Cleft palate lateral synechia syndrome in two patients and literature review.

Cleft palate lateral synechia (CPLS) syndrome is an extremely rare congenital malformation syndrome of unknown origin, characterized by the association of cleft palate and one or more intraoral lateral synechiae (OMIM # 119550). Fewer than 20 cases have been described to date. The clinical and histological findings and results of genetic investigations for two additional cases of CPLS are presented herein, in order to better delineate this syndrome, within the context of the relevant literature. The first case presented with a U-shaped cleft palate, bilateral synechiae, and Pierre Robin sequence, requiring early sectioning of the synechiae because of severe feeding problems. The second case presented with a V-shaped cleft palate and a single synechia, running from the left border of the cleft to the floor of the mouth, and was without feeding difficulties. In both cases, histopathological examination of the synechiae revealed an aspect of mucous membranes macroscopically, while staining of sections indicated lymphocyte infiltrates and parakeratosis with stratified squamous epithelium, associated with vessel and connective tissue abnormalities. Sequencing of candidate genes did not identify a genetic cause. Accurate clinical descriptions, histopathological diagnosis, and genetic investigations of patients with synechiae are lacking in the literature. Better characterization of future cases of CPLS will give new insights into its developmental causes.

Speech outcome after intravelar veloplasty.

OBJECTIVE: Cleft lip and palate is the main craniofacial malformation in France. Many surgical techniques had been described to restore cleft palate. In this study, we evaluate phonation in a homogeneous series of patient with isolated unilateral non-syndromic cleft lip and palate before (and after) alveolar cleft closure, operated according to our surgical protocol. METHODS: We included retrospectively 71 patients with isolated non-syndromic unilateral cleft lip and palate (UCLP), operated in our department from 2009 to 2013. All patients underwent the same surgical protocol: modified Millard cheilorhinoplasty (from 5 to 9-month-old); direct hard palatal closure (from 12 to 20-month-old); alveolar cleft closure with cancellous iliac bone graft (from 4 to 6-year-old). The phonation and clinical statute were evaluated before and after alveolar cleft closure. Fistula rate and speech evaluation were recorded. RESULTS: The rate of oronasal fistula was 12.7%. About phonation, 76% and 86% of patients were competent or borderline competent respectively before and after gingivoperiostoplasty. CONCLUSION: This surgical protocol provided speech results in patients with isolated unilateral non-syndromic cleft lip and palate. The gingivoperiostoplasty improved the speech intelligibility.

The use of three-dimensional reconstructions of CT scans to evaluate anomalies of hyoid bone in Pierre Robin sequence: A retrospective study.

AIM: The aim of the study was to investigate hyoid bone anomalies in patients with Pierre Robin sequence (PRS) compared to the control group, using computed tomography (CT) examination and three-dimensional reconstruction of the hyoid bone and mandible. METHODS: A retrospective study was performed of patients between birth and 12 months old with isolated PRS (i-PRS) and syndromic PRS (ni-PRS), who had undergone CT examination, and whose results were compared to the control group of the same age. DICOM data was processed to highlight bone tissue. The mandible and hyoid bones were the main targets of the three-dimensional reconstruction. The study outcomes were the analysis of hyoid bone ossification, volume, and position (distance between hyoid and mandibular symphysis). Univariate and multivariate statistical analyses were performed with α=0.05 as level of significance. RESULTS: The study sample included 29 i-PRS and 21 ni-PRS patients, while 43 infants in the control group. Hyoid ossification was present in 26/50 (52%) PRS patients (14 i-PRS; 12 ni-PRS) but in 31/43 controls (72%). Statistical analysis showed that absence of hyoid ossification was significantly associated with the diagnosis of PRS (P<0.05). Only ni-PRS patients showed a significant reduction of the distance between hyoid and mandible compared to the control group (P<0.001). Hyoid volume was significantly lower only in the ni-PRS group than in controls (P<0.001). CONCLUSION: I-PRS and ni-PRS patients differ both etiologically and clinically. Ni-PRS patients confirmed their worst clinical condition than i-PRS with severe anomalies of hyoid development, helping for their ontogeny classification.

[Secondary nasal surgery with cleft palates]. / Les rhinoseptoplasties secondaires des fentes labiopalatines.

Residual nasal deformity in patients with cleft palate remains the main demand of these patients. Performing primary nasal surgery has significantly improved the results. However, it is still often necessary to improve the nasal morphology. Respect of tissues during primary surgery is essential and allows easier secondary corrections. Anatomical reconstruction greatly facilitates the treatment of secondary deformities. Do not hesitate in case of major labionasales sequelae, to make revision, according to the rules of primary surgery, of the entire lip and nose.

Gnathodiaphyseal dysplasia with a novel R597I mutation of ANO5: Mandibular reconstruction strategies.

