Micro-CT and high-field MRI for studying very early post-mortem human fetal anatomy at 8 weeks of gestation.

OBJECTIVE: This study involved very early post-mortem (PM) examination of human fetal anatomy at 8 weeks of gestation (WG) using whole-body multimodal micro-imaging: micro-CT and high-field MRI (HF-MRI). We discuss the potential place of this imaging in early first-trimester virtual autopsy. METHODS: We performed micro-CT after different contrast-bath protocols including diffusible iodine-based contrast-enhanced (dice) and HF-MRI with a 9.4 T machine with qualitative and quantitative evaluation and obtained histological sections. RESULTS: Nine fetuses were included: the crown-rump length was 10-24 mm and corresponded to 7 and 9 WG according to the Robinson formula. The Carnegie stages were 17-21. Dice micro-CT and HF-MRI presented high signal to noise ratio, >5, according to the Rose criterion, and for allowed anatomical phenotyping in these specimens. Imaging did not alter the histology, allowing immunostaining and pathological examination. CONCLUSION: PM non-destructive whole-body multimodal micro-imaging: dice micro-CT and HF-MRI allows for PM human fetal anatomy study as early as 8 WG. It paves the way to virtual autopsy in the very early first trimester. Obtaining a precision phenotype, even regarding miscarriage products, allows a reverse phenotyping to select variants of interest in genome-wide analysis, offering potential genetic counseling for bereaved parents.

Evaluation of breast skin and tissue stiffness using a non-invasive aspiration device and impact of clinical predictors.

A personalized 3D breast model could present a real benefit for preoperative discussion with patients, surgical planning, and guidance. Breast tissue biomechanical properties have been poorly studied in vivo, although they are important for breast deformation simulation. The main objective of our study was to determine breast skin thickness and breast skin and adipose/fibroglandular tissue stiffness. The secondary objective was to assess clinical predictors of elasticity and thickness: age, smoking status, body mass index, contraception, pregnancies, breastfeeding, menopausal status, history of radiotherapy or breast surgery. Participants were included at the Montpellier University Breast Surgery Department from March to May 2022. Breast skin thickness was measured by ultrasonography, breast skin and adipose/fibroglandular tissue stiffnesses were determined with a VLASTIC non-invasive aspiration device at three different sites (breast segments I-III). Multivariable linear models were used to assess clinical predictors of elasticity and thickness. In this cohort of 196 women, the mean breast skin and adipose/fibroglandular tissue stiffness values were 39 and 3 kPa, respectively. The mean breast skin thickness was 1.83 mm. Only menopausal status was significantly correlated with breast skin thickness and adipose/fibroglandular tissue stiffness. The next step will be to implement these stiffness and thickness values in a biomechanical breast model and to evaluate its capacity to predict breast tissue deformations.

Hypnosis as an alternative to general anaesthesia for paediatric superficial surgery: a randomised controlled trial.

BACKGROUND: Reducing perioperative anxiety and controlling pain in children are essential to optimise recovery and outcomes for both children and their parents. By acting on sensory and affective modulation of anxiety and pain, hypnosis is widely used in medical care, especially in anaesthesia. This randomised controlled clinical trial was designed to compare general anaesthesia and intraoperative hypnosis support for perioperative management of children undergoing superficial surgery. METHODS: Children aged 7-16 yr scheduled for day-case superficial surgery were included and randomly assigned to one of the following two groups: general anaesthesia group or hypnosis group. The primary outcome was length of hospital stay. Child and parent anxiety, child pain, and the occurrence of postoperative negative behavioural changes were also evaluated. RESULTS: Sixty children of mean age 10.3 (standard deviation: 2.6) yr were enrolled in the study. Hypnosis was successful in all but one case. The median (25th-75th percentile) length of hospital stay was shorter in the hypnosis group (120 [95-145] vs 240.5 [218-275] min; P<0.001). The general anaesthesia group was associated with a greater incidence of high levels of preoperative anxiety in children (30 vs 11%; P=0.001) and parents (55 vs 30%; P=0.05). Pain scores did not differ between groups. No negative postoperative behavioural changes were reported. CONCLUSIONS: In children aged 7-16 yr, hypnosis appears to be feasible and accepted. The quality of the perioperative experience and the rapid recovery support the use of hypnosis as an effective and safe alternative to general anaesthesia for paediatric superficial surgery. CLINICAL TRIAL REGISTRATION: NCT02505880.

