Techniques and results of palate fistula repair following palatoplasty: a 234-case multicenter study. / Técnicas y resultados de reparación de fístulas palatinas pospalatoplastia: estudio multicéntrico de 234 casos.

INTRODUCTION: Palate fistula is the most frequent complication following palatoplasty. The objectives of this study were: to describe the most widely used repair techniques; to study results and recurrence rate; to analyze potentially predictive recurrence variables; and to assess whether a specific technique is superior according to fistula size and location. MATERIALS AND METHODS: Retrospective study of patients undergoing palate fistula repair in 7 healthcare facilities from 2008 to 2018. All facilities had at least 20 new cases of cleft lift and palate annually (range: 20-80), with a fistula incidence of 14% (range: 1.5-20%). Minimum follow-up was 1 year. 8 variables were collected for statistical analysis purposes. RESULTS: 234 fistula patients underwent surgery. Most fistulas occurred in complete bilateral cleft lift and palate (Veau type IV). The most frequent location was the hard palate (Pittsburgh types IV and V (63.2%)), and fistulas were mostly large (42.1%) and medium (39.5%). The most frequent repair technique was re-palatoplasty (34.2%). Recurrence rate was 22%. The multivariate analysis demonstrated more recurrences in re-palatoplasty repaired type III fistulas in patients over 3 years old. CONCLUSION: A tendency towards using flap repair in large hard palate fistulas, re-palatoplasty in medium hard palate and soft and hard palate junction fistulas, and local flaps or re-palatoplasty in small fistulas at any location was observed. However, it could not be statistically demonstrated whether a specific repair technique was superior in different clinical situations.

INTRODUCCION: La fístula palatina es la complicación más frecuente tras una palatoplastia. Los objetivos de este estudio fueron: describir las técnicas de reparación más frecuentemente empleadas; estudiar los resultados y la tasa de recidiva; analizar posibles variables predictivas de recidiva y valorar la posible superioridad de una determinada técnica según el tamaño y la localización de la fístula. MATERIAL Y METODO: Estudio retrospectivo de pacientes operados de fístulas palatinas desde 2008 hasta 2018 en 7 centros. Todos operaban al menos 20 casos nuevos de fisuras labiopalatinas al año (rango 20-80) con una incidencia de fístulas de 14% (rango: 1,5-20%). El seguimiento mínimo fue de 1 año. Se recogieron 8 variables para el análisis estadístico. RESULTADOS: Se operaron 234 pacientes con fístulas. La mayoría ocurrieron en fisuras labiopalatinas bilateral completa (tipo IV de Veau). La localización más frecuente fue el paladar duro (tipos IV y V de Pittsburgh (63,2%) y la mayoría fueron grandes (42,1%) y medianas (39,5%). La técnica de reparación más frecuente fue la repalatoplastia (34,2%). La tasa de recidiva fue del 22%. El análisis multivariante mostró más recidivas en fístulas tipo III reparadas con repalatoplastia, en mayores de 3 años. CONCLUSION: Se observó una tendencia a utilizar más reparación con colgajo en fístulas grandes del paladar duro, repalatoplastia en fístulas medianas de paladar duro y de la unión, y colgajos locales o repalatoplastia en fístulas pequeñas en cualquier localización, pero no se pudo demostrar estadísticamente la superioridad de una técnica reparadora concreta en diferentes situaciones clínicas.

Review of the UCL management of patients with cleft lip and palate.

We describe the way our multidisciplinary team manages cleft lips and palates at our centre at the Catholic University of Louvain. Since 1987, we have opted for the neonatal repair of the cleft lip and nose, and closure of the cleft palate at three months of age. Multidisciplinary follow-up then takes place to detect and correct the sequellae. The children are seen once a year by a plastic surgeon, an otorhinolaryngologist, a maxillofacial surgeon, a speech therapist, an audiologist, and an orthodontist. Secondary corrections are scheduled depending on functional, aesthetic, and psychological requirements.

Orofacial clefting: update on the role of genetics.