Gnathodiaphyseal Dysplasia (GDD) is a rare, often misdiagnosed, autosomal-dominant disorder due to point mutations in the ANO5 gene. GDD combines craniofacial fibro-osseous lesions, dental loss and progressive curvature and cortical thickening of long bones and vertebra, causing pathological fractures. Diagnosis is based on bone pathology and mutation screening. Here we report three GDD cases within a single family with a novel ANO5 mutation: c.1790 G > T (p.Arg597Ile, i.e. R597I) on exon 16. Microsurgical mandibular reconstructions were performed in the three cases. We reviewed the literature on jaw reconstruction in this condition and discussed the challenges of craniofacial reconstruction in GDD due to the diffuse bone anomalies affecting potential flap donor zones and a specific risk for jawbone osteomyelitis.

Pierre Robin sequence: A comprehensive narrative review of the literature over time.

Pierre Robin syndrome (PRS) is characterized of a triad of clinical signs: micrognathia, glossoptosis and obstruction of the upper airways frequently associated with palatal cleft. It is a heterogenic pathological entity and it can be found as isolated disease (nsPRS) or in association with other syndromes (sPRS), with more pronounced symptoms and systemic involvement. This review aims to summarize the principal features of PRS, analysing the different aspects of the disease. Epidemiological data highlight incidence, severity and mortality of PRS; pathophysiological mechanism reports the etiology and pathogenesis of the disease distinguishing between isolated and syndromic form. Because of the clinical importance of PRS, it's fundamental to describe the features of the Robin sequence to clearly define its primary and secondary clinical signs useful to diagnosis. A complete evaluation of the syndrome allows choosing the most appropriate therapeutic treatment, opting for conservative or surgical management, in order to improve the quality of life of the patient.

Arterial Spin-Labeling to Discriminate Pediatric Cervicofacial Soft-Tissue Vascular Anomalies.

BACKGROUND AND PURPOSE: Differentiating major subtypes of cervicofacial vascular lesions is crucial for appropriate management. The aim of our study was to evaluate the performance of an MR imaging arterial spin-labeling perfusion sequence in discriminating pediatric cervicofacial soft-tissue vascular anomalies. MATERIALS AND METHODS: We conducted a retrospective analysis of data from a prospectively maintained registry including pediatric patients at a tertiary pediatric center between January 2012 and January 2014. We included pediatric patients with a final diagnosis of soft-tissue vascular anomalies and an MR imaging, including an arterial spin-labeling sequence at presentation. We performed an analysis of lesion perfusion, blinded to clinical data, by using concurrent spiral 3D pseudocontinuous arterial spin-labeling (1.5T magnet; spiral matrix, 512 × 8 mm; postlabeling delay, 1025 ms). Lesional flow was recorded with calibrated intralesional ROIs. Perfusion characteristics were compared among lesion subtypes with the Mood Median test. RESULTS: Among 840 patients screened, 46 matched the inclusion criteria and were included (median age, 1.45 years; interquartile range, 0.4-5.1 years; 27 females). Hemangiomas, including infantile hemangiomas (n = 18 patients) and noninvoluting (n = 2) and rapidly involuting (n = 1) congenital types, demonstrated marked hyperperfusion (median flow, 436 mL/min/100 g; interquartile range, 212.5-603 mL/min/100 g), significantly higher than that of lymphatic malformations (median, 22.5 mL/min/100 g; interquartile range, 16-60 mL/min/100 g; P < .001) or venous malformations (median, 25 mL/min/100 g; interquartile range, 15-66.5 mL/min/100 g; P = .003). CONCLUSIONS: MR imaging arterial spin-labeling is a valuable tool for the assessment of soft-tissue vascular anomaly hemodynamics and for the classification of major lesion subtypes.

[Facial trauma and injury in children]. / Plaies et traumatismes de la face de l'enfant.

