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Schilbach-Rott syndrome (SRS, OMIM% 164220) is a disorder of unknown aetiology that is characterised by hypotelorism, epichantal folds, cleft palate, dysmorphic face, hypospadia in males and mild mental retardation in some patients. To date, 5 families and 17 patients have exhibited this phenotype, and recurrence in two of these families suggests an autosomal dominant inheritance. SRS overlaps with a mild form of holoprosencephaly (HPE), but array-CGH analysis and sequencing of some HPE-related genes (SEPT9, SHH and TWIST) did not reveal any variants in at least one family. Herein, we investigated by array-CGH analysis a 11-year-old female patient and her father, both exhibiting the typical SRS phenotype, disclosing in the daughter-father couple the same microduplication of chromosome 9q22.32q22.33 [arr[hg19]9q22.32 (98,049,611_98,049,636) x3,9q22.33 (99,301,483_99,301,508)x3], involving eight genes, including PTCH1. The duplication segregated with the disease, since it was not found in the healthy paternal grandparents of the proband. The gain-of-function variants of the PTCH1 gene are responsible for a mild form of HPE. This is the first genetic variant found in SRS. This finding reinforces the hypothesis that SRS belongs to the HPE clinical spectrum and suggests to perform array-CGH in patients with SRS phenotype and, if negative, to consider a potential benefit from sequencing of HPE-related genes.

OBJECTIVE To assess the usefulness, feasibility, and limitations of pedicled multifidus muscle flaps (PMMFs) for the treatment of inaccessible dural tears during spine surgery. METHODS The technique of PMMF harvesting was investigated together with relevant anatomy. We prospectively evaluated 8 patients treated with the PMMF technique between January 2017 and December 2019. Results were compared with a retrospective series of 9 patients treated with a standard technique between January 2014 and December 2016. Inclusion criteria were inaccessible dural tear or dural tear judged not amenable to direct repair because of tissue loosening. Exclusion criteria were surgical treatment of intradural disease. Clinical and demographic data of all patients were collected. Clinical evaluations were performed according to American Spinal Injury Association criteria and Oswestry Disability Index. Preoperative and postoperative computed tomography was performed in all patients. The primary end point was wound healing (cerebrospinal fluid leakage, infection, and fluid collection); secondary end points were neurologic outcome and complications. RESULTS Control group: 1 death as a result of wound infection secondary to cerebrospinal fluid fistula and 2 patients needed lumbar subarachnoid drain; neurologic outcome: 3 patients improved and 6 were unchanged. Flap group: no wound-related complications were observed; neurologic outcome: 3 patients improved and 5 were unchanged. No flap-related complications were described. Flap harvesting was feasible in all cases, with an average 20 minutes adjunctive surgical time. CONCLUSIONS The PMMF technique was feasible and safe; in this preliminary experience, its use is associated with lower complications as a result of dural tears but larger series are needed to confirm its effectiveness.

Mutations in the MBOAT7 gene have been described in 43 patients, belonging to 18 families, showing nonspecific clinical features (intellectual disability [ID], seizures, microcephaly or macrocephaly, and mild to moderate cerebellar atrophy) that make the clinical diagnosis difficult. Here we report the first Italian patient, a 22.5-year-old female, one of the oldest reported, born to apparently consanguineous parents. She shows severe ID, macrocephaly, seizures, aggressive outbursts, hyperphagia. We also documented progressive atrophy of the cerebellar vermis, that appeared not before the age of 7. The whole-exome sequencing of the trio identified a novel homozygous variant c.1057_1058delGCinsCA (p.Ala353His) in the MBOAT7 gene. The variant is considered to be likely pathogenic, since it is absent from population database and it lies in a highly conserved amino acid residue. This disorder has a neurometabolic pathogenesis, implicating a phospholipid remodeling abnormalities. A brain hydrogen-magnetic resonance spectroscopy (H-MRS) examination in our patient disclosed a peculiar neurometabolic profile in the cerebellar hemispheric region. This new finding could address the clinical suspicion of MBOAT7-related disorder, among the wide range of genetic conditions associated with ID and cerebellar atrophy. Moreover, the documented progression of cerebellar atrophy and the worsening of the disease only after some years open to the possibility of a therapeutic window after birth.

