosyndactilism or type I Apert disease.