Evaluation of Alveolar Bone Reconstruction In Clefts With Early Or Late Secondary Bone Grafting: Use Of The 3d Kamperos score.

There is still no consensus on the optimal age for alveolar grafting. In order to decide on the success of this graft, the best known radiographic assessments lacks precision. Kamperos recently proposed a 3D CBCT score that simultaneously assesses alveolar bone height and thickness, as well as the nasal floor level. The aim of this study was to apply this new score and compare it between an early secondary alveolar grafting « ESAG ¼ (4-7 y) and a late secondary alveolar grafting « LSAG ¼ (8-11 y) surgery group. A total of 32 cases of ESAG and 17 of LSAG were analysed. On 3D imaging, the median age of ESAGs was 10 years and 15 years for LSAGs. In the ESAGs, 78% of the permanents canines were not on the arch compared to 18% in the LSAGs. In both groups, the reconstruction of the nasal floor was very adequate but the height and thickness appeared less good in the ESAGs. The final score was higher in LSAG (Chi2, P < 0.005). The analysis of the alveolar bone with the Kamperos score is accurate and relevant but it should preferably be performed in the permanent dentition phase. This is because the area of rhizalysis of the primary teeth and the follicular sac of the erupting permanent teeth influence the presence of effective bone.

Anatomical knowledge retention in Obstetrics and Gynaecology residents and impact of an e-learning tool.

PURPOSE: Anatomical knowledge of medical students and residents is insufficient and further anatomical sciences throughout medical curriculum may be necessary. The first aim of this study was to assess pelvic and perineal anatomical knowledge retention of Obstetrics and Gynaecology (Ob/Gyn) residents. The second was to assess the impact of an e-learning tool on anatomical knowledge. METHODS: A survey was sent by mail to medical students and Ob/Gyn residents. After completion, Ob/Gyn residents were randomised to "e-learning" group or to "Control" group. "E-learning" group had an unlimited access to a tool about female pelvic and perineum anatomy, implemented by iMAIOS society in their online platform. A second assessment of residents' anatomical knowledge was done 2 months after randomisation. RESULTS: Ob/Gyn residents (N = 23) had a significant lower global score than third-year medical students (N = 103) (22.1% (± 10.2) vs 43.8% (± 12.1), p < 0.0001). Two months after randomisation, residents of "control" group demonstrated no significant difference between the two questionnaires (3.6%, p = 0.31), whilst the "e-learning" group demonstrated a significant increase overall (10.6%, p = 0.09). There was no significant difference on the post-intervention questionnaire between control and "e-learning" group (25.4% vs 33% respectively, p = 0.34). CONCLUSION: Knowledge of pelvic and perineal anatomy is poor. This e-learning tool aimed at improving anatomical knowledge retention but is not sufficient. A combination of traditional approaches and innovative solutions should be proposed throughout medical school and residency to maintain anatomical knowledge.

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.

Unique or multiple congenital facial skin polyps are features of several rare syndromes, from the most well-known Pai syndrome (PS), to the less recognized oculoauriculofrontonasal syndrome (OAFNS), encephalocraniocutaneous lipomatosis (ECCL), or Sakoda complex (SC). We set up a research project aiming to identify the molecular bases of PS. We reviewed 27 individuals presenting with a syndromic frontonasal polyp and initially referred for PS. Based on strict clinical classification criteria, we could confirm only nine (33%) typical and two (7%) atypical PS individuals. The remaining ones were either OAFNS (11/27-41%) or presenting with an overlapping syndrome (5/27-19%). Because of the phenotypic overlap between these entities, OAFNS, ECCL, and SC can be either considered as differential diagnosis of PS or part of the same spectrum. Exome and/or genome sequencing from blood DNA in 12 patients and from affected tissue in one patient failed to identify any replication in candidate genes. Taken together, our data suggest that conventional approaches routinely utilized for the identification of molecular etiologies responsible for Mendelian disorders are inconclusive. Future studies on affected tissues and multiomics studies will thus be required in order to address either the contribution of mosaic or noncoding variation in these diseases.

Autologous Fat Grafting in Velopharyngeal Insufficiency Gives Complete and Stable Speech Recovery in Patient Under 7 years.