There are numerous and different uses of rosemary (Rosmarinus officinalis L.) essential oil (e.o.) and experimental results indicating which of the e.o. components is responsible for a specific biological activity. Consequently, it is worth to consider not only the seasonal variation of the the e.o. content but also the proportion of e.o. components that might vary according to season as well. Our aim was to determine the monthly variation in the e.o. composition, plant growth and e.o. yield of an almost continuously flowering rosemary natural population in a coastal Mediterranean environment, in order to understand the best utilization of e.o. according to the oil components detected by means of GC/MS along the different seasons. Alpha pinene ranging from 75.4 to 18.2% and eucalyptol from 15.6 to 3.5%, were the most represented components in all periods of samplings. Camphor and borneol increased in the samplings done after summer. Flowering occurred almost continuously except in the period from mid May to mid August. Production of e.o. was slightly affected by sampling period. The high concentration in alpha pinene, up to a level not recorded before according to the available literature, could be exploited for new pharmaceutical uses. The observation of leaves, stems and flowers by means of scanning electron microscopy, showed in all the examined plant parts the presence of glandular trichomes particularly numerous on leaves in the basal part of the adaxial lamina indicating the importance of leaves for e.o. production.

INTRODUCTION: Here we show the results of two clinical projects carried out in Vietnamese patients suffering from low back pain or stroke aftermath comparing with our protocols with and without ozone therapy. MATERIAL and METHODS: We did a first evaluation (project 1 - 179 patients) of adding ozone therapy in our protocols for low back pain and stroke aftermath. After realizing of the positive results, we started the second proyect (207 patients), comparing directly our old and new protocols that include ozone therapy. The treatment from low back pain were executed with classical paraverteberal injections of ozone. The treatment of stroke were executed with intramuscular injections of ozone in the affected area. RESULTS: Comparing with our traditional treatment methods, ozone can improve the speed and the efficacy of the treatment. CONCLUSION: Due to the small sample size, the results has limitations. However the primary evaluation is a reference which requires to have better collaboration with other physicians in order to increase the sample size and validite strongly this technique.

Acrofrontofacionasal Dysostosis type 1 (AFFND1) is an extremely rare, autosomal recessive syndrome, comprising facial and skeletal abnormalities, short stature and intellectual disability. We analyzed an Indian family with two affected siblings by exome sequencing and identified a novel homozygous truncating mutation in the Neuroblastoma-Amplified Sequence (NBAS) gene in the patients' genome. Mutations in the NBAS gene have recently been associated with different phenotypes mainly involving skeletal formation, liver and cognitive development. The NBAS protein has been implicated in two key cellular processes, namely the non-sense mediated decay and the Golgi-to-Endoplasmic Reticulum retrograde traffic. Both functions were impaired in HEK293T cells overexpressing the truncated NBAS protein, as assessed by Real-Time PCR, Western blot analysis, co-immunoprecipitation, and immunofluorescence analysis. We examined the expression of NBAS protein in mouse embryos at various developmental stages by immunohistochemistry, and detected expression in developing chondrogenic and osteogenic structures of the skeleton as well as in the cortex, hippocampus and cerebellum, which is compatible with a role in bone and brain development. Functional genetics in the zebrafish model showed that depletion of endogenous z-nbas in fish embryos results in defective morphogenesis of chondrogenic cranial skeletal elements. Overall, our data point to a conserved function of NBAS in skeletal morphogenesis during development, support the hypothesis of a causative role of the mutated NBAS gene in the pathogenesis of AFFND1 and extend the spectrum of phenotypes associated with defects in this gene.

Purpose of investigation The aim of this study was to assess the efficacy of the quantitative fluorescent-polymerase chain reaction (QF-PCR) and multiplex ligation-dependent probe amplification (MLPA) combined system to detect chromosome alterations in miscarriage products, as an alternative to conventional cytogenetic testing. Material and methods This study was conducted between 2011 and 2015 on 264 samples, analyzed using the combined system: QF-PCR/MLPA. This approach first analyzed miscarriage products for chromosomes 13, 18, 21, X and Y, using QF-PCR analysis; in case of ovular fragments, an analysis of maternal DNA was carried out in order to establish the origin of material. Whenever fetal origin was determined, MLPA analysis on the subtelomeric regions was car- ried out. Results On 264 miscarriages analyzed, 229 were of fetal origin and produced the following results: 53.7% normal and 46.3% pathological. Of the latter, 74.4% were autosomal aneuploidies, 10.4% triploidies, 8.5% sex chromosomal aneuploidies, 3.7% structural alterations, and 2.7% multiple aneuploidies. Results from QF-PCR were obtained from all samples, whereas unambiguous MLPA re- sults were obtained in about 90% of all cases. Conclusion This approach results being highly effective for examining all chromosome aneuploidies, triploidies, as well as structural unbalanced alterations in the subtelomeric regions.

