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Summary: Orofacial clefts are the most common congenital anomaly of the face, and they significantly affect appearance. The combined effects of demographics, psychology, neurophysiology, and cleft characteristics to explain satisfaction with appearance in young people with a cleft have not yet been comprehensively studied in an interdisciplinary manner. We found that interpersonal difficulties, age, and conscientiousness were significant explanatory factors for satisfaction with appearance (tinterpersonal difficulties = −3.022, p = 0.006; tage = −3.563, p = 0.016; tconscientiousness = 4.161, p = 0.003); the model explained 50% of variance in satisfaction with appearance (R2Adjusted = 0.504, Fvs. constant = 4.05, p = 0.00117). Furthermore, frontal alpha asymmetry was complexly intertwined with other variables, affecting the overall accuracy of the model, but explaining only 10.5% of variance in satisfaction with appearance when used as a factor alone. The results show that an interdisciplinary approach can substantially expand our understanding of the factors influencing self-perception in young people with orofacial clefts.

Pierre Robinova sekvenca je triada, ki jo sestavljajo mikro- in/ali retrognatija, glosoptoza in zapora zgornjih dihal, ki se ji v 90 % pridruži palatoshiza. Pri otrocih s Pierre Robinovo sekvenco sta glavni funkcionalni težavi obstrukcija zgornjih dihal in oteženo hranjenje, ki se kažeta z raznolikimi dihalnimi težavami in slabim pridobivanjem telesne mase. Pri večini bolnikov zadoščajo konzervativni ukrepi, v redkih primerih pa je potrebno kirurško zdravljenje, v najtežjih primerih pa traheotomija. Klinični oddelek za neonatologijo Pediatrične klinike UKC Ljubljana je za zdravljenje novorojenčkov s Pierre Robinovo sekvenco uvedel v slovenski prostor novo metodo, tj. vstavitev nosno-žrelnega tubusa. Ta premosti zaporo zgornjih dihal v višini korena jezika in je ob izmenični zamenjavi strani vstavitve skozi nosnici lahko nameščen daljše obdobje tudi v domačem okolju. Obravnava otrok s Pierre Robinovo sekvenco je multidisciplinarna. Pri obravnavi sodelujejo neonatolog, otorinolaringolog, maksilofacialni kirurg in pulmolog. Gastroenterolog, dietetik in genetik pa so vključeni po potrebi. Članek predstavi klinično sliko otrok s Pierre Robinovo sekvenco, metode zdravljenja in uradno klinično pot obravnave v Sloveniji.

Izhodišče. Kraniosinostoze so redke prirojene bolezni lobanje, ki nastanejo ob prezgodnji zakostenitvi enega ali več lobanjskih šivov. Ker možgani ne morejo več prosto rasti, pride do deformacij lobanje, ki lahko dolgoročno povzročijo znotrajlobanjsko hipertenzijo in kognitivni zaostanek. Preiskovanci in metode. V Enoti za otroško nevrokirurgijo UKC Ljubljana smo pregledali vse otroke, ki so bili od junija 2015 do septembra 2020 zdravljeni zaradi kraniosinostoze (N = 71; starost 12,8 let, obdobje spremljanja 2,7 let). Zbrali smo naslednje podatke: prizadet šiv, sindromska bolezen, hidrocefalus, Chiarijeva malformacija, povišan znotrajlobanjski tlak, starost ob operaciji, kirurška tehnika, potreba po več operacijah in zapleti kirurškega zdravljenja. Rezultati. Sagitalnih je bilo 54,9 %, 25,3 % metopičnih, 14 % koronarnih enostranskih, 1,4 % koronarnih obojestranskih in 1,4 % lambdoidnih enostranskih. V 2,8 % primerov je bilo prizadetih več lobanjskih šivov. Sindromskih primerov je bilo 7 %. Skupaj smo opravili 74 posegov: 40,5 % frontoorbitalno podaljšanje, 32,4 % biparietalno remodeliranje, 22,9 % remodeliranje celotnega svoda, 2,7 % posteriorno distrakcijo in 1,3 % posteriorno ekspanzijo. Zaključki. Zdravljenje kraniosinostoz zahteva multidisciplinarni nevrokirurški, maksilofacialni in oralnokirurški pristop ter posege plastične in rekonstruktivne kirurgije. Zdravljenje kraniosinostoz je izključno kirurško. Poseg ni potreben le v kozmetične namene, temveč predvsem zato, da možganom omogočimo normalno rast.