ABSTRACT: The authorspresent a retrospective observational cohort study of 47 French speaking consecutive patients treated with retropharyngeal wall filling with autologous fat graft from 2006 to 2019 in a single tertiary center, to assess with a long-term follow-up, the best tailored treatment to recovery speech for velopharyngeal insufficiency, and to stress the importance of early treatment with minimally invasive procedure with retropharyngeal wall fat grafting. In preoperative setting, a clinical and instrumental evaluation with aerophonoscope is completed by a palatal closure assessment with nasal endoscopy. All patients were classified according with Borel Maisonny score pre- and post-operatively. Sixty three fat injections were performed. In 4 cases a pharyngeal flap was performed after fat graft for an insufficient speech result. The authors had no complications. Patients with less than 7 years of age obtained a complete recovery of their velopharyngeal incompetence (P = 0.03) compared to older patients. In conclusion, the authors can state that this tailored surgical technique needs a multidisciplinary approach. Many variables can affect postoperative results: fat reabsorption, concurrently performed surgery, pattern of pharyngeal closure, hearing impairment. None of these factors affected our result. Early treatment plays a crucial role to achieve better results. Patients with less of 7 years showed a better result in this functional treatment.

Nasopharyngeal Tube and Functional Treatment in Pierre Robin Sequence: A Tertiary Clinical Experience From 150 Cases.

OBJECTIVES: To describe the initial care practices for children with Pierre Robin sequence (PRS) and analyze the factors predicting the severity of the obstruction breathing disorders. DESIGN: A retrospective single-center study of 150 children with PRS. SETTING: Single tertiary care center, Regional Competence Center for the diagnosis and treatment of PRS. PATIENTS: A total of 150 children with PRS consecutively followed between 1986 and 2017. Group 1 comprises children without specific respiratory management; group 2, children requiring prone positioning to alleviate their respiratory distress symptoms; and group 3, children requiring nasopharyngeal airway tube (NT) or nonconservative surgical treatment. MAIN OUTCOME MEASURES: Evolution and results of the initial treatment of PRS. RESULTS: Forty-two percent (n = 63) were attributed to group 1, 39% (n = 50) to group 2, and 19% (n = 29) to group 3. Preterm birth, birth weight, or associated congenital malformations were not significantly different between the groups. However, the age of exclusive oral feeding was significantly different: 1 day (quartiles: 0-3) for group 1; 11 days (quartiles: 1-28) for group 2; 39 days (quartiles: 19-111) for group 3 (P < .0001). Considering the NT, its use relieves the upper airway obstruction, assessed by a respiratory polygraphy, in 14 children. CONCLUSIONS: Nasopharyngeal airway tube has become our major first-line treatment, avoiding more complex procedures in most of the cases. The achievement of exclusive oral feeding seems to be a good predictor of the severity of respiratory symptoms in PRS.

Hemangiol in infantile haemangioma: A paediatric post-marketing surveillance drug study.

AIM: Infantile haemangioma (IH) is the most common benign tumour in children. Since 2014, propranolol has become the first-choice therapy and currently Hemangiol is the only approved drug for complicated haemangioma. This post-marketing study reports the use of Hemangiol for IH in paediatric practice. METHOD AND RESULTS: From January 2014 to November 2018, 94 children (median age 4 [0; 21] months; 75% female) treated with Hemangiol for proliferative IH were enrolled in the study. The systematic paediatric cardiology consultation never contraindicated beta-blockers. Two Hemangiol initiation protocols were used: a conventional ambulatory 3-week titration phase protocol (n = 76, 80.9%), and a rapid initiation protocol with a 48-hour dose escalation in conventional hospitalization for severe proliferative or ulcerated IH (n = 18, 19.1%). In both protocols, the haemodynamic tolerance was good. The mean maintenance dose of Hemangiol was 2.7 ± 0.8 mg/kg/day, with a median treatment duration of 7 [1.5; 19] months. Adverse events (AEs) have been found in 25 (26,6%) patients, including 8 (8.5%) patients with serious AEs (uncontrolled bronchial hyperreactivity, n = 5; serious hypoglycaemia, n = 3). Some patients had one or more AEs, a total of 24 nonserious AEs was reported in 19 patients (sleep disturbances, n = 9; respiratory disorders, n = 5; digestive disorders, n = 6). No cardiac adverse event was reported. CONCLUSION: This post-marketing surveillance drug study supports the good tolerance of Hemangiol in children with IH. A rapid initiation protocol is of interest when treatment is urgent. The pretherapeutic paediatric cardiology consultation should not be systematic but only indicated for specific patients. CLINICALTRIALS.GOV: NCT04105517.