Lo sviluppo e il potenziamento delle filiere produttive a partire dalla valorizzazione delle risorse autoctone e del sapere locale costituiscono i presupposti per raccogliere nuove idee progettuali. Fare sistema e proporsi sul mercato in termini più concorrenziali, con prodotti tracciabili e di alta qualità è l'obiettivo che si pongono Enti locali , organismi di ricerca e imprenditori attraverso l'analisi dei problemi e dei fabbisogni al fine di individuare gli obiettivi da raggiungere in un Progetto strategico territoriale. Di seguito sono descritti degli esempi di cooperazione progettuale in corso di sviluppo nel nostro territorio: Progetto "CarBio - Carciofo biologico: innovazione e sostenibilità di filiera" Il progetto ha come obiettivo principale l'introduzione nella filiera produttiva del carciofo Spinoso sardo di un prodotto fresco o semilavorato ottenuto in regime biologico. Nello specifico, le produzioni saranno confrontate in funzione di produttività, aspetti qualitativi, nutrizionali, nutraceutici e di conservabilità del prodotto fresco. Saranno individuate poi le tecnologie più idonee a prolungare la shelf-life (vita di scaffale) e a garantire una migliore qualità del prodotto fresco da destinare non solo ai mercati locali ma anche all'esportazione verso mercati nazionali e internazionali. Tracciabilità nella filiera foraggero-zootecnica I cambiamenti attesi mireranno alla diversificazione delle produzioni, creazione di reddito aggiuntivo, conservazione e valorizzazione della biodiversità in eco-agrosistemi innovativi. Le strategie future, attraverso il trasferimento di conoscenze tecnico-scientifiche consolidate alle imprese, in stretta connessione con gli Enti territoriali, saranno indirizzate alla loro competitività nelle filiere agro-zootecniche e turistiche, alla valorizzazione di risorse vegetali autoctone e dei prodotti zootecnici e alla formazione di figure professionali specifiche.

Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder clinically characterized by megaloblastic anemia, benign mild proteinuria, and other nonspecific symptoms. Several pathogenetic variants in the amnionless (AMN) or cubilin (CUBN) genes have been described in IGS. We describe a case of IGS with urinary tract infection and mild but persistent proteinuria at onset in an 11-month-old female child. With the appearance of macrocytic anemia, aphthous stomatitis, and neurological signs, IGS was clinically suspected, and vitamin B12 parenteral therapy was started. Sequence analysis showed the presence of a novel intronic variant c.513+5G>A of AMN, never before described in the literature, that was in compound heterozygosity with the known pathogenetic variant c.1006+34_1007-31del. Analysis extension to the parents revealed the presence of variant c.1006+34_1007-31 in the father and c.513+5G>A in the mother. In the present case with IGS, the novel intronic variant of AMN was identified in “trans„ with a known pathogenic variant (c.1006-31 del) and the new variant was interpreted to be pathogenetic since it was not found in the public database of polymorphisms and because it was predicted to alter a donor splicing site. Our case underlines the relevance in detecting certain subtle symptoms, such as mild but persistent proteinuria associated with megaloblastic anemia, to reach a correct diagnosis of a rare but treatable disorder.