Background. Craniosynostosis is a group of rare congeni-tal diseases of the skull. They arise from premature ossification of one or more cranial sutures. This represents an obstruction to normal brain growth and leads to specific deformations of the skull, which may in the long term cause intracranial hypertension and cognitive delay. Materials and methods. All children treated for craniosyn-ostosis in the Paediatric Neurosurgery Unit of the University Medical Centre Ljubljana between June 2015 and September 2020 (N = 71; age 12.8 years; follow-up 2.7 years) were analyzed. The following data were recorded: affected suture, syndromic condition, hydrocephalus, Chiari malformation, raised intracranial pressure, age at surgery, surgical technique, need for multiple operations, and surgical complications. Results. Sagittal synostosis were present in 54.9 %, 25.3 % metopic, 14 % unicoronal, 1.4 % bicoronal and 1.4 % unilateral lambdoid. Multiple sutures were affected in 2.8 % of cases. Seven % were syndromic. Overall, 74 surgical procedures were performed: fronto-orbital advancement in 40.5 % of cases; biparietal remodelling in 32.4 %; total cranial vault remodelling in 22.9 %; posterior distraction in 2.7 %; posterior expansion in 1.3 %. Conclusions. The treat-ment of craniosynostosis is exclusively surgical and requires a multidisciplinary, neurosurgical, maxillofacial surgical and plastic and reconstructive surgical approach. Surgical treat-ment is performed not only for aesthetical purposes, but mainly to permit normal development of the brain.

Although the aetiology of non-syndromic orofacial clefts (nsOFCs) is usually multifactorial, syndromic OFCs (syOFCs) are often caused by single mutations in known genes. Some syndromes, e.g., Van der Woude syndrome (VWS1; VWS2) and X-linked cleft palate with or without ankyloglossia (CPX), show only minor clinical signs in addition to OFC and are sometimes difficult to differentiate from nsOFCs. We recruited 34 Slovenian multi-case families with apparent nsOFCs (isolated OFCs or OFCs with minor additional facial signs). First, we examined IRF6, GRHL3, and TBX22 by Sanger or whole exome sequencing to identify VWS and CPX families. Next, we examined 72 additional nsOFC genes in the remaining families. Variant validation and co-segregation analysis were performed for each identified variant using Sanger sequencing, real-time quantitative PCR and microarray-based comparative genomic hybridization. We identified six disease-causing variants (three novel) in IRF6, GRHL3, and TBX22 in 21% of families with apparent nsOFCs, suggesting that our sequencing approach is useful for distinguishing syOFCs from nsOFCs. The novel variants, a frameshift variant in exon 7 of IRF6, a splice-altering variant in GRHL3, and a deletion of the coding exons of TBX22, indicate VWS1, VWS2, and CPX, respectively. We also identified five rare variants in nsOFC genes in families without VWS or CPX, but they could not be conclusively linked to nsOFC.