INTRODUCTION: Cleft lip with or without cleft palate (CL/P) is one of the most common birth defects in the world. Prevalence varies between populations, with an average of 1/700. CL/P has a major clinical impact, requiring surgical, dental, orthodontic, speech, hearing and psychological management throughout childhood. The aetiology of CL/P is mostly unknown, and it is thought that both genetic and environmental factors play a role. Several causative genes for inherited syndromic forms of CL/P have been identified, and some recent studies have shown that these genes also contribute to the occurrence of isolated forms. Van der Woude syndrome (VWS) is one of the best models for non-syndromic CLP. It is an autosomal dominant disorder characterised by the presence of pits on the lower lip in addition to CL/P. Pits are the only feature distinguishing VWS from isolated clefts. Interestingly, in numerous VWS patients, the lip pits are very small and not readily diagnosed, thus mimicking isolated CL/P. Mutations in the IRF6 gene were shown to be the major genetic cause of VWS.' RESULTS: We performed direct sequence analysis of IRF6 on samples from a large European cohort and identified mutations in 27 (80%) families. This shows that IRF6 is the major causative gene of VWS in Europe also. Moreover, it is the gene to study when a seemingly isolated CL/P patient has minor signs, such as lip pits, since the identification of a mutation in IRF6 is associated with an increase in the risk of having a child with CL/P from 4-6%, the risk of transmission of an isolated cleft, to 50%, the risk of transmission of a dominant Mendelian disorder like VWS. Moreover, we studied the association of isolated CL/P with the IRF6 locus using two variants in a set of 195 patients from Belgium. As in an American study, a clear association was observed. This suggests that IRF6 also contributes to the occurrence of sporadic, isolated CL/P, even if no mutation in the gene can be identified in such patients. CONCLUSION: In conclusion, genes that are mutated in familial syndromic forms of CL/P may be predisposing genetic factors to sporadic isolated CL/P. Due to technological advances and the availability of the human genome sequence, we have now the opportunity to try and unravel the genetic factors behind the various forms of CL/P.

The Pierre Robin sequence: review of 125 cases and evolution of treatment modalities.

All children admitted to our hospital between 1964 and 1991 with a diagnosis of Pierre Robin sequence were divided into three groups according to the severity of their symptoms: group I: adequate respiration in prone position and bottle feeding; group II: adequate respiration in prone position but feeding difficulties requiring gavage; and group III: children with respiratory distress and endotracheal intubation and gavage. The presence of associated anomalies, prematurity, and psychomotor impairment was noted as well as the surgical interventions performed. We found 56 children (44.8 percent) in group I, 40 children (32 percent) in group II, and 29 children (23.2 percent) in group III. Seventeen children (13.6 percent) died: 1 of 56 in group I, 4 of 40 in group II, and 12 of 29 in group III. Among the 125 patients, 57 presented at least one associated anomaly other than a cleft palate and the Pierre Robin triad. Thirteen deaths were found in this group (13 of 57 = 22.8 percent). Ten children were premature (10 of 125), and 6 of the premature infants died (60 percent). Twenty-two children required at least one surgical procedure to relieve the upper airway obstruction. Among the 108 survivors in this study, 25 presented a psychomotor impairment (23.1 percent). The children admitted after 1986 were submitted to routine serial blood gases, oxygen saturation monitoring, and polysomnographic recordings. The therapeutic interventions were done earlier. Thirty-four children were followed after 1986: 14 in group I, 11 in group II, and 9 in group III.(ABSTRACT TRUNCATED AT 250 WORDS)

Total lower lip functional reconstruction with a prefabricated gracilis muscle free flap.

Total lower lip reconstruction was performed in an 18-month-old boy following a dog bite. In order to obtain an optimal functional result and to avoid any additional facial scarring, a prefabricated gracilis muscle free flap was used in a two-stage procedure. Firstly, the muscle was delayed on its main pedicle, a 'tendinous' strip was inserted along its free border and a silicone sheet was slid under its predicted intraoral side. At the time of reconstruction, the neomucosal lining obtained in this way reconstituted the labial vestibule. Furthermore, the muscle, reinnervated by the mandibular branch of the facial nerve, was also put under minimal tension and suspended between the two modioli using the 'tendon' graft. This allowed both lip occlusion and normal speech development to be restored without any impairment of mandibular growth during a 4-year follow-up.

[Functional results of velopharyngoplasty: apropos of 55 cases]. / Résultats fonctionnels de vélopharyngoplasties: à propos de 55 cas.

From 1991 until 1998, 55 three to twelve year-old patients underwent a velopharyngoplasty to correct velopharyngeal insufficiency. They had indeed severe hypernasality with or without gross reflux of food matter into the nasal cavities or behavioural disturbances. Eighty-two percent had a closed cleft palate. Forty percent presented with mental retardation, heart diseases or multiple syndromal defects. They all had had a previous speech therapy for a long (months) or a very long (years) period of time. In the post operative period, hypernasality disappeared totally or partially in eighty-five percent; reflux disappeared in almost all cases. Middle ear pathologies were not more frequent and were also less severe. Behavioral disturbances associated with a severe speech defect were also less pronounced.

