Speech Outcomes After Palatal Lengthening Via Double Opposing Buccinator Myomucosal Flaps.

BACKGROUND: Palatal lengthening is becoming a first-line treatment choice for cleft patients with velopharyngeal insufficiency (VPI). As cleft palate-related surgical outcomes are age dependent, speech outcomes may be similarly affected by patient age at the time of treatment. The primary goal of this study is to determine whether there are age-related speech outcome differences when double opposing buccinator myomucosal flaps are used as part of a palatal lengthening protocol and whether these outcome differences preclude utilization of this technique for specific patient age groups. METHODS: A retrospective study was performed on consecutive nonsyndromic patients with VPI who underwent treatment using double opposing buccinator myomucosal flaps at our hospital between 2014 and 2021. Patients who completed the 15-month follow-up were stratified by age. Group A aged between 2 and 7 years (n = 14), group B aged 8 and 18 years (n = 23), and group C aged older than 18 years (n = 25) were included. Standardized perceptual speech evaluations and nasopharyngoscopy were performed. Hypernasality, soft palate mobility, and lateral palatal wall mobility were assessed both preoperatively and at a 15-month postoperative interval. Complications were also recorded. The χ2 test was used for statistical comparison. RESULTS: All of the age-stratified patient groups in this study showed significant improvement in hypernasality, soft palate mobility, and lateral wall mobility (P < 0.01), with no statistically significant differences between the different patient age groups. Overall speech success was achieved in 69.4% of patients. Patients in group A achieved 78.6% speech success, patients in group B achieved 78.3% speech success, and patients in group C achieved 56% speech success, with no statistically significant differences being shown regarding speech success between the different patient age groups (P > 0.05). CONCLUSIONS: Regardless of age, palatal lengthening via double opposing buccinator myomucosal flaps similarly improves speech outcomes.

Facial Fat Graft Injection Reduces Asymmetry and Improves Forehead Contour in Early Infancy Apert Syndrome Patients.

BACKGROUND: The objective of this study is to report the outcomes of a modified comprehensive Apert syndrome surgical protocol in which fat injection was performed during early infancy concurrent with postposterior vault distraction osteogenesis (PVDO) distractor removal. METHODS: A retrospective study was performed on 40 consecutive young patients with Apert syndrome who underwent PVDO and subsequent distractor removal between 2012 and 2022. Of these 40 patients, 12 patients underwent facial fat injection concurrent with distractor removal to treat residual supraorbital bar recession as part of a modified comprehensive Apert syndrome surgical protocol. Preoperative and postoperative severity of recession and irregularity was graded from 1 to 3, with 1 being less severe and 3 being the most severe. Recession severity was correlated with the number and type of suture fusion. The complication rate was stratified via a Clavien-Dindo scale. RESULTS: The average patient age was 14.3±5 months, with 5 males (41.6%) and 7 females (48.3%). The average hospital stay was 1.08 days. The average volume of free fat graft injection was 8.29±5 mL. According to the Likert scale, forehead morphology improved in 91.67% of the patients. Complete resolution of supraorbital bar recession was achieved in seven patients (58.33%), all of whom presenting a single suture synostosis. One patient with a cloverleaf skull presented a type IIIB complication. CONCLUSIONS: Facial fat grafting markedly reduces forehead asymmetry and improves forehead contour in Apert syndrome patients following PVDO. Total resolution of forehead recession directly correlated with a single suture fusion.

Apert Syndrome Type III Hand: Prevalence and Outcomes.

BACKGROUND: The Upton type III hand, which represents the most severe hand type among Apert syndrome patients, has been considered the least prevalent hand type. The objective of this study is to address type III Apert hand prevalence and describe treatment strategies that will result in a 5 digit hand. METHODS: The authors retrospectively reviewed 15 years of Apert syndrome hand practice at our hospital. Demographic (patient sex and age at the time of the operation), surgical (eg, techniques used for webspace release, osteotomy, and various aspects of soft-tissue reconstruction), and outcome (perioperative and long-term complication and need for revision operation) data was verified through medical records, clinical photographs, radiographic images, and interviews with patients' families. Patients who had incomplete medical records and/or postoperative follow up <6 months in length were excluded from this study. RESULTS: A total of 93 Apert patients [50 male (56.1%) and 43 female (43.9%)] were treated at our hospital from 2007 to 2021. Stratification of Apert hand severity using Upton's classification system identified 34 patients with type I hands (36.4%), 19 patients with type II hands (20.6%), and 40 patients with type III hands (43%). Of the 40 patients with type III hands a 5 digit hand was achieved for 35 patients (87%), with an average of 3.37 operations per patient. CONCLUSIONS: The Upton type III hand is the most prevalent hand type among Apert syndrome patients. Following a three stage protocol, a surgical team can consistently achieve a 5 digit hand for the majority of Apert syndrome patients with type III hands.

