Management of infants with Pierre Robin sequence

Pierre Robin sequence is a congenital disorder classically characterized by retrognathia, glossoptosis and upper airway obstruction with or without cleft palate. This condition affects neonates and can cause serious respiratory and feeding difficulties requiring prompt intervention. Currently there are no standardized management algorithms for neonates with Pierre Robin sequence and management of the condition remains a challenge. Assuring adequate breathing and feeding should always be the first point of concern. Early diagnosis, sequential planning of treatment, adequate monitoring and multidisciplinary approach are essential for infants referred with Pierre Robin sequence. We discuss here the full scope of the disease and the various management options

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

Hydrosurgery, a new therapeutic perspective in early care of giant congenital nevi: A preliminary series of four cases

Summary Background: Congenital melanocytic nevi are present at birth or may appear in the first weeks of life. Small and medium-size lesions are relatively common, affecting approximately 1% of newborns; large or giant melanocytic nevi occur in 1/20,000e1/500,000 births. The main concern raised by these lesions is their potential risk of degeneration which is strongly size-dependent and estimated in the literature between 0% and 40% over a lifetime. Although multiple treatment modalities have been described, to date there is no consensus regarding their optimal management. Patients and methods: Four neonates (three females and one male) presenting giant congenital nevi with a mean age 12 days (7e24 days) were referred to our Plastic Surgery department for treatment from 2012 to 2013. All patients underwent an alternative dermabrasion procedure with the innovative use of hydrosurgery. All procedures were performed under general anaesthesia by the same senior operator (Dr. B.Bayet). Results: The mean operating time was significantly reduced compared to conventional techniques. No complications were observed in the postoperative course. Good final results were obtained in three patients after a mean follow-up of respectively 11, 8 and 4 months. The first operated neonate showed a complete recurrence of pigmentation of the treated areas after 6 months. Conclusions: The need for early treatment in giant congenital nevi is admitted by all. Hydrosurgery is easy to use and allows to achieve a selective and symmetric resection with an obvious cleavage plane and clean-cut borders. Furthermore, this procedure has convinced us with its speed of use, ensuring significant time saving, and therefore less morbidity for the neonate. Aesthetic results as well as recurrence rate may be comparable to conventional techniques. However, regular follow-up to detect any malignancy is necessary

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

Unmasking Familial CPX by WES and Identification of Novel Clinical Signs

Mutations in the T-Box transcription factor gene TBX22 are found in X-linked Cleft Palate with or without Ankyloglossia syndrome (CPX syndrome). In addition to X-linked inheritance, ankyloglossia, present in the majority of CPX patients, is an important diagnostic marker, but it is frequently missed or unreported, as it is a "minor" feature. Other described anomalies include cleft lip, micro and/or hypodontia, and features of CHARGE syndrome. We conducted whole exome sequencing (WES) on 22 individuals from 17 "a priori" non-syndromic cleft lip and/or cleft palate (CL/P) families. We filtered the data for heterozygous pathogenic variants within a set of predefined candidate genes. Two canonical splice-site mutations were found in TBX22. Detailed re-phenotyping of the two probands and their families unravelled orofacial features previously not associated with the CPX phenotypic spectrum: choanal atresia, Pierre-Robin sequence, and overgrowths on the posterior edge of the hard palate, on each side of the palatal midline. This study emphasizes the importance of WES analysis in familial CLP cases, combined with deep (reverse) phenotyping in "a priori" non-syndromic cleft

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

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.Depuis 1987, nous avons opté pour une correction précoce néonatale de la fente labio-narinaire et une fermeture de la division palatine à l’âge de trois mois. Des drains trans-tympaniques sont systématiquement placés lors de la palatoplastie. Les fentes alvéolaires sont comblées lors de l’éruption de la canine. Les corrections secondaires, qui peuvent être précoces, sont programmées en fonction des demandes fonctionnelles, esthétiques ou psychologiques. Un suivi interdisciplinaire par une équipe stable et soudée est essentiel pour une prise en charge correcte des séquelles