Apert syndrome: Cranial procedures and brain malformations in a series of patients.

BACKGROUND: Apert syndrome is one of the most severe craniofacial disorders. This study aims to describe the craniofacial surgeries and central nervous system malformations of a cohort of children with Apert syndrome treated in the past 20 years and to compare these data with previously published data. METHODS: Retrospective analysis of a series of patients with Apert syndrome treated between 1999 and 2019 in our hospital. Information was analyzed regarding craniofacial procedures, hydrocephalus and presence of shunts, Chiari malformation Type 1, and other brain malformations such as corpus callosum and septum pellucidum anomalies. RESULTS: Thirty-seven patients were studied. Ventriculoperitoneal shunt prevalence was 24.3%, and 8.1% of patients required decompressive surgery for Chiari malformation. All of them needed at least one cranial vault remodeling procedure. The median age for this procedure was 8 months. In 69.7% of patients, the first cranial vault intervention was performed in the fronto-orbital region. In 36.4% of patients, a midface advancement had been performed at the time of this review, although this proportion was very dependent on the follow-up period and the age of the patients. The median age for the midface advancement procedure was 5.25 years. Anomalies of the corpus callosum and the septum pellucidum were reported in 43.2% and 59.5% of patients, respectively. CONCLUSION: Apert syndrome is a type of syndromic craniosynostosis, and patients usually require one or more cranial and facial surgeries. In comparison with other syndromic craniosynostosis types, Apert syndrome less frequently requires a VP shunt or treatment for a Chiari malformation.

Tumor-induced rickets in a child with a central giant cell granuloma: a case report.

Tumor-induced osteomalacia/rickets is a rare paraneoplastic disorder associated with a tumor-producing fibroblast growth factor 23 (FGF23). We present a child with symptoms of rickets as the first clinical sign of a central giant cell granuloma (CGCG) with high serum levels of FGF23, a hormone associated with decreased phosphate resorption. A 3-year-old boy presented with a limp and 6 months later with painless growth of the jaw. On examination gingival hypertrophy and genu varum were observed. Investigations revealed hypophosphatemia, normal 1,25 and 25 (OH) vitamin D, and high alkaline phosphatase. An MRI showed an osteolytic lesion of the maxilla. Radiographs revealed typical rachitic findings. Incisional biopsy of the tumor revealed a CGCG with mesenchymal matrix. The CGCG was initially treated with calcitonin, but the lesions continued to grow, making it necessary to perform tracheostomy and gastrostomy. One year after onset the hyperphosphaturia worsened, necessitating increasing oral phosphate supplements up to 100 mg/kg per day of elemental phosphorus. FGF23 levels were extremely high. Total removal of the tumor was impossible, and partial reduction was achieved after percutaneous computed tomography-guided radiofrequency, local instillation of triamcinolone, and oral propranolol. Compassionate use of cinacalcet was unsuccessful in preventing phosphaturia. The tumor slowly regressed after the third year of disease; phosphaturia improved, allowing the tapering of phosphate supplements, and FGF23 levels normalized. Tumor-induced osteomalacia/rickets is uncommon in children and is challenging for physicians to diagnose. It should be suspected in patients with intractable osteomalacia or rickets. A tumor should be ruled out if FGF23 levels are high.

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.

Craniosynostosis, caused by the premature fusion of one or more of the cranial sutures, can be classified into non-syndromic or syndromic and by which sutures are affected. Clinical assignment is a difficult challenge due to the high phenotypic variability observed between syndromes. During routine diagnostics, we screened 182 Spanish craniosynostosis probands, implementing a four-tiered cascade screening of FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1. A total of 43 variants, eight novel, were identified in 113 (62%) patients: 104 (92%) detected in level 1; eight (7%) in level 2 and one (1%) in level 3. We subsequently screened additional genes in the probands with no detected mutation: one duplication of the IHH regulatory region was identified in a patient with craniosynostosis Philadelphia type and five variants, four novel, were identified in the recently described TCF12, in probands with coronal or multisuture affectation. In the 19 Saethre-Chotzen syndrome (SCS) individuals in whom a variant was detected, 15 (79%) carried a TWIST1 variant, whereas four (21%) had a TCF12 variant. Thus, we propose that TCF12 screening should be included for TWIST1 negative SCS patients and in patients where the coronal suture is affected. In summary, a molecular diagnosis was obtained in a total of 119/182 patients (65%), allowing the correct craniosynostosis syndrome classification, aiding genetic counselling and in some cases provided a better planning on how and when surgical intervention should take place and, subsequently the appropriate clinical follow up.

Tissue-engineered oral mucosa for mucosal reconstruction in a pediatric patient with hemifacial microsomia and ankyloglossia.

Many types of soft tissue grafts have been used for the reconstruction of oral mucosal defects. The best results are achieved with mucosal grafts; however, when large areas must be grafted, sufficient donor tissue is not available. Tissue engineering represents an alternative method to obtain sufficient autologous tissue for reconstructing oral wounds. Herein we present a pediatric patient with hemifacial microsomia and congenital ankyloglossia requiring multiple surgical interventions, and in which an autologous full-thickness tissue-engineered oral mucosa was used for successful oral reconstruction. Our study demonstrates that even under challenging conditions, robust tissue-engineered products, such as the fibrin-based oral mucosa described here, can achieve successful tissue regeneration.