Behavioral, Learning Skills, and Visual Improvement in Crouzon Syndrome Patient Following Late Posterior Vault Distraction Osteogenesis.

BACKGROUND: It is well accepted among craniofacial surgeons that surgery does not improve mental status but does prevent worsening or deterioration of cognitive and mental function. In this report, we describe significant improvement in behavioral, learning skills and visual acuity for a Crouzon patient who underwent late posteriorvault distraction osteogenesis. METHODS: A 9-year-old Crouzon patient was referred to our hospital, presenting severe intracranial hypertension. The patient had previously undergone a strip craniectomy in early infancy at another medical institution, but there was no subsequent follow-up. Magnetic resonance imaging showed Chiari type I malformation and fundoscopy revealed papilledema. At the time of referral, the patient was not attending a regular school, had not acquired reading skills, was unable to concentrate, and could not accomplish school-related tasks that were standard for children in his age group. RESULTS: The patient underwent posterior vault distraction osteogenesis and showed concentration improvement and acquisition of fluent reading skills. Chiari type I malformation resolved as well as papilledema. visual acuity improved at Snellen test preoperatively from 20/200 to 20/60 at postoperative test. Ventricle size remained unchanged subsequent to performance of the posterior cranial vault distraction. The occipital veins were less visible upon clinical examination and less pronounced when palpated, and the bruit had completely disappeared. CONCLUSION: Late posterior vault distraction osteogenesis can improve behavioral, learning skills and visual acuity as shown in this 9-year-old Crouzon patient.

Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.

Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are rare, autosomal recessive disorders of the connective tissue caused by mutations in the gene encoding the anthrax toxin receptor 2 protein (ANTXR2) located on chromosome 4q21. Characteristically, these conditions present with overlapping clinical features, such as nodules and/or pearly papules, gingival hyperplasia, flexion contractures of the joints, and osteolytic bone defects. The present report describes a pair of sibs and three other JHF/ISH patients whose diagnoses were based on typical clinical manifestations and confirmed by histopathologic analyses and/or molecular analysis. A comparison of ISH and JHF, additional thoughts about new terminology (hyaline fibromatosis syndrome) and a modified grading system are also included.

Aplasia cutis congenita: impact of early treatment on calvarial osteogenesis.

We describe an infant with severe aplasia cutis congenita of the scalp that was characterised by a full-thickness calvarial bone defect combined with the absence of dura mater complicated by sagittal sinus haemorrhage. The defect was successfully managed by closure with a local temporal flap combined with a periosteum patch to allow closure of the dura mater. Previously, conservative treatments failed to remedy unexpected, massive bleeding, which could potentially threaten a patient's life. We highlight the osteogenic potential of surgically manipulated dura mater in this patient who was managed early with a surgical approach.

Age at surgery significantly impacts the amount of orbital relapse following hypertelorbitism correction: a 30-year longitudinal study.

BACKGROUND: The aim of this study was to identify variables that affect orbital relapse after hypertelorbitism correction. METHODS: The authors retrospectively reviewed the medical records of patients who underwent hypertelorbitism correction at a single institution between 1975 and 2005. Bony interorbital distance was measured postoperatively and at long-term follow-up. Orbital relapse was defined as the difference between bony interorbital distance measurements at these time points. Patients were stratified into groups based on age at primary surgical correction (early, <8 years; late, ≥ 8 years), the severity of the initial deformity (moderate, bony interorbital distance ≤ 40 mm; severe, bony interorbital distance >40 mm), and the type of surgical technique used (facial bipartition versus box osteotomy). Differences in relapse between the stratified groups were analyzed using paired t tests. RESULTS: A total of 22 patients met inclusion criteria for this study. Patients who underwent surgery before 8 years of age had a significantly higher degree of orbital relapse compared with older patients (5.9 mm versus 1.8 mm; p = 0.0142). There was no significant difference in orbital relapse based on the severity of the deformity or the operative technique used. CONCLUSIONS: Surgical correction of hypertelorbitism in patients younger than 8 years leads to a significantly higher rate of bony interorbital distance relapse compared with patients who undergo surgery at an older age. Neither the initial degree of severity nor the type of surgical technique correlates with relapse. The authors therefore recommend that in the absence of urgent factors necessitating early intervention, hypertelorbitism correction should be performed after 8 years of age.