Izhodišče: Orofacialni razcep je najpogostejša prirojena obrazna nepravilnost. Otroci z razcepi v orofacialnem področju imajo poleg težav z govorom tudi težave na področju hranjenja in požiranja. Raziskave kažejo, da so simptomi težav s hranjenjem precej raznoliki. V skrajnih primerih je potrebno uvesti nadomestne načine hranjenja. V Sloveniji še ni bila narejena raziskava o pojavljanju težav s hranjenjem pri otrocih z razcepi v orofacialnem področju. Metode: Ugotoviti smo želeli pogostost in vrsto težav s hranjenjem otrok z razcepi v orofacialnem področju, starih od pet mesecev do šest let. V ta namen smo izoblikovali anonimni vprašalnik za starše o vrsti orofacialnega razcepa, možnih otrokovih težavah pri hranjenju, požiranju in govoru ter pripomočkih za hranjenje. Vprašalnik je bil najprej pilotsko preizkušen pri starših otrok z orofacialnimi razcepi med kontrolnimi ambulantnimi pregledi, nato pa poslan 93 staršem otrok z orofacialnimi razcepi, rojenih v obdobju treh zaporednih let. Z opisno statistiko smo predstavili pogostnost pojavljanja težav ter analizirali dejavnike, ki so se pogosteje pojavljali pri otrocih s težavami pri hranjenju. Rezultati: Starši 58 otrok z orofacialnimi razcepi so izpolnili vprašalnik. Ugotovili smo, da je imelo skoraj tri četrtine otrok težave z vzpostavitvijo hranjenja takoj po rojstvu, kasneje so se težave s hranjenjem zmanjšale, vendar so bile v četrtini primerov še vedno prisotne do zaključenega kirurškega zdravljenja. Največ težav se je pojavljalo zaradi uhajanja hrane in pijače skozi nos, požiranja zraka pri hranjenju po steklenički in podaljšanega časa hranjenja. Otroci z razcepom neba z razcepom ustnice ali brez so imeli bistveno več težav s hranjenjem kot otroci samo z razcepom ustnice. Večina staršev je za hranjenje uporabljala prilagojeno stekleničko in je bila z uporabo zadovoljna. Več kot polovica staršev je izjavila, da so prejeli premalo informacij v zvezi s hranjenjem pred in takoj po rojstvu otroka. Zaključek: Kljub dobro organizirani multidisciplinarni skrbi za otroke z orofacialnimi razcepi v Sloveniji starši še vedno pogrešajo konkretna navodila o hranjenju otroka z orofacialnim razcepom, zaradi česar bo potrebno dodatno izobraziti predvsem medicinske sestre, ki delajo v porodnišnicah. Glede na visoke cene pripomočkov za hranjenje otrok z orofacialnimi razcepi bi bilo dobrodošlo, da bi kril stroške ZZZS.

Background: Craniosynostosis is a rare congenital disease of the skull. They arise when one or more cranial sutures ossify prematurely. This causes an obstruction to normal brain growth and leads to specific deformations of the skull, which may result in intracranial hypertension and cognitive delay. Materials and methods: We have retrospectively analysed all children treated at the Unit of paediatric neurosurgery of the University Medical Centre Ljubljana between June 2015 and September 2020. The following items have been recorded: affected suture, underlying syndromic condition, hydrocephalus, Chiari malformation, raised intracranial pressure, age at surgery, surgical technique, need for multiple operations and surgical complications. Results: During the study period, 71 children have been treated for craniosynostosis. The median postoperative follow-up was 31 months. There were: 54.9% sagittal, 25.3% metopic, 14.0% unicoronal, 1.4% bicoronal and 1.4% unilateral lambdoid craniosynostosis. Multiple sutures were affected in 2.8% cases. 7.0% of the cases were syndromic. Overall, 74 surgical procedures have been performed: frontoorbital advancement represented 40.5% of them; biparietal remodelling 32.4%: total cranial vault remodelling 22.9%; posterior distraction 2.7%; posterior expansion 1.3%. Median age at surgery was 12.8 months. Conclusions: The treatment of craniosynostosis is surgical and requires a multidisciplinary approach, with expertise in plastic and reconstructive surgery, maxillofacial surgery and neurosurgery. The aim of surgical treatment is to release the constrictive and deformative effect that the synostosis has on skull growth. This requires a remodelling of the neurocranium and, if necessary, of the viscerocranium. Beyond aesthetic purposes, the primary aim of surgical treatment is to permit a normal development of the brain.