Facial traumas are common in children but often unconsidered. Facial injury is responsible of impressive bleeding because of the rich vascularization of the face; this bleeding is often underestimated because of the immediate arterial vasoconstriction that is very strong for children. The blood volume is 80ml/kg for a newborn, with a total of 250ml, reaching 70ml/kg at one year of age. The evaluation must be rigorously performed due to the risk of a sudden decompensation. Regarding the wounds, the primary repair must be performed directly neat or optimal in case of damaged tissues. The rule is to keep maximum of the integrity and to limit debridement. Careful repair often requires general anesthesia, especially in young children, to facilitate a perfect joining of the edges and of the mucocutaneous lines. Losses of substance should be treated by directed cicatrization. Flaps are never performed in children as a first intention for reasons developed below. Given the elasticity of the facial skeleton, fractures require a brutal shock to occur, but the clinical signs can be misleading. For instance, too specific and sometimes ignored, fractures can show weakly symptomatic signs : the fractures of the condylar and the orbital floor, with their respective complication that are temporomandibular bone ankylosis and definitive diplopia. Possible children abuse should be suspected in case of different age lesions and discrepancies between the told story and types of injuries. Once the vital urgency is eliminated, the orbital emergency should be first considered in facial traumas within the ophthalmology specialty because wounds and contusions of the globe are often under-evaluated and threaten the vision. The second emergency is the orbital floor fracture in its 'trapdoor' type, specific to the child. Combined with a motionless eye and uncontrollable vomiting, this is the second true urgency because it involves the prognosis of the oculomotricity and requires emergency surgery. Finally, dental trauma should not be overlooked because of their functional and aesthetic consequences. Primary cicatrization is usually rapid but scars remain inflammatory during a long time. The risk of hypertrophy exists in case of contusions and lacerations associated with wounds but also during puberty and in some locations. Age interfere with the result because growth will either improve or worsen the initial result, depending on the location and mechanism. The secondary specialized and prolonged managing and monitoring is capital on the functional, aesthetic and psychological points of view.

Intraosseous haemangioma: semantic and medical confusion.

The literature is rich in case reports of intraosseous haemangioma, although most of these are actually cases of venous or capillary malformations. To illustrate this confusion in terminology, we present three cases of slow-flow vascular malformations misnamed as intraosseous haemangioma. A retrospective study of children diagnosed with intraosseous haemangioma was conducted. Clinical and radiological data were evaluated. Histopathological examinations and immunohistochemical studies were redone by three independent pathologists to classify the lesions according to the International Society for the Study of Vascular Anomalies (ISSVA) and World Health Organization (WHO) classifications. Three children who had presented with jaw haemangiomas were identified. Computed tomography scan patterns were not specific. All tumours were GLUT-1-negative and D2-40-negative. The lesions were classified as central haemangiomas according to the WHO, and as slow-flow malformations according to the ISSVA. The classification of vascular anomalies is based on clinical, radiological, and histological differences between vascular tumours and malformations. Based on this classification, the evolution of the lesion can be predicted and adequate treatment applied. The binary ISSVA classification is widely accepted and should be applied for all vascular lesions.

[Wiedemann-Beckwith syndrome: a new approach for reduction glossoplasty using Ultracision(®)]. / Syndrome de Wiedemann-Beckwith - glossectomie de réduction par Ultracision(®) : une approche novatrice.

INTRODUCTION: A reduction glossectomy may be complicated by tongue and mouth floor edema and extend the recovery time for a normal tongue function. We performed reduction glossectomy using Ultracision(®), an ultrasonic vibrating device, so as to limit these complications. TECHNICAL NOTE: We performed a keyhole glossoplasty under general anesthesia. The initial tongue incision was performed with a cold scalpel, then the glossectomy was continued with Ultracision(®) only. We also used CURVED SHEARS(®). We evaluated our preliminary results with 3 patients presenting with Wiedemann-Beckwith syndrome. CONCLUSION: Ultracision(®) is a useful tool for intra-oral surgery, and should soon be more frequently used. It is an alternative to electrocautery for this type of surgery.

[Prenatal diagnosis of cleft lip with or without cleft palate: retrospective study and review]. / Diagnostic anténatal des fentes labiales avec ou sans fente palatine : étude rétrospective et revue de la littérature.

OBJECTIVES: To evaluate the management of prenatally diagnosed cleft lip with or without cleft palate and the immediate postnatal outcome. MATERIAL AND METHODS: Retrospective study of all cases of cleft lip with or without cleft palate referred to our fetal medicine unit, between January 2005 and January 2011. The anatomical type of cleft, associated malformations, and the postnatal outcome were reviewed. RESULTS: Forty-three cases of fetal cleft lip with or without cleft palate were reviewed. The mean gestational age at diagnosis was 24 weeks ± 4. The postnatal distribution of clefts was: 30 cleft lip and palate (70%) and 13 cleft lip (30%). The prenatal diagnosis of the cleft type was exact in 27 cases (62.8%). Nine cases had associated anomalies (21%), detected prenatally in three cases (37.5%). There was no karyotypical abnormality. Six pregnancies were terminated (14%). The immediate postnatal outcome was comparable with unselected newborns. CONCLUSION: The prenatal diagnosis of cleft lip with or without cleft palate is correct, with two thirds of exact diagnoses. Large clefts palate are the best detected. Associated malformations cannot always be diagnosed by prenatal ultrasound, but have to be searched for because they modify the fetal outcome.

[PELVIS or LUMBAR syndrome: the same entity. Two case reports]. / Du PELVIS au LUMBAR syndrome : à propos de 2 cas.

INTRODUCTION: The 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. PATIENTS: Two 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. CONCLUSION: Segmented 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.

