Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness.

We report the case of a 7-month-old girl with atypical oculo-facio-cardio-dental syndrome (OFCD). A novel de novo pathogenic mutation in the BCL6 interacting co-repressor gene (BCOR) (c.4540C>T; p.Arg1514*), was identified on the X chromosome. This case expands the phenotype of OFCD as it is the first report of a case presenting with craniosynostois, temporal hypertrichosis, supraorbital grooving, and underdevelopment of the midface.

Surgical management of an odontogenic cutaneous fistula.

A patient presented to our unit with a long history of a discharging skin infection on his left cheek, which came and went. He had been seen by numerous healthcare practitioners including his general practitioner, general dental practitioner and dermatologist, with no resolution. He was eventually diagnosed with an odontogenic cutaneous fistula (OCF), for which he underwent surgical management. The purpose of the study is to describe the diagnosis and surgical management of an OCF, from initial assessment through to postoperative review and discharge. Following surgical management of the OCF and treatment of the source of infection by dental extraction, the patient is no longer experiencing purulent discharge through his left cheek. The extraoral skin site of drainage at his left cheek has resolved completely, with minimal residual scarring. OCF can be managed by a number of different treatment modalities. The treatment of an OCF by surgical excision is presented.

FACE-Q Craniofacial Module: Part 1 validation of CLEFT-Q scales for use in children and young adults with facial conditions.

BACKGROUND: The CLEFT-Q includes 12 independently functioning scales that measure appearance (face, nose, nostrils, teeth, lips, jaws), health-related quality of life (psychological, social, school, speech distress), and speech function, and an eating/drinking checklist. Previous qualitative research revealed that the CLEFT-Q has content validity in noncleft craniofacial conditions. This study aimed to examine the psychometric performance of the CLEFT-Q in an international sample of patients with a broad range of facial conditions. METHODS: Data were collected between October 2016 and December 2019 from 2132 patients aged 8 to 29 years with noncleft facial conditions. Rasch measurement theory (RMT) analysis was used to examine Differential Item Function (DIF) by comparing the original CLEFT-Q sample and the new FACE-Q craniofacial sample. Reliability and validity of the scales in a combined cleft and craniofacial sample (n=4743) were examined. RESULTS: DIF was found for 23 CLEFT-Q items when the datasets for the two samples were compared. When items with DIF were split by sample, correlations between the original and split person locations showed that DIF had negligible impact on scale scoring (correlations ≥0.995). In the combined sample, RMT analysis led to the retention of original content for ten CLEFT-Q scales, modification of the Teeth scale, and the addition of an Eating/Drinking scale. Data obtained fit with the Rasch model for 11 scales (exception School, p=0.04). Person Separation Index and Cronbach alpha values met the criteria. CONCLUSION: The scales described in this study can be used to measure outcomes in children and young adults with cleft and noncleft craniofacial conditions.

Possible toxicity following embolization of congenital giant vertex hemangioma: case report.

The authors describe the case of a 3-year-old boy with a giant congenital vertex hemangioma who underwent presurgical embolization with Onyx (ethylene-vinyl alcohol copolymer dissolved in dimethyl sulfoxide) and Glubran ( N-butyl-2-cyanoacrylate). This vascular tumor had no intracranial vascular communication as assessed by pre-embolization MRI and catheter angiography. All embolizations were performed by direct percutaneous injection. One week following the last embolization procedure the child presented with a 24-hour history of ataxia and extrapyramidal tremor. He was diagnosed with a possible immune-mediated reaction to Onyx or Glubran, which was treated with an urgent surgical excision of the hemangioma followed by intravenous administration of immunoglobulin and steroids. To the authors' knowledge, this is the first case of possible immune-mediated toxicity secondary to either Onyx or Glubran administration. This case highlights the need for awareness of potential toxic reactions to these embolic agents in the treatment of hemangiomas in the pediatric patient.

Bisphosphonates and avascular necrosis of the mandible: case report and review of the literature.

BACKGROUND: Avascular necrosis of the mandible or maxilla is being recognized with increasing frequency in patients who are being treated with bisphosphonates for metastatic cancers. METHODS AND RESULTS: A patient who was treated for avascular necrosis following treatment with bisphosphonates for multiple myeloma is presented. CONCLUSION: Prophylactic and preventative measures should be instituted prior to commencing treatment with bisphosphonates to minimize the risk of developing avascular necrosis.

A cephalometric analysis of maxillary and mandibular parameters in Treacher Collins syndrome.

BACKGROUND: Treacher Collins syndrome is an autosomal dominant condition of varying severity, affecting the tissues of the first and second branchial arches. The aim of this article is to present a cephalometric analysis of the craniofacial skeleton in Treacher Collins syndrome and provide an age- and sex-matched comparison as a standard control sample. METHODS: Twenty-four Treacher Collins syndrome patients (11 male patients and 13 female patients; mean age, 17.99 +/- 1.96 years) underwent cephalometric studies, including orthopantomography and lateral and anteroposterior cephalography, as part of their preparation for bimaxillary surgery. Cephalometric parameters assessing the relationships of the skull base, maxilla, and mandible were analyzed and compared with age- and sex-matched control data (mean age, 17.75 +/- 1.95 years). RESULTS: Cephalometric analysis before orthognathic surgery documented that the Treacher Collins syndrome mandible and midface are expectedly short in the anteroposterior plane; however, the ratio of maxillomandibular deficiency is particularly significant in the female patient. The mandibular plane angle is obtuse, affecting female patients in particular, in whom there is also a posteriorly placed chin point. Affected individuals have a high antegonial notch height. Although the parameters of anterior lower facial height proportion in control and syndrome individuals are similar, posterior face height in Treacher Collins syndrome is reduced. CONCLUSIONS: This study quantifies the cephalometric dysmorphology of patients with Treacher Collins syndrome and compares it to that of age-matched controls. These cephalometric characteristics have clinical significance in Treacher Collins syndrome and in the planning of bimaxillary advancement and genioplasty in syndrome patients.

Functional outcomes and donor site morbidity following circumferential pharyngoesophageal reconstruction using an anterolateral thigh flap and salivary bypass tube.

BACKGROUND: This study reports our experience with fasciocutaneous reconstruction of circumferential pharyngoesophageal defects using an anterolateral thigh flap wrapped around a salivary bypass tube. METHODS: The charts of 14 patients were reviewed. All patients who had reconstruction of a pharyngoesophageal defect using an anterolateral thigh flap with a salivary bypass tube between 2001 and 2005 were included. RESULTS: There were 10 men and 4 women (mean age, 61 years). There were no fistulae reported, and the stricture rate was 14%. Eleven patients achieved oral diet sufficient to have the gastrostomy or jejunal tube removed. The patients who had tracheoesophageal puncture for voice developed functional speech. There were no flap losses. However, problems with salivary tube migration in the early cases have led to technique refinement. CONCLUSIONS: The low complication rates and the excellent functional outcomes make the anterolateral thigh flap in combination with a salivary bypass tube a viable option for reconstruction of these difficult defects.