Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature

In 1990, Gorlin et al. described four types of craniofacial duplications: (1) single mouth with duplication of the maxillary arch; (2) supernumerary mouth laterally placed with rudimentary segments; (3) single mouth with replication of the mandibular segments; and (4) true facial duplication, namely diprosopus. We describe a newborn born with wide-spaced eyes, a very broad nose, and two separate mouths. Workup revealed the absence of the corpus callosum and the presence of a brain midline lipoma, wide sutures, and a Chiari I malformation with cerebellar herniation. We conducted a systematic review of the literature and compared all the cases described as diprosopus. In 96% of these, the central nervous system is affected, with anencephaly being the most commonly associated abnormality. Other associated anomalies include cardiac malformations (86%), cleft palate (63%), diaphragmatic hernia (13%), and disorder of sex development (DSD) (13%). Although the facial features are those that first strike the eye, the almost obligate presence of cerebral malformations suggests a disruptive event in the cephalic pole of the forming embryo. No major monogenic contribution has been recognized today for this type of malformation

Severe peripheral joint laxity is a distinctive clinical feature of spondylodysplastic-ehlers-danlos syndrome (Eds)-b4galt7 and spondylodysplastic-eds-b3galt6

Variations in genes encoding for the enzymes responsible for synthesizing the linker region of proteoglycans may result in recessive conditions known as “linkeropathies”. The two phenotypes related to mutations in genes B4GALT7 and B3GALT6 (encoding for galactosyltransferase I and II respectively) are similar, characterized by short stature, hypotonia, joint hypermobility, skeletal features and a suggestive face with prominent forehead, thin soft tissue and prominent eyes. The most outstanding feature of these disorders is the combination of severe connective tissue involvement, often manifesting in newborns and infants, and skeletal dysplasia that becomes apparent during childhood. Here, we intend to more accurately define some of the clinical features of B4GALT7 and B3GALT6-related conditions and underline the extreme hypermobility of distal joints and the soft, doughy skin on the hands and feet as features that may be useful as the first clues for a correct diagnosis

Mowat-Wilson syndrome: growth charts

Background Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of theZEB2gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and multiple organ malformations of which congenital heart defects and urogenital anomalies are the most frequent ones. To date, a clear description of the physical development of MWS patients does not exist. The aim of this study is to provide up-to-date growth charts specific for infants and children with MWS. Charts for males and females aged from 0 to 16 years were generated using a total of 2865 measurements from 99 MWS patients of different ancestries. All data were collected through extensive collaborations with the Italian MWS association (AIMW) and the MWS Foundation. The GAMLSS package for the R statistical computing software was used to model the growth charts. Height, weight, body mass index (BMI) and head circumference were compared to those from standard international growth charts for healthy children. Results In newborns, weight and length were distributed as in the general population, while head circumference was slightly smaller, with an average below the 30th centile. Up to the age of 7 years, weight and height distribution was shifted to slightly lower values than in the general population; after that, the difference increased further, with 50% of the affected children below the 5th centile of the general population. BMI distribution was similar to that of non-affected children until the age of 7 years, at which point values in MWS children increased with a less steep slope, particularly in males. Microcephaly was sometimes present at birth, but in most cases it developed gradually during infancy; many children had a small head circumference, between the 3rd and the 10th centile, rather than being truly microcephalic (at least 2 SD below the mean). Most patients were of slender build. Conclusions These charts contribute to the understanding of the natural history of MWS and should assist pediatricians and other caregivers in providing optimal care to MWS individuals who show problems related to physical growth. This is the first study on growth in patients with MWS

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype-phenotype correlations of MWS.MethodsIn a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations.ResultsAll anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluation of MWS to date, we define its clinical evolution occurring with age and derive suggestions for patient management. Furthermore, we observe that its severity correlates with the kind of ZEB2 variation involved, ranging from ZEB2 locus deletions, associated with severe phenotypes, to rare nonmissense intragenic mutations predicted to preserve some ZEB2 protein functionality, accompanying milder clinical presentations.ConclusionKnowledge of the phenotypic spectrum of MWS and its correlation with the genotype will improve its detection rate and the prediction of its features, thus improving patient care.GENETICS in MEDICINE advance online publication, 4 January 2018; doi:10.1038/gim.2017.221

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Purpose: Mowat–Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype–phenotype correlations of MWS. Methods: In a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations. Results: All anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluati

Off-Road Path and Obstacle Detection Using Decision Networks and Stereo Vision

Autonomous driving in off-road environments requires an exceptionally capable sensor system, particularly given that the unstructured environment does not provide many of the cues available in on-road environments. This paper presents a complex vision system, which is able to provide the two basic sensorial capabilities needed by autonomous vehicle navigation in extreme environments: obstacle detection and path detection. A variable-width-baseline (up to 1.5 m) single-frame stereo system is used for pitch estimation and obstacle detection, whereas a decision-network approach is used to detect the drivable path by a monocular vision system. The system has been field tested on the TerraMax vehicle, which is one of the only five vehicles to complete the 2005 Defense Advanced Research Projects Agency (DARPA) Grand Challenge course

Obstacle Detection with Stereo Vision for Off-Road Vehicle Navigation

In this paper we present an artificial vision algorithm for real-time obstacle detection in unstructured environments. The images have been taken using a stereoscopical vision system. The system uses a new approach, of low computational load, to calculate a V-disparity image between left and right corresponding images, in order to estimate the cameras pitch oscillation caused by the vehicle movement. Then, the obstacles are localized by stereo matching and mapped in real world coordinates. Experimental results on sequences taken from a moving vehicle (which partecipated to the DARPA Grand Challenge 2004) in different unstructured scenarios are then presented, to demonstrate the validity of the approach

Quaderni di Studi Indo-Mediterranei

La Collana \ue8 dedicata allo studio dell\u2019antica e vasta area culturale che si estende dal bacino del Mediterraneo sino all\u2019Oceano Indiano. Un\u2019area nella quale si sono sviluppate molte delle pi\uf9 importanti civilt\ue0, aventi tutte ben pi\uf9 d\u2019un tratto comune, perch\ue9 fortemente unite lungo i secoli e i millenni, e non solo economicamente. Si pensi agli scambi commerciali e culturali, nonch\ue9 agli insediamenti umani, che hanno nei secoli segnato la formazione, toccandone quindi l\u2019identit\ue0 stessa, delle diverse regioni mediterranee; o ai plurisecolari contatti stabilitisi tra il Mediterraneo e le zone eurasiatiche, sia per terra dalla cosiddetta \u2018Via della Seta\u2019, che per mare dall\u2019ancor pi\uf9 lunga \u2018Rotta delle Spezie\u2019. I volumi della Collana prendono in considerazione soprattutto il periodo che va dalla fine del mondo antico sino alle soglie dell\u2019era contemporanea, com\u2019\ue8 noto caratterizzato da importanti sviluppi della civilt\ue0 ebraica, cristiana, islamica e indiana, e pongono particolare attenzione alla funzione di trait d\u2019union fra Oriente e Occidente svolta dal mondo iranico e turco, dal mondo slavo e da quello greco-bizantino. Questo senza trascurare i pi\uf9 tradizionali ambiti del sapere \u201cmediterraneo\u201d, \u201cislamico\u201d, \u201cindiano\u201d ma, al contrario, con il preciso intendimento di porli in relazione dialogica con questa dimensione di scambio spesso negletta dagli studi di settore