In this article, our clinical experience with an external ear and periorbital region reconstruction with implant-supported craniofacial epitheses are described. According to our experience, this kind of facial reconstruction is simple and reliable

Background: Mucosal defects after resection of the malignant disease in oral cavity can be left to heal by secondary intention, covered with free skin grafts or covered with local, regional or microvascular flaps. Decision about reconstruction depends on the defect size, quality of surrounding tissues and the patient’s general health condition. The goal of reconstruction is to achieve elastic, soft and moist surrounding, which enables the functioning of the remaining structures in the oral cavity as well as a rapid functional and social rehabilitation. Methods: At the beginning of patient’s diagnostic workup, two pieces of clinically healthy buccal mucosa were harvested and transferred as free mucosal grafts under superficial temporal fascia. After three weeks, squamous carcinoma of the floor of the mouth was resected and mucosal defect was reconstructed with a prelaminated temporalis fascia microvascular flap. Results: Presented and discussed is a reconstruction of the oral mucosa defect rarely described in the literature. Conclusion: There is no ideal replacement for the oral mucosa. Scar as a result of healing by secondary intention prevents tongue mobility. The quantity of mucosa available for local flaps is limited. Oral cavity environment is not ideal for healing of split-thickness skin grafts and skin transferred into oral cavity is never accustomed to the local conditions. With buccal mucosa prelaminated temporal fascia, microvasculary transferred into the oral cavity, offers a valuable method of reconstruction of medium-size mucosal defects of the oral cavity in selected, motivated patients.

Background: Orientation in space is of cardinal importance in surgery. In presurgical preparation surgeons make use of various virtual three-dimensional simulations, and since the beginning of 1990’s physical 3-d models made by a rapid prototyping technique have been employed. Conclusions: At the Clinical Department of Oral and Maxillofacial Surgery of the University Medical Centre in Ljubljana physical threedimensional models have been used since the beginning of 2007. We have done 120 virtual and 45 physical models, for the most demanding traumatological and oncological reconstructions. In this article, two cases of their usage are introduced.

Background. In the past, fractures of the mandibular condylar process were treated almost exclusively conservatively at our institution, by means of a three week period of intermaxillary fixation (IMF), followed by excercises and a soft diet. In the last three years, we started treating these fractures surgically with increasing frequency by open reduction and internal fixation with mini plates and screws. Our goal was to determine the safety and efficiency of surgical treatment as the results of conservative treatment were often unsatisfactory.Patients and methods. So far, 34 patients with 36 extraarticular condyle fractures were treated surgically by a periauricular transparotid approach. The operative procedure is demanding. Namely, branches of the facial nerve have to be identified, dissected and retracted, in order to reach the fracture site. The fracture was reduced and fixed with one or two mini plates. Patients were carefully followed up and were asked to answer a survey paper, which was completed by 32 patients.Results. All of the patients were able to open their mouth immediately postoperatively. The postoperative IMF lasted 1 week at maximum and the facial symetry was achieved in all cases. Pre-traumatic occlusion was achieved in 31 out of 33 dentate patients (94%). Eight out of 36 cases (22%) had transitory weakness of the facial nerve branches, most often the buccal and zygomatic branch. Of these, 5 resolved completely at 2–8 weeks, while a mild degree of weakness is still present in the lower eyelid and half of the upper lip in a female patient, 13 months postoperatively. The cosmetic effect is good as the periauricular facelift incision leaves a barely perceptible scar. According to the postoperative survey completed by 32 patients, 30 of them (94%) were very satisfied with the outcome of treatment.Conclusion. The procedure is safe with a careful surgical technique and the results of operative treatment are excellent.

Background. Chronic unexplained orofacial pain is frequently the cause of prolonged suffering for the patient and an unsolvable problem for the therapist. Pathophysiology of the onset of this type of pain is virtually unknown. Still, it is possible to divide chronic orofacial pain into several separate categories, according to its onset, symptoms and therapy. All forms of this type of pain have a strong psychological component.Methods. A retrograde review was conducted, in which patients’ records, treated in 1994 for chronic unexplained orofacial pain, were followed through a 5 year period. The modalities of treatment then and at present were compared.Conclusions. Except for trigeminal neuralgia, where carbamazepine remains the first choice drug, treatment of chronic facial pain has changed considerably.