Orthopedic and orthodontic treatment in central giant cell granuloma treated with calcitonin.

Central giant cell granuloma of the jaw is a benign lesion of unknown etiology that occurs with very low frequency. It mainly occurs in children and young adults and is more common in the mandible. The most common treatment is surgical removal; however, alternative therapies (intralesional injections of corticosteroids, interferon alpha, and calcitonin) have been used in order to avoid undesirable damage to the jaws and teeth. The lesion may cause root resorption, tooth germ displacement, and other dental problems, as well as malocclusion that must be treated orthodontically. The orthodontic, orthopedic, and calcitonin-based treatments of one of these cases is presented.

Dental management of oral self-mutilation in neurological patients: a case of congenital insensitivity to pain with anhidrosis.

Hereditary sensory and autonomic neuropathy type IV is a rare disease characterized by fever episodes, mental retardation of different intensity, recurrent episodes of fever secondary to anhidrosis, little or no perspiration and congenital insensitivity to pain. Oral self-mutilation is also a characteristic sign. In this article, we present the case of an infant, aged 22 months, who showed these clinical characteristics and was treated with a dental device to prevent the patient from injuring her tongue. This device consisted of two acrylic splints joined at the back in the posterior sector, it provided an anterior open bite and allowed the infant to breathe through her mouth. The lesions of the patient had improved after using the device but the patient died due to the medical problem. Neuropathies treatment is a great challenge for medical teams. Dentists should form part ot these teams because of the bucal implications that may appear. Different appliances can be designed in order to solve the special problems each case may present.

Dental management of oral self-mutilation in neurological patients: A case of congenital insensitivity to pain with anhidrosis

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Hereditary sensory and autonomic neuropathy type IV is a rare disease characterized by fever episodes, mentalretardation of different intensity, recurrent episodes of fever secondary to anhidrosis, little or no perspiration and congenital insensitivity to pain. Oral self-mutilation is also a characteristic sign.In this article, we present the case of an infant, aged 22 months, who showed these clinical characteristics and was treated with a dental device to prevent the patient from injuring her tongue. This device consisted of two acrylicsplints joined at the back in the posterior sector, it provided an anterior open bite and allowed the infant to breathe through her mouth.The lesions of the patient had improved after using the device but the patient died due to the medical problem.Neuropathies treatment is a great challenge for medical teams.Dentists should form part ot these teams because ofthe bucal implications that may appear. Different appliances can be designed in order to solve the special problems each case may present

Pediatric facial fractures: children are not just small adults.

Radiologic imaging is essential for diagnosing pediatric facial fractures and selecting the optimal therapeutic approach. Trauma-induced maxillofacial injuries in children may affect functioning as well as esthetic appearance, and they must be diagnosed promptly and accurately and managed appropriately to avoid disturbances of future growth and development. However, these fractures may be difficult to detect on images, and they are frequently underreported. The interpretation of facial radiographs is particularly challenging, and computed tomography (CT) is necessary in many cases to achieve an accurate diagnosis. To keep the radiation dose as low as reasonably achievable, ultrasonography may be used instead of radiography for the initial imaging evaluation when the clinical suspicion of fracture is low; if evidence of fracture is found, CT then may be performed for a more detailed evaluation. Regardless of the modality used, a familiarity with the characteristic imaging features of pediatric facial fractures is necessary for accurate image interpretation. In addition, knowledge of the epidemiologic and anatomic distribution of pediatric facial fractures is helpful. Particular kinds of fracture (nondisplaced, greenstick, displaced, comminuted) tend to occur at specific anatomic sites in children, with the severity and extent of the fracture varying according to the patient's age and the stage of skeletal development. Midfacial fractures and fractures that are severely displaced and comminuted may be accompanied by neurocranial injuries or other complications and should be evaluated at CT with multiplanar reformatting of image data.

Buccal anomalies, cephalometric analysis and genetic study of two sisters with orofaciodigital syndrome type I.

Orofaciodigital syndromes have many clinical and cephalometric anomalies, including facial irregularities, oral cavity abnormalities, and malformations of fingers and toes. In this case of twin girls, buccal exploration, cephalometric examination, and genetic analysis were performed to diagnose Orofaciodigital I or Orofaciodigital II syndrome. Clinically, the twins had several dental and skeletal irregularities. Genetic analysis revealed a DNA segment abnormality corresponding to exon 3 and presence of nucleotide change, 243C>G, leading to the missense mutation H81Q. This causative mutation associated with the OFD1 gene has not been reported previously. Both patients were diagnosed as having Orofaciodigital I syndrome.

Treatment of an infant with a rare cleft resolved with use of an orthopedic appliance.

OBJECTIVE: Cases of bilateral complete clefts of the primary palate and unaffected secondary palate are very rare. One of these cases as well as a new method of presurgical orthopedics to solve the protruding premaxilla protrusion is presented.