The Hypoplasic Mandible: What Makes it Different From the Healthy Child?

OBJECTIVE: This study aimed to analyze the morphology of the hypoplasic mandible and its evolution during the growth period to better understand how it differs from the pediatric healthy mandible. METHOD: Three-dimensional mandibular models of hypoplasic and healthy children aged from 39 gestational weeks to 7 years old were analyzed with a morphometric method including data clustering. Morphological distinctions between pathological and healthy mandibles were highlighted. Bilateral and unilateral mandibular hypoplasia were distinguished. RESULTS: The study sample was composed of 31 hypoplasic children and as many sex- and age-matched healthy children. Morphological distinctions between pathological and healthy mandibles were highlighted only from the first year of life. In bilateral hypoplasia, the overall mandibular dimensions were reduced while there was only a ramus asymmetry in unilateral mandibular hypoplasia (mean ± SD of the difference between the Grp03c and Grp03b subgroups: 6.80 ± 6.37 - P value = 1.64e-3 for the height of the left ramus versus 0.18 ± 4.18 - P value = .82 for the height of the right ramus). Supervised classification trees were built to identify the pathology and discriminate unilateral from bilateral mandibular hypoplasia (prediction rates = 81% and 84%, respectively). CONCLUSIONS: Based on a morphometric analysis, we demonstrated that mandibular hypoplasia significantly impacts the mandibular morphology only from the first year of life, with a distinction between bilateral and unilateral hypoplasia.

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.

PURPOSE: Treacher Collins syndrome (TCS) is a rare autosomal dominant mandibulofacial dysostosis, with a prevalence of 0.2-1/10,000. Features include bilateral and symmetrical malar and mandibular hypoplasia and facial abnormalities due to abnormal neural crest cell (NCC) migration and differentiation. To date, three genes have been identified: TCOF1, POLR1C, and POLR1D. Despite a large number of patients with a molecular diagnosis, some remain without a known genetic anomaly. METHODS: We performed exome sequencing for four individuals with TCS but who were negative for pathogenic variants in the known causative genes. The effect of the pathogenic variants was investigated in zebrafish. RESULTS: We identified three novel pathogenic variants in POLR1B. Knockdown of polr1b in zebrafish induced an abnormal craniofacial phenotype mimicking TCS that was associated with altered ribosomal gene expression, massive p53-associated cellular apoptosis in the neuroepithelium, and reduced number of NCC derivatives. CONCLUSION: Pathogenic variants in the RNA polymerase I subunit POLR1B might induce massive p53-dependent apoptosis in a restricted neuroepithelium area, altering NCC migration and causing cranioskeletal malformations. We identify POLR1B as a new causative gene responsible for a novel TCS syndrome (TCS4) and establish a novel experimental model in zebrafish to study POLR1B-related TCS.

Early needle aspiration of large infant cephalohematoma: a safe procedure to avoid esthetic complications.

Cephalohematoma is a common pathology in newborns. Observation is the primary treatment for most patients with small uncomplicated cephalohematoma. Conversely, a large cephalohematoma can lead to calcification with unesthetic local deformation or deformational plagiocephaly. The objective of the study was to evaluate the iatrogenic risk associated with early puncture under local anesthesia and oral sucrose. This is a retrospective study of 67 consecutive newborns followed at Montpellier University Hospital, France, between 2010 and 2017. Large cephalohematoma was defined on the basis of the bump projection. Due to the uncertainty of the spontaneous resorption and the risk of calcification after 4 weeks which render the needle aspiration ineffective, puncture was performed between 2 and 4 weeks of life after coagulation evaluation and ultrasound of the skull and scalp. Puncture was performed in 43 boys (64%) and 24 (36%) girls between day 15 and day 30 after birth. The cephalohematoma maximal projection measured by ultrasound ranged from 9 to 13 mm (Q1,Q4) with a median value of 12 mm. No puncture-related complication was recorded during the intervention and at the 1-month follow-up visit.Conclusion: In newborns with large and persistent unesthetic cephalohematoma, puncture under local anesthesia with oral sucrose can be safely proposed between day 15 and day 30 after birth.What is Known:• Infant cephalohematoma is a frequent pathology of newborns, consisting of a traumatic subperiosteal hematoma of the skull. Most cephalohematomas are small and require no treatment because they spontaneously disappear within the first month.• Large and non-resorptive cephalohematomas may have significant esthetic and functional consequences.What is New:• Early puncture under local anesthesia is a safe, effective, and rapid procedure, decreasing the risk of persistent skull deformities.• Puncture can be proposed for newborns with a large (high projection and/or high angle connection) persistent anesthetic cephalohematoma, between day 15 and day 30, before spontaneous calcification.

