Search Results (35)

Background: Early assessment of cranial deformities in newborns, such as plagiocephaly, brachycephaly, dolichocephaly, turricephaly, and trigonocephaly, requires precise and non-invasive methods. Methodology: This study presents a methodology using a 3D scanning smartphone application to capture three-dimensional head point clouds. A total of 60 3D point cloud cases were classified according to six classes of head deformities. These 60 real 3D point clouds were expanded to 3600 semi-synthetic point clouds via controlled geometric transformations simulating realistic cranial variations. A total of 138 morphometric descriptors were extracted per class, representing spatial head features as distances from the centre of the point cloud to the head surface. These descriptors were used to train and compare three machine learning models: decision tree, random forest, and multilayer perceptron, enabling the automatic classification of six infant’s head deformities. Results: The machine learning models achieved high classification accuracy, with F1-scores up to 0.98, demonstrating the effectiveness of the approach. Conclusions: The results demonstrate the potential of combining mobile 3D sensors, image-based modelling, semi-synthetic data, and artificial intelligence to provide predictive support in clinical applications, highlighting the usefulness of low-cost portable optical sensors. Full article

Anaesthetic-related mortality in cats is uncommon, yet concerns persist regarding potential breed predispositions and the influence of brachycephalic conformation. This study evaluated breed-specific peri-anaesthetic death before and after adjustment for American Society of Anesthesiologists (ASA) physical status. It explored whether genomic lineage or brachycephalic phenotype was associated with mortality. A prospective, multicentre cohort of general anaesthetics from 198 centres was analysed. Anaesthetic-related death was defined as death during anaesthesia or within 48 h after extubation, excluding euthanasia and deaths attributed to non-anaesthetic causes. Breeds were grouped into four genomic lineages and three brachycephalic phenotypes. Mortality proportions (Wilson 95% confidence intervals) were calculated, and relative risks (RR) were estimated using Poisson regression with robust standard errors, adjusting for ASA class. Among 14,964 cats, 94 deaths occurred (0.63%; 95% CI 0.51–0.77), with mortality increasing from 0.07% (ASA I) to 33.33% (ASA V). After ASA adjustment, most breeds did not differ from European/Domestic Shorthair cats, but Persians remained at increased risk (RR 2.22; 95% CI 1.11–4.46). Mortality did not differ between genomic lineages. Moderate brachycephaly was not associated with an increased risk, whereas brachycephalic breeds (Persian, Exotic Shorthair, Himalayan) showed a higher adjusted risk (RR = 2.33; 95% CI, 1.17–4.63). Full article

Background/Objectives: Autosomal recessive primary microcephaly is a rare and genetically heterogeneous disorder characterized by congenital non-syndromic microcephaly, with at least 28 causative genes identified to date. Biallelic variants in the CDK5RAP2 gene, an ultra-rare cause of autosomal recessive primary microcephaly, lead to Primary Autosomal Recessive Microcephaly 3 (MCPH3). Methods: We present seven patients from six families diagnosed with MCPH3 in light of clinical and molecular findings using whole-exome sequencing (WES). Furthermore, we investigated the effects of the identified intronic variants on splicing through RNA analysis. Results: Almost all patients had severe microcephaly, mild to moderate intellectual disability, speech delay, and cutaneous pigmentary abnormalities. Four patients presented with postnatal short stature, and two showed weight deficiency. Dysmorphic evaluation revealed that the most prominent features included brachycephaly, hypertelorism, epicanthus, high-arched eyebrows, prominent nasal bridge, and micrognathia. We identified five distinct homozygous CDK5RAP2 variants in our patients, including four novel variants. Segregation analysis verified that the parents were carriers. Two of these variants were intronic (c.3148+5G>C and c.383+4dupA), two were frameshift (c.3168del), and one was a nonsense variant (c.1591C>T). Both intronic variants disrupted splicing, generating a premature stop codon and resulting in a truncated protein. Conclusions: This study broadens the mutational landscape of CDK5RAP2. We also sought to demonstrate the functional consequences of the CDK5RAP2 intronic variants on gene function using RNA analysis. The identification of four novel variants underscores the importance of molecular diagnostics in patients with primary microcephaly and provides valuable data for genetic counseling and future functional studies. Full article