In addition to its uses in pharmaceuticals, perfumes, and cosmetics, rosemary's multiple biological activities may be applied to preserve foodstuffs and reduce the risks of foodborne diseases (1). The black Aspergilli group, in particular Aspergillus carbonarius (Bain.) Thom, is a common Mediterranean contaminant, especially of fruit. This fungus, besides being a contaminant, can also produce ochratoxin A (OTA), a highly toxic fungal secondary metabolite (2). Therefore, fungal growth control is very important for the safeguarding of both plant production and human health. We tested the effect of rosemary essential oil (e.o.) on the inhibition of A. carbonarius growth in a conducive liquid medium. Rosemary cuttings from a rosemary natural population in Alghero (NW Sardinia) were transplanted in an experimental field in Castelsardo-Lu Bagnu (NW Sardinia) in May 2017. Morpho-phenological data were collect on plants and the e.o. was extracted by steam distillation and used for a biological activity assay against A. carbonarius. The e.o. chemical profile was also determined by GC-MS. Variability of both morphological traits and of phenology were observed within the rosemary population, and two plant types were identified, one of which produced a higher number of flowers and had a longer flowering season. The main components of e.o. were ?-pinene, eucalyptol and camphene for one type and ?-pinene, caryophyllene and camphene for the other. The rosemary e.o. significantly inhibited growth of A.carbonarius. This result should encourage verification of this oil's other biological activities, such as its effect on OTA biosynthesis by the same fungus. This study was developed in collaboration with the Temporary Reception Center for migrants and asylum seekers (CAS) of Baja Sunajola run by the Social Cooperative La Luna in Lu Bagnu-Castelsardo, in the frame of a training project about medicinal and aromatic plants cultivation for essential oil production. Acknowledgment: the support of "Fondazione con il Sud" to Artemisia Project is gratefully acknowledged.

In Mediterranean grazed woodlands, microclimate changes induced by trees influence the growth and development of the understory but very little is known about its phenolic composition in relation to the contrasting exposure to full sunlight or shade. Phenolic acids, flavonoids and tannins are the most important compounds for biological activities and especially antioxidant properties and related implications in animal nutrition and welfare. The research was carried out in a cork oak agrosilvopastoral system in Sardinia, where we investigated the bioactive compounds and antioxidant capacity of different legume-based swards subjected to variations in light intensity. Open areas with full sunlight exposition (FS) and areas under tree canopy with partial shade conditions (PS), under a cork oak (Quercus suber L.) density of 450 trees ha-1 were carefully identified. Light levels of photosynthetically active radiation were measured using a SunScan canopy analysis system (Delta-T Devices, Cambridge, UK). For both FS and PS, the following legume based swards were compared: Fertiprado commercial legume mixture, with 100% annual legume composition, CNR ISPAAM mixture, with 80% legume composition, Bladder clover, Trifolium spumosum L., elite Sardinian accession pure sward and semi natural pasture with 60% of legume composition. Total phenolics, total flavonoid and antioxidant capacity were determined and single phenolic compounds were identified. Light interception by cork trees was 85, 77 and 70% in January, April and May, respectively due to the different solar azimuth angle of the seasons. The antioxidant capacity,total phenolics and total flavonoid of the different legume-based swards were significantly affected by the contrasting conditions of light intensity, as well as by the type of legume-based sward. Compared to full sunlight, partial shade reduced antioxidant capacity values by 29 and 42%, and total phenolics content by 23 and 53% in Fertiprado and semi natural pasture. Twelve phenolic compounds were detected, verbascoside in bladder clover mixture was the most abundant in full sunlight and neochlorogenic acid and isorientin were abundant in partial shade in CNR ISPAAM mixture and in unsown semi-natural pasture respectively. As antioxidant capacity and the content of plant secondary metabolites ascertained in the legume-based swards could potentially affect the nutritional properties of forage, their variations caused by contrasting light intensities thus represent a particular benefit, which must be exploited as an additional service from agroforestry. Our results provide new insights into the effects of light intensity on plant secondary metabolites from legume based swards, underlining the important functions provided by agroforestry systems.

