Congenital isolated bilateral macrostomia

M. Araceli Caballero Rabasco, Josefa Díaz, Esperanza Castejón, Laia Ymbert, M. Ángeles López-Vílchez, Antonio Mur

Research output: Contribution to journalArticleResearchpeer-review

Abstract

Introduction. Isolated bilateral macrostomia is one of the rarest malformations within the craniofacial defects, with a frequency of 0.3% of children with facial clefts. It is defined by the presence of an orofacial cleft between the upper and lower jawbone caused by an alteration of the first branchial arch. Its etiology is unknown but one of the most established theories is the error of fusion between upper and lower jaw during embryonic development. Usually it appears isolated, without being associated with other defects, in contrast to unilateral macrostomia, which most often presents in the context of a specific syndrome. Case report. We describe the case of a female newborn that presented a bilateral one-centimeter elongation of the mouth, showing a large opening without other associated external malformations. Imaging studies excluded internal malformations. The evolution was optimal in the neonatal period except for a weak suction in the first hours of life that gradually improved. Comments. In the presence of macrostomia, it is important to perform a thorough evaluation, including physical examination and imaging studies such as transfontanellar and abdominal ultrasound, echocardiography and skeletal series to evaluate for other abnormalities, especially in cases of unilateral presentation. Surgical treatment usually results in successful outcome with preservation of swallowing and phonation.
Original languageEnglish
Pages (from-to)75-77
JournalPediatria Catalana
Volume70
Issue number2
Publication statusPublished - 1 Apr 2010

Keywords

  • Macrostomia
  • Transversal facial cleft

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