Lop-eared and brachycephalic conformations have inconsistently been associated with dental abnormalities in pet and rescue rabbit populations. We investigated conformational risk factors for dental abnormalities in a pedigree population where conformation could be confirmed. Otoscopic oral examination was performed on breeder-volunteered pedigree rabbits at British Rabbit Council shows and studs. Multivariable models were used for risk factor analysis of 14 possible dental disease signs. In 435 rabbits examined, 68.28% showed no incisor abnormalities and 55.40% showed no cheek teeth abnormalities. Lop-eared rabbits had higher odds than erect-eared rabbits for ocular discharge (odds ratio [OR]: 4.034, p = 0.007) but not for any dental abnormalities. Erect-eared rabbits showed higher odds of reacting to incisor examination than lop-eared rabbits (OR: 1.666, p = 0.003). Brachycephaly showed no associations with dental abnormalities, whilst more dolichocephalic rabbits had increased odds of cheek teeth step or wave mouth (OR: 1.394, p = 0.004). Other conformational and signalment-related risk factor results were mixed. Brachycephaly showed no significant predisposition to dental abnormalities, and the clinical relevance of predisposition to ocular discharge in lop-eared rabbits is unclear. Conformation appears less important than husbandry factors for preventing rabbit dental disease. Generalising the results to companion rabbits is not advised due to husbandry and population differences. Full article

This study, which involved 868 patients, focused on size-dependent features (body size, pinna formation, brachycephaly, overweight) and their associations with the occurrence of canine Otitis externa. Breed, sex, and neuter status were also included. Canine patients diagnosed with Otitis externa presented between 1 January 2019 and 31 July 2022 in a referral small animal hospital were included, while dogs with matching categories presented at the Unit for Reproductive Medicine in the same time period functioned as a randomized control group. Statistical analyses included Pearson–Chi² test, Fisher’s exact test, and Bonferroni correction. p-values of <0.05 were considered statistically significant. Rhodesian Ridgebacks, non-brachycephalic breeds, intact female dogs, dogs with semi-erect ears, and large-sized breeds had a significantly reduced risk of developing Otitis externa. Conversely, Pugs, French Bulldogs, Cocker Spaniels, medium-sized breeds, dogs with erect ears, brachycephalic breeds, neutered female, and neutered male patients were more frequently diagnosed with Otitis externa. The study concluded that large breed dogs showed a reduced risk of developing Otitis externa in our data set as well as meso- and doliocephalic breeds and dogs with semi-erect pinna formation. Particularly, the Rhodesian Ridgeback and intact female dogs showed a significantly low risk of suffering from Otitis in the current study. Full article

Objectives: The objective of this study was to analyze the correlation between muscle tone distribution disorders and asymmetry, with specific postnatal positional cranial deformities in infants. The study focused on assessing the level of unilateral occipital flattening and the extent of symmetrical occipital flattening. Methods: The study involved 60 infants aged between 1 and 5 months. Each infant was neurologically diagnosed and assigned to one of three groups: asymmetry, reduced muscle tone, or increased muscle tone. Each group consisted of 20 infants (10 girls and 10 boys). A MIMOS craniometer was used to measure the infants’ head shapes, calculating the cranial vault asymmetry (mm) and cranial index (%). The data were analyzed and processed using Statistica software and appropriate statistical tests. Results: The results revealed a correlation between asymmetry and reduced muscle tone, increased muscle tone, and specific positional head deformities in infants up to the age of 5 months. Full article

The popularity of brachycephalic dogs has increased worldwide despite growing evidence of their profound health and welfare issues, largely as a result of their extreme conformation. This study aimed to evaluate the prevalence and risk factors for known perceptual barriers to improving their welfare. An online survey of n = 2006 UK dog owners was conducted, including owners of non-brachycephalic (non-BC; n = 964), mild-moderate brachycephalic (M-BC; n = 706), and extreme brachycephalic (E-BC; n = 336) dogs. The survey explored contemporary knowledge and attitudes toward brachycephalic dogs, with multivariable statistical analyses identifying risk factors for normalisation of brachycephaly-related abnormalities, preference for flat faces and ‘laziness’ in dogs, and self-reported intractability to being deterred from buying a brachycephalic breed. Almost 1 in 7 E-BC owners considered that there was ‘nothing’ that could dissuade them from buying a brachycephalic dog, predicted by a strong preference for flat faces as a highly desirable aesthetic characteristic and beliefs that brachycephaly did not negatively impact lifespan. E-BC owners were most likely to consider flat faces a highly desirable aesthetic characteristic, predicted by highly valuing ‘laziness’ as a behavioural characteristic. Preference for ‘laziness’ as a behavioural characteristic was predicted by low levels of pre-purchase research and aesthetic preferences (e.g., flat faces, large size). High levels of normalisation of brachycephaly-related abnormalities were observed across all ownership groups, particularly for clinical signs related to exercise intolerance, with these beliefs predicted by deficits in dog acquisition behaviours and knowledge, and intractability from being deterred from purchasing a flat-faced dog. These findings highlight the pervasiveness of perceptual barriers that inhibit campaigning regarding brachycephaly and the need for targeted interventions to address misconceptions (e.g., ‘myth busting’ laziness as a positive trait), while being mindful of the heterogeneity of beliefs within the brachycephalic-owning population, particularly the intractable sub-population to whom shifting preferences away from flat-faced conformations may prove impossible without stronger measures, e.g., legislative change. Full article