Taraxacum kok-saghyz L.E.Rodin (rubber or Russian dandelion, thereafter referred to as TKS) is a dandelion species native to Kazakhstan, Uzbekistan and north-west China, considered as a promising alternative source of natural rubber (NR) from its roots. It has been stated that, within the process for producing of an economic supply of NR from TKS roots, one of the major challenges is the exploitation of large quantity of byproducts that result from separating and purifying its NR. These include the non-rubber parts of roots and leaves, which must also be separated and converted into products and/or raw materials of value to different commercial sectors. A plenty of literature deals with the antioxidants from leaves in Taraxacum genus species except than in TKS. Thus, the specific aim of this study was to investigate the possible exploitation of TKS leaves, which represent a rubber byproduct, as a source of phenolic compounds with antioxidant properties for potential applications in forage, nutraceutical and pharmacological fields. Two accessions (TKS016, TKS018) grown in Sardinia (Italy) under Mediterranean conditions were investigated at vegetative and flowering stages, respectively. Leaf samples were kept on ice and stored at -80 °C, until lyophilisation. The procedures for sample preparation were according to (Re et al., 2019). Antioxidant capacity [ABTS ((2,2'-azinobis (3-ethylbenzothiazoline-6-sulphonic acid) diammonium salt)) and by DPPH (1,1-diphenyl-2-picrylhydrazyl) assays], total phenolics and total flavonoids were quantified following procedures previously reported by Sulas et al., 2016. Analysis of phenolic compounds was performed on an HPLC instrument and the chromatographic separation was carried out according to Piluzza et al., 2019. The leaves of TKS018 had the highest antioxidant capacity values (19.6 mmol trolox equivalent antioxidant capacity 100 g -1 ), total phenolic (106.4 g gallic acid equivalent kg -1 ), and total flavonoid contents (22.9 g catechin equivalent kg -1 ). At both phenological stages, TKS016 showed significantly lower values than TKS018 in DPPH, and total phenolic. Among twentyone phenolic compounds screened, six individual molecules were identified, namely chlorogenic, cryptochlorogenic, caffeic, sinapic, chicoric and 3,4-dimethoxycinnamic acids. In particular, chicoric acid (8.53 - 10.68 mg g -1 DW) and chlorogenic acid (4.18 - 7.04 mg g -1 DW) were the most abundant identified in leaves of TKS. Chicoric acid has been already identified as the major compound occurring in T. officinalis aerial part as our results. A study on T. formosanum Kitam, a chinese medicinal herb, quantified chicoric acid as the predominant phenolic acid in its plant extracts. It has been reported that chicoric acid possesses various functional properties including antioxidant, antivirus and immunoregulation. Based on our results, T. kok-saghyz represents an important source of chicoric acid with potential application as antioxidant to be used as herbal medicine and nutrition for production of healthy food/feed. Additionally, leaves exploitation as an antioxidant source might contribute to an economic supply of TKS rubber chain.

Extending forage production with lucerne-grass mixtures in a Mediterranean rainfed environment

La variabilità e l'elevata biodiversità dei pascoli mediterranei, il contenuto di composti bioattivi in specie da pascolo, influiscono sulle proprietà del foraggio e possono influenzare le caratteristiche chimiche e nutraceutiche del latte e di conseguenza del formaggio. Il formaggio diventa quindi l'espressione ambientale, economica ed identitaria di un territorio.

Mediterranean agroforestry systems, which integrate perennial woody plants with livestock, pastures and/or forage crops benefit from legume establishment. The sown of biodiverse permanent pastures rich in legumes is recognized as an economically rational strategy to increase grassland productivity and sustainability. This study is aimed at evaluating the forage performances and N fixation ability of different legume based swards, which were subjected to variations in light intensity. The research was carried out in a cork oak Mediterranean agro-silvopastoral system in Sardinia, where open areas with full sunlight exposition (FS) and areas under tree canopy with partial shade conditions (PS), under a cork oak density of 450 trees ha-1 were identified. Light levels of photosynthetically active radiation were measured using a canopy analysis system. For both FS and PS plots, arranged in a completely randomized design with three replications, four legume based swards were compared: Fertiprado legume mixture (100% legume composition), CNR ISPAAM mixture (80%), Bladder clover pure sward and semi-natural pasture (60%). Dry matter yield and botanic composition were determined on five sampling areas per plot and forage subsamples were analysed for bromatological composition. The N2 fixation was estimated by 15N isotopic dilution method (Unkovich et al. 2010), using barley as a non-fixing reference species. Light interception by cork trees ranged from 85 to 70% in January and May, respectively, due to the different solar azimuth angle of the seasons. Beneath cork oak cover with a PS (70% of light interception), aboveground dry matter yield represented 41, 45, 46 and 52% compared to the corresponding values under FS of legume based swards under comparison, namely unsown semi natural pasture, CNR mixture, bladder clover pure sward and Fertiprado, respectively. Crude protein content significantly increased (up to 57%) in PS, whereas Neutral Detergent Fibre was not significantly affected by light intensity. Results pointed out that the rates on N derived from the atmosphere by the understory legumes, were about half than the corresponding values obtained under FS, except for semi-natural pasture. In fact, PS significantly increased shoot N percentage and atom% 15N excess of understory legume based swards but, in meantime, decreased their absolute rates of N fixation, compared to the same legume swards growing in FS. Moreover, PS led to longer shoots and wider plant leaf area in several legume species, whereas leaf chlorophyll contents were unaffected by light intensity. Photosystem efficiency ratio was also affected by light intensity. Research highlight relevant variations in legume plant biomass yield and traits and clear reductions in N derived from atmosphere rates caused by light interception under PS. Results could had been also affected by differences in nutrient competition, microbiota and mineral N in the soil beneath trees.

