Search results for "Retrognathia"
showing 3 items of 3 documents
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome
2009
Rubinstein-Taybi syndrome (RTS) is characterized by mental retardation, broad thumbs and great toes and a recognizable craniofacial phenotype. Causative mutations have been described in the CREBBP and EP300 genes. Here we present a 19-year-old woman and an unrelated 3-year-old boy, both with broad thumbs and halluces, but with facial aspects distinct from those of typical RTS. The woman had a marked learning disability, but no mental retardation. We identified a de novo c.7100delC mutation in EP300 (which predicts p.P2366RfsX35) in the woman and an apparently de novo c.638delG mutation in the boy, which predicts p.G213EfsX6. Mutations in EP300 are a known but rare cause of RTS. Only five ot…
Immediate three-dimensional changes in the oropharynx after different mandibular advancements in counterclockwise rotation orthognathic planning
2021
Background A retrospective cohort study was performed to evaluate the immediate effect on the oropharynx dimensions from different mandibular advancements in patients undergone counterclockwise rotation (CCW) of the maxillomandibular complex. Material and Methods 138 CBCT images of patients, who had undergone orthognathic surgery, were identified from Dolphin Imaging archive according to pre- (T0) and post-operative (T1) times. Each pre-operative CBCT image was selected considering retrognathic mandible. Superimpositions of CBCT images were performed to measure mandibular advancement at B point in millimeters (mm) and divided into three groups: G1 ( 10 mm). For evaluating oropharynx dimensi…
Distraction osteogenesis in dog with a tooth-borne device: Histological and histomorphometric analysis.
2019
Background The distraction osteogenesis (DO) is the biological process of new bone formation between the surfaces of bone segments gradually separated by incremental traction. However, the lack of solid experimental studies using the tooth-borne distractor does not allow comparing this technique with the classical procedures. This study aimed to establish the effect of two different activation protocols in new bone formation, with a new intraoral tooth-borne device for dog mandibular distraction osteogenesis. Material and methods Nine beagle dogs were split into 3 similar groups, Group A the control, Group B subjected to two daily activations of 0.5 mm and Group C subjected to a single dail…