[The impact of cleft lip and palate on the parent-child relationships]. / L'impact des fentes labiopalatines sur les relations parents-enfant.

Cleft lips and palates (CLPs) are the most common human facial malformations. Depending on the ethnic and/or geographical origin of the studied populations, they can affect up to 1/500 newborns. The treatment of these patients is multidisciplinary because these malformations have not only aesthetic consequences but also functional consequences as the phonation, hearing, deglutition, mastication and ventilation are altered. These consequences can also be psychological since the building of the body image, the way others perceive it, is likely to be seriously altered. In Europe there are over 210 reference hospitals for children affected by CLP. Besides, about 190 different protocols were identified. So far no generic protocol was recognized by the medical community as a whole. This discrepancy can be explained by the fact that the aesthetic and functional result of a protocol cannot be accurately assessed before adulthood when the child's growth is complete. Patients presenting with CLP don't usually seem to present with any serious psychological or psychiatric pathology. Yet a close review of the related literature shows that disorders are actually described: behavioural troubles, anxiety, depression and esthetic dissatisfaction with one's face in children as well as in adults. The difficulty in interpreting these disorders lies in the various factors that are likely to impact this condition (family setting, importance and type of the cleft, surgery protocol, growth, social environment). A multidisciplinary examination of the face and a careful consideration of concerned families show the importance of the psychological context and the risks of a dis-harmonious structuring of the parents-child relationships on the child's development. The identification of the difficulties faced by these families, depending on the child's age, can be easily identified. Of course they can be identified at birth when the family first sees the child and later on at each stage of the child's life cycle (when starting at kindergarten where the child socializes for the very first time, at the start of the first year in primary school where pupils learn how to read and then at the start of secondary school which is yet another crucial step for the child due to the adolescence period). It is also obvious that an adult affected by CLP has a particularly heavy medical history as the patient had to go through various treatments and surgical interventions during his childhood and adolescence, which is even sometimes maintained at adulthood. Repeated appointments with the different specialists involved in their treatment punctuate their life as well as their parents'. This medico-surgical setting for facial malformations i.e. the features of the patient's face which are largely involved in their interpersonal relationships and the expression of emotions can have serious consequences. Most children presenting with CLPs and living in France benefit from regular follow-up schemes carried out in competent reference centres by a multidisciplinary team whose members represent each of the fields of expertise involved in the correction of this malformation: infantile and maxillofacial surgery, otorhinolaryngology (or ENT), ortho-phony and dentofacial orthopedics. Only the two French reference centres benefit from the permanent presence of a psychologist. This raises the question whether every care centre should take into care these children and their parents' mental health by offering psychological support during the course of the therapeutic follow-up scheme for these children, and this from an early age on as is recommended by the American Cleft Palate Craniofacial Association.

[Z-plasty low tension]. / Plasties en Z basse tension.

Performing a conventional Z-plasty on postburn scar tissue frequently leads to varying degrees of necrosis of the tips of the transposed flaps. In the conventional technique, the flaps are transposed first by anchoring the tips and then by performing the other sutures. In this order, the tips are subjected to a high degree of tension. Again, according to the conventional technique, perpendicular incisions are performed along the tips, which do not ensure the effective vascularisation of the tips in this context of postburn scarring tissue with loss of dermal blood flow. Two technical modifications are proposed: a different approach to the tension by first of all anchoring the base of the flaps and not by classical first suturing of the tips and the performance of oblique incisions away from the tips to ensure a maximum vascularisation of the subdermal fatty tissue. These two elements have allowed us to improve the results of our plasties.

Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature.

OBJECTIVE: Prenatal Binder profile is a well known clinical phenotype, defined by a flat profile without nasal eminence, contrasting with nasal bones of normal length. Binder profile results of a hypoplasia of the nasal pyramid (sometimes referred to as maxillonasal dysplasia). We report 8 fetuses prenatally diagnosed as Binder phenotype, and discuss their postnatal diagnoses. METHODS: Ultrasonographic detailed measurements in 2D and 3D were done on the 8 fetuses with Binder profile, and were compared with postnatal phenotype. RESULTS: All fetuses have an association of verticalized nasal bones, abnormal convexity of the maxilla, and some degree of chondrodysplasia punctata. The final diagnoses included fetal warfarin syndrome (one patient), infantile sialic acid storage (one patient), probable Keutel syndrome (one patient), and five unclassifiable types of chondrodysplasia punctata. CONCLUSION: This series demonstrates the heterogeneity of prenatally diagnosed Binder phenotype, and the presence of chondrodysplasia punctata in all cases. An anomaly of vitamin K metabolism, possibly due to environmental factors, is suspected in these mild chondrodysplasia punctata. We recommend considering early prophylactic vitamin K supplementation in every suspected acquired vitamin K deficiency including incoercible vomiting of the pregnancy.