Prenatal ultrasound diagnosis of cleft palate without cleft lip, the new ultrasound semiology.

OBJECTIVES: The aim of this study was to define the prenatal ultrasound semiology of cleft palate without cleft lip using 3D visualization of the fetal palate. METHODS: A prospective longitudinal study was performed in our University Hospital Center from 2011 to 2018. The fetal secondary palate was studied in 3D, starting with 2D axial transverse ultrasound view. We defined a cleft palate as a disruption of the horizontal plate of the palatine bone of the secondary palate. Prenatal findings were correlated to anatomic postnatal examinations performed by a paediatric plastic surgeon. RESULTS: Forty-three cases of cleft palate without cleft lip were prenatally diagnosed, of whom 34 were associated with malformations. We defined four types of disruptive appearances: isolated nonvisualization of the posterior nasal spine; partial-disruption or cleft velum; complete disappearance or V-shaped cleft palate; and complete disappearance or U-shaped cleft palate. The adjusted kappa coefficient, between prenatal and postnatal evaluation, was 0.88 (95% CI: 0.79-0.97), corresponding to an excellent agreement. CONCLUSIONS: Using a strictly axial transverse ultrasound view, visualization of the secondary fetal palate enables to diagnose a cleft palate without cleft lip. This method offers a prenatal anatomic classification of cleft palate with a high level of concordance to postnatal findings.

Biological Glue as an Alternative to Suction Drainage in Tissue-Expanded Flaps in Children: Cost-Effectiveness Study.

INTRODUCTION: Biological glue is already used as a hemostatic agent and tissue adhesive in plastic surgery. This study evaluates the use of this glue as an alternative to suction drainage for the adhesion of tissue-expanded flaps in pediatric patients. METHODS: This is a retrospective, multicenter case-control study on 48 flap procedures conducted on 42 children (5 months-12 years of age) between 2004 and 2017, comparing a "glue" group (n = 24) with a control group (n = 24), in which a classic redon drain was used. The control patients were matched according to age, etiology, location of the lesion, and the size of the expander. The primary end point was the duration of hospital stay. RESULTS: The conditions were 24 cases of congenital nevus, 14 of cicatricial alopecia, and 10 of sebaceous hamartoma. Twenty-nine lesions were located on the scalp, 15 on the back, 2 on the thigh, and 2 on the buttocks.The average surgical durations (48 ± 24 vs 63 ± 32 minutes, P = 0.13) and average room occupancy time (126 ± 21 vs 139 ± 44 minutes, P = 0.29) were similar between the glue group and the control group. However, the average duration of hospital stay was lower in the glue group (1.5 ± 1.5 days) than in the control group (3.6 ± 1.3 days, P < 0.0001). The complication rates between the groups were similar. CONCLUSIONS: The application of glue on expanded flaps is as reliable as suction drainage with the advantage of reducing the duration of hospital stay and potentially enabling outpatient treatment for certain patients.

Morphometric characterization of the very young child mandibular growth pattern: What happen before and after the deciduous dentition development?

