Publications by authors named "Ana Rita de Luna Freire Peixoto"
Introduction: Pitt-Hopkins syndrome (PTHS) is a rare genetic syndrome associated with neurodevelopmental disorders and craniofacial dysmorphisms caused by variations in the TCF4 transition factor. The aim of this article was to report the case of two twin infants diagnosed with PTHS, confirmed by the identification of a heterozygous pathogenic variant in the TCF4 gene through DNA extracted from a buccal swab.
Case Presentation: Both infants presented with craniofacial asymmetry with a metopic crest and cranial deformity.
Objective: Evaluate treatment of patients with bilateral cleft lip operated during the last 10 years, using the methodology of Mortier and Anastassov.
Methods: A total of 84 patients were evaluated using a preoperative score assessing fissure severity and a postsurgical score assessing of uncorrected or secondary deformities. A pre- and postcorrelation analysis was performed to evaluate the gain and identify the main postoperative alterations, using Spearman's statistical test (P < 0.