Backgrounds/Objectives: The surge in deformational head shapes (DHSs) over the past 30 years has led to increased interest in comparing the treatment options of Repositioning Therapy (RT) and a Cranial Remolding Orthosis (CRO). This study investigates the amount and rate of 2D and 3D correction in infants with DHSs during these treatments. Methods: A total of 34 infants with DHSs were enrolled (RT group, n = 18; CRO group, n = 16). Infants were discharged after achieving correction or reaching 12 months of age. Two-dimensional scan/caliper measurements and three-dimensional scan measurements were collected at treatment initiation and conclusion (or 12 months of age). Results: Asymmetric infants in the RT group averaged a 2dCVAI reduction of 3.59 ± 1.57 and 3dCVAI correction of 12.17 ± 13.02 versus 4.44 ± 2.99 and 21.72 ± 15.36 correction in the CRO group (2d p = 0.6656; 3d p = 0.1417). Disproportionate infants in the RT group averaged a 2dCI reduction of 3.13% ± 2.57% and 3dCI reduction of 24.53 ± 24.01 while the CRO group averaged 5.21% ± 2.78% and 55.98 ± 25.77 (2d p = 0.0383*; 3d p = 0.0254*). Asymmetrical RT mean 2dCVAI weekly change was 0.21 ± 0.15 while CRO was 0.23 ± 0.17 (p = 0.7796). The 3dCVAI weekly change was 1.05 ± 1.55 in the RT group versus 1.17 ± 0.95 in the CRO group (p = 0.4328). Disproportionate RT mean 2dCI weekly change was 0.12 ± 0.11 while CRO was 0.23 ± 0.11 (p = 0.0440*). The 3dCI weekly change was 0.87 ± 0.91 in the RT group versus 3.02 ± 2.16 in the CRO group (p = 0.0143*). Conclusions: Results indicate that CRO treatment achieves greater total correction and rate of correction. Statistical significance was found in the treatment of disproportional DHSs, but further investigation is needed with a larger sample size. Full article

Objectives: Positional deformity (PD), also known as deformational plagiocephaly or non-synostosis, is a primary cause of abnormal head shape and asymmetry in infants. The most common type, occipital plagiocephaly, leads to flattening of one side of the back of the head or the entire head (positional brachycephaly). PD results from external forces on the growing skull, often due to childbirth and improper positioning during sleep. The incidence is approximately 1 in 300 births, with prevalence peaking between the seventh week and four months of age. Our objective was to monitor craniofacial parameters in patients with positional deformity (PD), to evaluate cranial asymmetry and PD severity, and to determine the relationship between craniofacial asymmetry and PD severity. Methods: This study included patients from the Department of Pediatric Neurosurgery at the National Institute of Children’s Diseases and the Faculty of Medicine, Comenius University in Bratislava, Slovakia. Craniofacial parameters on the right and left sides of the face were examined. Results: Significant differences were found in the upper and middle thirds of the face, indicating a strong association between positional deformity and facial asymmetry. Conclusions: the findings contribute new insights into craniofacial anthropometry and neurosurgery, enhancing the diagnosis of positional deformity in Slovakian patients. Full article

Craniofacial development is a critical aspect of pediatric growth, influencing fields such as physical anthropology, pediatrics, forensic sciences, and clinical practice. Objectives: This study aimed to assess the trends in craniofacial measurements and indices in Latvian children aged 1–15. Methods: The anthropometrical measurements (head circumference, length, width, facial length, and width) were conducted on 375 children according to the guidelines by R. Martin, K. Saller, and J. Prīmanis at the Anthropology laboratory at the Institute of Anatomy and Anthropology, Rīga Stradiņš University. The cephalic index (CI) and the facial or prosopic index (PI) were calculated, allowing for a detailed examination of cranial and facial proportions. The data were analyzed using descriptive and inferential statistics, including the Pearson Chi-square test and the Spearman correlation coefficient. Results: The findings revealed a consistent increase in head circumference with age, with boys generally having slightly larger heads than girls. The boys and girls exhibited growth in head length and width, particularly noticeable between 1 and 2 years of age. Facial length and width increased with age, with boys typically having longer facial lengths and broader faces than girls. The most common cephalic index category is mesocephaly, which accounts for 52.85% of the population, followed by dolichocephaly at 32.94%. Brachycephaly and hyperbrachycephaly are less prevalent, representing 11.36% and 2.86% of the population. Regarding the facial index categories, hypereuryprosopic is the most prevalent, representing 45.54% of the population, closely followed by euryprosopic at 43.74%. Mesoprosopic is significantly less common, representing only 9.95%. The least common categories are leptoprosopic and hyperleptoprosopic, with prevalences of 0.64% and 0.12%, respectively. The indices analysis showed variations across age groups, with dolichocephaly being more common at younger ages and decreasing over time. Brachycephaly and hyperbrachycephaly remained relatively stable or decreased slightly with age, while mesocephaly displayed less variation. The relationship between the FI and CI in younger age groups was typically weak to moderate and inverse, with a significance level of p < 0.001 or p < 0.01. However, no meaningful correlation was observed in older children aged 14–15. Conclusions: This study provides valuable insights into the craniofacial development of Latvian children, highlighting the measurements, cranial and facial types, and their variations across age groups. Full article