OBJECTIVES: Numerous tools have been developed to characterize the morphometry of 3D models. The aim of this study was to apply these techniques to better understand the morphometric growth pattern of healthy children's mandibles. MATERIAL AND METHODS: The study sample was composed of 480 very young children aged from 36 gestational weeks to 7 years old. The sample was divided into three subsamples according to the development stages of their deciduous dentition. Several biometric data were collected on 3D mandibular models. RESULTS: There was homothetic growth during the first years of life. Once all deciduous teeth were fully erupted, the mandibular corpus warped more independently of the ramus, and the inter-individual variability was more pronounced. Throughout the growth period, several subgroups could be identified, highlighting the morphological growth pattern of the mandible. CONCLUSIONS: A particular morphogenesis of the mandible during the growth period was observed, which was correlated with deciduous dentition development. In younger individuals, this morphological pattern was mainly characterized by the progressive closure of the chin symphysis and ramus growth. The tongue movements in the oral space, depending on whether the child was bottle- or breast-fed, may explain this result. As the children grew older, the mandible widened to create sufficient space for the developing teeth buds. During the eruption of deciduous dentition, the mandible took on various morphologies, which was likely based on the child's sex and diet. Therefore, we assume that this mandibular morphogenesis is induced by the functional strains affecting the mandible during deciduous teeth development.

B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.

PurposeBased on prenatal suspicion of the combination of radioulnar or radiohumeral synostosis and a peculiar shape of the skull suggestive of craniosynostosis, we report on six patients from four unrelated consanguineous families in whom Antley-Bixler syndrome was suspected during the prenatal period without mutation in genes known to be associated with the syndrome.MethodsMolecular diagnosis involved whole-exome and gene-panel sequencing. RESULTS: All sequenced patients showed a unique homozygous mutation of c.667G>A, p.Gly223Ser (NM_012200) in the beta-1,3-glucuronyltransferase 3 (B3GAT3) gene known to be involved in linkeropathy syndrome. Linkeropathies correspond to a recently identified group of heterogeneous genetic syndromes along a spectrum of skeletal and connective tissue disorders. These patients featured mainly craniosynostosis, midface hypoplasia, bilateral radioulnar synostosis, multiple neonatal fractures, dislocated joints, joint contracture, long fingers, foot deformity, and cardiovascular abnormalities. All died before 1 year of age.ConclusionWe identified a novel B3GAT3-related disorder with craniosynostosis and bone fragility, due to a unique homozygous mutation in B3GAT3. This syndrome should be considered in the prenatal period in light of the severe outcome and as an alternative diagnosis to Antley-Bixler or Shprintzen-Goldberg syndrome.

Experimental evaluation of homemade distal stent graft fenestration for thoracic endovascular aortic repair of type A dissection by a transapical approach.

OBJECTIVE: The use of off-the-shelf stent grafts for thoracic endovascular aortic repair of type A dissections is limited by variability in both the length of the ascending aorta and the location of the proximal intimal tear. This experimental study aimed to assess the feasibility of using a physician-modified thoracic aortic stent graft to treat acute type A dissection by a transapical cardiac approach. METHODS: The experiments were performed on six cadaveric human heart, ascending aorta, aortic arch, and descending aorta specimens. Fenestration was fashioned in each standard tubular Valiant thoracic stent graft (Valiant Captivia; Medtronic Vascular, Santa Rosa, Calif) to match the anatomy of each specimen. Stent grafts of sufficient length were selected to cover the entire ascending aorta and aortic arch. Stent graft diameters in proximal sealing zones were oversized by 5% to 10%. The length of the fenestration was the distance between the left subclavian artery and the proximal edge of the origin of the brachiocephalic trunk with an additional 10 mm. The diameter of the scallop was that of the brachiocephalic trunk with an additional 5 mm on all sides. The length of the covered portion of the stent graft was the distance between coronary arteries and the proximal edge of the origin of the brachiocephalic trunk. Two lateral radiopaque markers were positioned to delineate the distal and lateral edge of the scallop. Another 3-cm radiopaque marker was sutured onto the sheath to ensure accurate radiologic positioning of the scallop on the outer curve of the aorta. The left ventricle and the thoracic aorta were connected to a benchtop aortic pulsatile flow model. A 5-mm 30-degree lens was introduced through the left subclavian artery to monitor the procedure. The customized stent graft was deployed by a transapical approach under fluoroscopic control. RESULTS: Median duration of stent graft modification was 21 minutes (range, 17-40 minutes). All attempts to deploy the homemade proximal scalloped stent graft by a transapical approach were successful. Completion angiography demonstrated patency of the supra-aortic trunks and of the coronary arteries in all cases. Macroscopic evaluation did not identify any deterioration of the customized stent graft. CONCLUSIONS: The use of physician-modified stent grafts is feasible for thoracic endovascular aortic repair of type A dissection by a transapical approach in this model.

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.

