Véronique Soupre

Arteriovenous malformations of the dental arcades the place of endovascular therapy: results in 12 cases are presented

Twelve arteriovenous malformations of the dental arcades (AVMDAs) (seven mandibular and five maxillary) were seen in our institution between 1977 and 1997. All these lesions consisted of true arteriovenous shunts (of either nidus or fistulous type) involving the bone, with or without soft tissue extension. Haemorrhage was present in eight patients (67%); either torrential, necessitating emergency embolization, or recurrent and progressive. Teeth instability was detected in all patients and was the origin of the bleeding. All lesions were embolized. Lesions in nine patients were embolized with Polyvinyl Alcohol Particles (PVA): this helped to stabilize the situation but could not avoid recurrences in all patients, necessitating complementary embolizations and or surgery. The use of acrylic glue (N-Butyl-Cyano-Acrylate [NBCA] Histoacryl) as the embolic agent has changed the results obtained tremendously. Eight patients have been treated with NBCA (five as complementary therapy to PVA during later sessions and three at the first attempt); injection either via the transarterial route or direct transcutaneous puncture (four patients) achieved a cure in four of these lesions (34%) with stability at long-term follow-up of all the other AVMs. Embolization with glue represents the therapy of choice in these sometimes life-threatening lesions, achieving a cure if directed towards the osseous venous lakes. Surgery, often leading to facial mutilation and necessitating massive reconstruction should be avoided nowadays, at least as the initial therapy.

Physiologic and Clinical Benefits of Noninvasive Ventilation in Infants With Pierre Robin Sequence

OBJECTIVE: The objective of the study was to determine the clinical and physiologic benefits of noninvasive respiratory support (NRS) (continuous positive airway pressure or noninvasive positive pressure ventilation) for infants with a Pierre Robin sequence (PRS). METHODS: Breathing patterns, respiratory efforts, and gas exchange were analyzed for 7 infants with a PRS during spontaneous breathing and during NRS. Clinical outcomes with duration of NRS and need for a tracheotomy and/or nutritional support was evaluated. RESULTS: Compared with spontaneous breathing, breathing patterns, respiratory efforts, and transcutaneous carbon dioxide pressures improved during NRS; the mean respiratory rate decreased from 55 ± 9 to 37 ± 7 breaths per minute (P = .063), the mean inspiratory time/total duty cycle decreased from 59 ± 9% to 40 ± 7% (P = .018), the mean esophageal pressure swing decreased from 29 ± 13 to 9 ± 4 cm H2O (P = .017), the diaphragmatic pressure-time product decreased from 844 ± 308 to 245 ± 126 cm H2O-second per minute (P = .018), and the mean transcutaneous carbon dioxide pressure during sleep decreased from 57 ± 7 to 31 ± 7 mm Hg (P = .043). All of the patients could be discharged successfully from the hospital with NRS. The mean duration of NRS was 16.7 ± 12.2 months. Six patients could be weaned from nutritional support, and none required a tracheotomy. CONCLUSIONS: NRS is able to improve breathing patterns and respiratory outcomes for infants with severe upper airway obstruction attributable to a PRS, which supports its use as a first-line treatment.

Neurophysiological brainstem investigations in isolated Pierre Robin sequence

Polysomnography, electromyography (EMG) of the face, tongue, and soft palate, blink reflexes (BRs), EMG during bottle-feeding, and brainstem auditory evoked responses (BAERs) were performed in 25 newborn babies with isolated Pierre Robin sequence (PRS) to aid in evaluation and management. Obstructive apneas were found in 23/24 patients (the 25th having undergone tracheotomy). Number and duration of central respiratory pauses were always normal, as well as electroencephalographic and clinical organization of sleep stages. EMG recruitment pattern in facial and lingual muscles, and BRs were normal in all cases. EMG recruitment pattern in muscles of the soft palate was normal in 14/25 patients, showed a reduced average amplitude with short-duration and low amplitude motor unit potentials in 10/25, and showed signs of denervation in 1/25. EMG during bottle-feeding showed sucking-swallowing disorders in 20/25 patients. BAERs showed a bilateral conductive impairment with increased latencies and thresholds in 5/19 patients, but with normal and symmetric I-III and I-V interpeak latencies in 19/19. These neurophysiological findings suggest that in isolated PRS a dysfunction of the lingual and pharyngeal motor organization exists without any structural impairment in brainstem nuclei and pathways.

Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P)

Cleft lip with or without cleft palate (CL/P) is one of the most common congenital malformations in humans occurring with a birth prevalence of approximately 1:1,000. CL/P may be part of a defined syndrome, sequence or association, although most individual or familial cases present as an isolated (nonsyndromic) malformation (NSCL/P). Inheritance is generally regarded as multigenic although, in some families, NSCL/P seemingly segregates as a monogenic trait. On the other hand, van der Woude syndrome (vWS) is a rare autosomal dominant with cardinal features of lower-lip pits (LLP) and CL/P or cleft palate (alone). Since none of these traits is present in all mutation carriers, some individual or familial vWS cases, especially those lacking LLP, are indiscernible from NSCL/P, raising the question whether allelic variation at the vWS locus could underlie NSCL/P. This question was addressed using parametric linkage (LOD score) analysis in 21 multiplex NSCL/P families based on a tightly linked microsatellite marker (D1S3753), and nonparametric analysis using the transmission/disequilibrium test (GTDT) in 106 NSCL/P triads and selecting markers D1S205, D1S491, and D1S3753. No evidence for linkage of NSCL/P to vWS was found on the 21 families using the LOD score approach. In contrast, TDT yielded a significant P value of 0.04 for D1S205, supporting involvement of vWS in NSCL/P in a complex, modifying/polygenic manner rather than as a monogenic/major disease locus.

Nasal tip haemangiomas: guidelines for an early surgical approach.

The treatment of Cyrano nose haemangioma (CNH) is difficult because of its location and possible complications: psychological impact, severe skin infiltration and consequences on nasal growth. We suggest that the best treatment for nasal tip haemangiomas is an early surgery to remove the affected tissues and preserve the anatomy. A total of 39 children (32 females and seven males) underwent early surgery for the treatment of CNH. Mean age was 35 months. Skin infiltration was present in 15 cases. Cartilage lack or distortion was observed in 29 cases. Each patient was evaluated for global cosmetic appearance, reduction in volume of the tumour, improvement of skin texture and quality of the scar. Multiple surgical procedures were performed in 14 cases. The average postoperative follow-up was 48 months. Patients with low-volume tumours had only one surgery, whereas patients with large tumours underwent a mean of 1.9 surgeries. In 29 cases, distortion or lack of cartilaginous structures required dissection and approximation of the alar cartilages in their anatomical position. We could identify three types of CNH that lead to three distinct surgical approaches: type A (mild cases) is characterised by no cutaneous involvement, no misalignment of the cartilages and mild nasal volume increase; type B (moderate cases) entails partial cutaneous infiltration, misalignment of the cartilages and moderate nasal volume increase; and type C (severe cases) is characterised by cutaneous infiltration, misalignment of the cartilages and severe nasal volume increase.

Distraction of grafted alveolar bone in cleft case using endosseous implant

OBJECTIVEnPresentation of a specific surgical technique of vertical alveolar ridge distraction performed on an alveolar bone graft 1 year after the primary grafting procedure designed to correct a labioalveolar cleft. The graft had not obtained the results desired and presented heavily scarred mucosal tissue.nnnTECHNIQUEnA dental implant placed within the graft once it has been entirely freed by osteotomies functions as an endless screw. To avoid vascular risk, the alveolar bone graft is detached as a whole along its total height. Consequently, no bone remains above it to provide support for a conventional alveolar distractor. An osteosynthetic miniplate, fastened in a horizontal position beneath the nasal mucosae above the graft, is used to replace the missing bony support and to stabilize the implant, which activates the distraction process.nnnPATIENTnThis study is based on our first clinical case with a follow-up of 18 months at present.nnnRESULTnA vertical displacement of the entire graft was achieved, including its attached mucosal layer, which repositioned both bone and mucosa on a far better level in the cleft area. Thus, a normal length of abutment was obtained permitting prosthetic rehabilitation based on the same endosseous implant, which was left in place within the graft.nnnCONCLUSIONnThis technique may prove particularly helpful in certain cases in which a primary alveolar bone grafting procedure has produced borderline results. In such cases, on the one hand, neither the reasonably satisfactory volume of the bone graft itself nor the poor quality of its scarred mucosal tissue argue in favor of a secondary grafting procedure. On the other hand, it is impossible to resort to currently available alveolar distracters since our choice of techniques leaves no bone support above the graft.

Assessment of p57(KIP2) gene mutation in Beckwith-Wiedemann syndrome.

Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder involving developmental anomalies, tissue and organ hyperplasia and an increased risk of embryonic tumours (most commonly Wilms’ tumour). This multigenic disorder is caused by dysregulation of the expression of imprinted genes in the 11p15 chromosomal region. It may involve paternal uniparental disomy (UPD), loss of imprinting of the IGF2 gene, maternal inherited translocations and trisomy with paternal duplication. Recently, a small proportion of BWS patients has been shown to have a mutation in the paternal imprinted p57KIP2 gene, which encodes a cyclin-dependent kinase inhibitor and negatively regulates cell proliferation. We screened for p57KIP2 gene mutations in 21 BWS patients with no 11p15 UPD in leucocyte DNA. All patients had a phenotype typical of BWS. We analysed the entire coding sequence of p57KIP2, including intron-exon boundaries, by direct sequencing of five PCR-amplified fragments. No mutation was found in the p57KIP2 gene. Our results are consistent with those of previous studies showing that mutation of p57KIP2 is infrequent in BWS. Thus, other mechanisms of p57KIP2 silencing (imprinting errors) and/or other 11p15 genes are probably involved in the pathogenesis of BWS.

Relational development in children with cleft lip and palate: influence of the waiting period prior to the first surgical intervention and parental psychological perceptions of the abnormality

BackgroundThe birth of a child with a cleft lip, whether or not in association with a cleft palate, is a traumatic event for parents. This prospective, multidisciplinary and multi-centre study aims to explore the perceptions and feelings of parents in the year following the birth of their child, and to analyse parent–child relationships. Four inclusion centres have been selected, differing as to the date of the first surgical intervention, between birth and six months. The aim is to compare results, also distinguishing the subgroups of parents who were given the diagnosis in utero and those who were not.Methods/DesignThe main hypothesis is that the longer the time-lapse before the first surgicalintervention, the more likely are the psychological perceptions of the parents to affect the harmonious development of their child. Parents and children are seen twice, when the child is 4 months (T0) and when the child is one year old (T1). At these two times, the psychological state of the child and his/her relational abilities are assessed by a specially trained professional, and self-administered questionnaires measuring factors liable to affect child–parent relationships are issued to the parents. The Alarme Détresse BéBé score for the child and the Parenting Stress Index score for the parents, measured when the child reaches one year, will be used as the main criteria to compare children with early surgery to children with late surgery, and those where the diagnosis was obtained prior to birth with those receiving it at birth.DiscussionThe mental and psychological dimensions relating to the abnormality and its correction will be analysed for the parents (the importance of prenatal diagnosis, relational development with the child, self-image, quality of life) and also, for the first time, for the child (distress, withdrawal). In an ethical perspective, the different time lapses until surgery in the different protocols and their effects will be analysed, so as to serve as a reference for improving the quality of information during the waiting period, and the quality of support provided for parents and children by the healthcare team before the first surgical intervention.Trial RegistrationClinicalTrials.gov Identifier: NCT00993993.

Du PELVIS au LUMBAR syndrome : à propos de 2 cas

INTRODUCTIONnThe association of a pelvic hemangioma and malformations in the pelvic region are described as SACRAL or PELVIS syndrome. More recently, the acronym of LUMBAR syndrome has been used to describe the association of lower-body hemangioma and other cutaneous defects, urogenital anomalies, ulceration, myelopathy, bony deformities, anorectal malformations, arterial anomalies, and renal anomalies. We report herein 2 representative cases.nnnPATIENTSnTwo girls presented with infantile hemangioma associated with genital malformation. One case was associated with spinal anomalies and the other one with the anus in the genital position.nnnCONCLUSIONnSegmented hemangiomas are commonly associated with extracutaneous abnormalities. By analogy with PHACE syndrome, PELVIS/SACRAL/LUMBAR syndromes describe the association of segmented hemangioma of the lower extremities associated with other trunk or lower-body malformations. The syndrome is often incomplete.

Craniofacial phenotype in the branchio-oculo-facial syndrome: four case reports

Branchio-oculo-facial syndrome represents a craniofacial disorder in which affected patients may develop a wide range of distinctive features that include cleft lip and/or palate, cervical aplastic skin defect, malformed pinna, and ocular anomalies. This study reports four new cases confirmed by the identification of mutations in the TFAP2A gene and describes in detail the findings in the craniofacial region. The four cases included two familial and two sporadic, and three have been followed since the birth. Two out of the four cases showed atypical features. One patient presented brainstem immaturity with dysregulation of sympathetic and parasympathetic systems, which have so far not been described in the literature and were associated with anxiety, panic attacks, and tiredness. Another patient had as an additional feature a hypoplastic thumb with distal implantation.