Guayule is a perennial shrub endemic to northern Mexico, which has received attention as an alternative source of natural rubber. As the guayule leaves represent a byproduct, their exploitation might contribute to improve the sustainability of whole rubber chain. In semiarid regions where guayule grows wild its leaves are grazed by sheep, goats and rabbits, even if information regarding cromatological traits are still missing. Native shrubs are essential dietary sources for ruminants in Southern Europe to alleviate feed shortages. It is important to investigate if guayule leaves might be an opportunity for feeding livestock in Mediterranean area. Within a research aimed at evaluating the guayule performances, our objective was to investigate the bromatological composition of guayule leaves in view of their exploitation as a fodder resource. Guayule was grown on experimental plots in Southern Sardinia, Italy. In late summer, leaf samples were hand plucked, to simulate grazing, from undisturbed three-year-old plants. Leaves were weighted, oven dried at 65 °C, then ground to 1 mm screen. Total N was determined using Kjeldahl method and crude protein (CP) was calculated by multiplying the N content by 6.25. Neutral and acid detergent fibres (NDF and ADF) and acid detergent lignin (ADL) were determined by using the procedure of Van Soest et al. (1991) and ether extract using (EE) Soxhlet extraction. Total digestible nutrients (TDN), digestible dry matter (DDM), dry matter intake (DMI), relative feed value (RFV) and net energy for lactation (NE l ) of leaves were estimated according to the equations adapted from Lithourgidis et al. (2006). Green leaves represented up to 15% dry of shoot biomass. Leaf DM content was in the range 100 - 130 g kg -1 dry matter (DM). CP concentration of leaves ranged from 137 to 175 g kg -1 DM. NDF did not exceed 374 g kg -1 DM and ash content ranged from 180 to 230 g kg -1 DM. On average, the values of TDN, DDM, DMI, RFV and NE l in leaves were 774 and 775 g kg -1 DM, 33.4 g kg -1 of body weight, 193% and 1.84 Mcal kg -1 , respectively. As regard Mediterranean conditions of Sardinia, CP of standing hay (i.e., ungrazed dry residuals in natural and improved pastures) decreased to 4% in summer, whereas the CP values in guayule leaves reached 17.5%. It is worth of note that leaf RFV exceeded 151 value, which is indicative of a prime forage. The potential of guayule to maintain green leaves at the end of summer coupled with its peculiar chemical composition can be exploited for compensating seasonal fodder shortages associated to drought season and/or the delayed establishment of annual forage crops. Our results give clues that guayule has the potential to supply high quality green forage for complementing conventional forage resources of Mediterranean farming systems. Results also encourage further investigations dealing with the chemical characterization of protein fractions, palatability and bioactive compounds in guayule leaves.

Moyamoya angiopathy (MA) is a rare cerebrovascular disorder characterised by the progressive occlusion of the internal carotid artery. Its aetiology is uncertain, but a genetic background seems likely, given the high MA familial rate. To investigate the aetiology of craniosynostosis and juvenile moyamoya in a 14-year-old male patient, we performed an array-comparative genomic hybridisation revealing a de novo interstitial deletion of 8.5 Mb in chromosome region 1p32p31. The deletion involved 34 protein coding genes, including NF1A, whose haploinsufficiency is indicated as being mainly responsible for the 1p32-p31 chromosome deletion syndrome phenotype (OMIM 613735). Our patient also has a deleted FOXD3 of the FOX gene family of transcription factors, which plays an important role in neural crest cell growth and differentiation. As the murine FOXD3(-/-) model shows craniofacial anomalies and abnormal common carotid artery morphology, it can be hypothesised that FOXD3 is involved in the pathogenesis of the craniofacial and vascular defects observed in our patient. In support of our assumption, we found in the literature another patient with a syndromic form of MA who had a deletion involving another FOX gene (FOXC1). In addition to describing the clinical history of our patient, we have reviewed all of the available literature concerning other patients with a 1p32p31 deletion, including cases from the Decipher database, and we have also reviewed the genetic disorders associated with MA, which is a useful guide for the diagnosis of syndromic form of MA.