The oculoauriculofrontonasal syndrome (OAFNS) is a rare disorder characterized by the association of frontonasal dysplasia (widely spaced eyes, facial cleft, and nose abnormalities) and oculo-auriculo-vertebral spectrum (OAVS)-associated features, such as preauricular ear tags, ear dysplasia, mandibular asymmetry, epibulbar dermoids, eyelid coloboma, and costovertebral anomalies. The etiology is unknown so far. This work aimed to identify molecular bases for the OAFNS. Among a cohort of 130 patients with frontonasal dysplasia, accurate phenotyping identified 18 individuals with OAFNS. We describe their clinical spectrum, including the report of new features (micro/anophtalmia, cataract, thyroid agenesis, polymicrogyria, olfactory bulb hypoplasia, and mandibular cleft), and emphasize the high frequency of nasal polyps in OAFNS (56%). We report the negative results of ALX1, ALX3, and ALX4 genes sequencing and next-generation sequencing strategy performed on blood-derived DNA from respectively, four and four individuals. Exome sequencing was performed in four individuals, genome sequencing in one patient with negative exome sequencing result. Based on the data from this series and the literature, diverse hypotheses can be raised regarding the etiology of OAFNS: mosaic mutation, epigenetic anomaly, oligogenism, or nongenetic cause. In conclusion, this series represents further clinical delineation work of the rare OAFNS, and paves the way toward the identification of the causing mechanism.

A score-based method for quality control of fetal hard palate assessment during routine second-trimester ultrasound examination.

INTRODUCTION: When an orofacial cleft lip is discovered, precise characterization of this malformation is necessary, especially the extension of this cleft to the secondary palate. We aimed to develop and evaluate the feasibility/reproducibility of a score-based quality control for the visualization of the fetal hard palate during the second-trimester scan. MATERIAL AND METHODS: All ultrasound images of fetal hard palate assessed routinely during second-trimester scan were retrospectively retrieved for a 6-month period. One hundred of these images were randomly selected and analyzed by two blinded reviewers, according to a scoring system (0-6 points). Criteria retained in the score were complete palate bone horizontal plate, presence of two pterygoid processes, visible alveolar ridge, and horizontal axis of insonation. A score ≥4 defined images of good quality. Inter- and intra-reviewer reproducibility was assessed. RESULTS: Inter-reviewer reproducibility was excellent with significant correlation (Pearson coefficient 0.953; P < .0001), global adjusted κ coefficient (0.86, 95% CI 0.79-0.94) and individual criteria adjusted κ coefficient always > 0.8. Rates of images of good quality (score ≥ 4) were 75%-77%, also with excellent agreement (κ coefficient 0.89, 95% CI 0.79-0.99). Intra-reviewer reproducibility retrieved the same results (excellent agreement) except for the axis of insonation (satisfactory agreement). CONCLUSIONS: This simple image scoring system for the fetal palate is easy, has excellent inter- and intra-reviewer reproducibility and could also help sonographers to correctly identify the palate structure.

The scalp hair collar and tuft signs: A retrospective multicenter study of 78 patients with a systematic review of the literature.

BACKGROUND: Hair collar sign (HCS) and hair tuft of the scalp (HTS) are cutaneous signs of an underlying neuroectodermal defect, but most available data are based on case reports. OBJECTIVE: We sought to define the clinical spectrum of HCS and HTS, clarify the risk for underlying neurovascular anomalies, and provide imaging recommendations. METHODS: A 10-year multicenter retrospective and prospective analysis of clinical, radiologic, and histopathologic features of HCS and HTS in pediatric patients was performed. RESULTS: Of the 78 patients included in the study, 56 underwent cranial and brain imaging. Twenty-three of the 56 patients (41%) had abnormal findings, including the following: (1) cranial/bone defect (30.4%), with direct communication with the central nervous system in 28.6%; (2) venous malformations (25%); or (3) central nervous system abnormalities (12.5%). Meningeal heterotopia in 34.6% (9/26) was the most common neuroectodermal association. Sinus pericranii, paraganglioma, and combined nevus were also identified. LIMITATIONS: The partial retrospective design and predominant recruitment from the dermatology department are limitations of this study. CONCLUSIONS: Infants with HCS or HTS are at high risk for underlying neurovascular anomalies. Magnetic resonance imaging scans should be performed in order to refer the infant to the appropriate specialist for management.