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

Van der Woude syndrome (VWS), caused by dominant IRF6 mutation, is the most common cleft syndrome. In 15% of the patients, lip pits are absent and the phenotype mimics isolated clefts. Therefore, we hypothesized that some of the families classified as having non-syndromic inherited cleft lip and palate could have an IRF6 mutation. We screened in total 170 patients with cleft lip with or without cleft palate (CL/P): 75 were syndromic and 95 were a priori part of multiplex non-syndromic families. A mutation was identified in 62.7 and 3.3% of the patients, respectively. In one of the 95 a priori non-syndromic families with an autosomal dominant inheritance (family B), new insights into the family history revealed the presence, at birth, of lower lip pits in two members and the diagnosis was revised as VWS. A novel lower lip sign was observed in one individual in this family. Interestingly, a similar lower lip sign was also observed in one individual from a 2nd family (family A). This consists of 2 nodules below the lower lip on the external side. In a 3rd multiplex family (family C), a de novo mutation was identified in an a priori non-syndromic CL/P patient. Re-examination after mutation screening revealed the presence of a tiny pit-looking lesion on the inner side of the lower lip leading to a revised diagnosis of VWS. On the basis of this data, we conclude that IRF6 should be screened when any doubt rises about the normality of the lower lip and also if a non-syndromic cleft lip patient (with or without cleft palate) has a family history suggestive of autosomal dominant inheritance.

[Labial sequels after uni- and bilateral cleft lip repair]. / Les séquelles labiales dans les fentes uni- et bilatérales.

Children born with labial-alveolar-velopalatine clefts must be managed by multidisciplinary teams in order to decrease the frequency and the importance of sequels, by implementing a true therapeutic strategy. It is indeed easier to avoid a secondary deformation than to correct it. Labial sequels are often associated to nasal sequels, and are managed in a single surgical intervention, with total revision of the cheilorhinoplasty. Some less important labial deformities can be corrected without total and simultaneous revision of the lip-nose complex. The goal of correction is functional and aesthetic, and the choice of the moment depends mainly on the psychological impact of the deformation for the child, and his motivation for reoperation.

Pseudo-tumoral proliferative nodule in a giant congenital naevus.

OBJECTIVE: To discuss the characteristics of proliferative nodules in giant congenital naevi. METHODS: We report the case of a newborn referred for staged curettage of a giant congenital naevus. A nodule was discovered on his left flank. It was excised for analysis during the first treatment session during the second week of life. RESULTS: The nodule was soft and looked like a lipoma. On optical microscopy however, there was a high cellular density and a high number of mitoses. Although the genetic analysis for melanoma antigens was reassuring, a firm nodule recurred a few days later. A second excision was performed at the fourth week. Surprisingly, on optical microscopy, the cellular density was much lower and there were no more atypias or mitoses; many neurotization foci were present. The natural history changed to spontaneous regression of the cellular activity. The diagnosis of proliferative nodule was made. CONCLUSION: Proliferative nodules in giant congenital naevi have specific clinical and histological characteristics. These should however be put into perspective. As demonstrated in this case, there can be an initial high mitotic activity within the nodule but this should not lead to the misdiagnosis of malignant melanoma. The spontaneous regression of cellular activity will allow the correct diagnosis to be made.

The action of piracetam in ischaemic flaps.

The effects of piracetam on skin flap viability, capillary blood flow and temperature were studied in abdominal cutaneous flaps in rats. The drug significantly increased the viability of the distal (random) portion of the flap and this response was dose-related. Compared with controls, the area of skin necrosis was 12.4% less in the piracetam-treated animals and extended necrosis was not observed. Piracetam appeared to act by increasing the capillary blood flow, mainly in the distal portion of the flap. The improved perfusion was reflected as a smaller drop in the recorded temperature compared with controls. Blood levels of this drug in animals receiving the maximum effective dose corresponded to the active drug concentration in human rheology.

[Primary and secondary care of cleft lip and palate in the lip-palate center in Bruxelles]. / La prise en charge primaire et secondaire des fentes labio-palatines au centre labio-palatin de Bruxelles.

Since 1987, we chose a neonatal repair of the cleft lip and nose and closure of the cleft palate at 3 months of age. Ventilation tubes are systematically inserted in the drums at time of palatoplasty. Alveolar clefts are grafted when canine erupts. Secondary correction, which might be early, are scheduled according to functional, aesthetic or psychological demands. A interdisciplinary follow-up by a stable and united team is essential for an adequate management of sequels.

Neonatal cleft lip repair: the anesthesiologist's point of view.

Neonatal cleft lip repair is no longer an unusual procedure and several series have been published to date. We present our 3-year experience from the anesthesiologist's point of view. Preoperative evaluation, perioperative management, and postoperative problems are described. A thorough preoperative evaluation in order to exclude associated malformations (especially cardiac) and experience in neonatal anesthesia are essential for the sake of safety.