Background: Neither radiological phenotypic characteristics nor reconstruction CT scan has been used to study the early anatomical disruption of the cranial bone in children with the so-called idiopathic type of West syndrome. Material and Methods: The basic diagnostic measures and the classical antiepileptic treatments were applied to these children in accordance with the conventional protocol of investigations and treatment for children with West syndrome. Boys from three unrelated families were given the diagnosis of the idiopathic type of West syndrome, aged 7, 10 and 12 years old. Parents underwent extensive clinical examinations. Three parents (age range of 28–41 year) were included in this study. All children showed a history of intellectual disabilities, cryptogenic epileptic spasms and fragmented hypsarrhythmia. These children and their parents were referred to our orthopedic departments because of variable skeletal deformities. Variable forms of skeletal deformities were the motive for the families to seek orthopedic advice. A constellation of flat foot, torticollis and early-onset osteoarthritis were observed by the family doctor. Apparently, and from the first clinical session in our practice, we felt that all these children are manifesting variable forms of abnormal craniofacial contour. Thereby, we immediately performed detailed cranial radiological phenotypic characterization of every affected child, as well as the siblings and parents, and all were enrolled in this study. All affected children underwent whole-exome sequence analysis. Results: The craniofacial phenotype of all children revealed apparent developmental anatomical disruption of the cranial bones. Palpation of the skull bones showed unusual palpable bony ridges along different sutural locations. A 7-year-old child showed abnormal bulging over the sagittal suture, associated with bilateral bony ridges over the squamosal sutures. AP skull radiograph of a 7-year-old boy with West syndrome showed facial asymmetry with early closure of the metopic suture, and other sutures seemed ill-defined. A 3D reconstruction CT scan of the skull showed early closure of the metopic suture. Another 3D reconstruction CT scan of the skull while the patient was in flexion showed early closure of the squamosal sutures, pressing the brain contents upward, causing the development of a prominent bulge at the top of the mid-sagittal suture. A reformatted 3D reconstruction CT scan confirmed the bilateral closure of the squamosal suture. Examination of the parents revealed a similar skull radiographic abnormality in his mother. A 3D reformatted frontal cranial CT of a 35-year-old mother showed early closure of the metopic and sagittal sutures, causing a mid-sagittal bony bulge. A 10-year-old boy showed an extremely narrow frontal area, facial asymmetry and a well palpable ridge over the lambdoid sutures. A 3D axial reconstruction CT scan of a 10-year-old boy with West syndrome illustrated the asymmetry of the posterior cranial bones along the lambdoid sutures. Interestingly, his 28-year-old mother has been a client at the department of spine surgery since she was 14 years old. A 3D reconstruction CT scan of the mother showed a noticeable bony ridge extending from the metopic suture upwards to involve the sagittal suture (red arrow heads). The black arrow shows a well demarcated bony ridge over the squamosal suture. A 3D reconstruction CT scan of the skull and spine showed the thick bony ridge of the metopic and the anterior sagittal as well as bilateral involvement of the squamosal, causing apparent anterior narrowing of the craniofacial contour. Note the lumbar scoliosis. A 12-year-old boy showed brachycephaly. A lateral skull radiograph of a 12-year-old boy with West syndrome showed premature sutural fusion, begetting an abnormal growth pattern, resulting in cranial deformity. The nature of the deformity depends on which sutures are involved, the time of onset and the sequence in which individual sutures fuse. In this child, brachycephalic secondary to craniosynostosis, which occurred because of bilateral early ossification of the coronal sutures, led to bi-coronal craniosynostosis. Thickened frontal bones and an ossified interclinoid ligament of the sella turcica were encountered. The lateral skull radiograph of a 38-year-old mother with a history of poor schooling achievements showed a very similar cranial contour of brachycephaly, thickening of the frontal bones and massive ossification of the clinoid ligament of the sella turcica. Maternal history revealed a history of multiple spontaneous miscarriages in the first trimester of more than five times. Investigating his parents revealed a brachycephalic mother with borderline intelligence. We affirm that the pattern of inheritance in the three boys was compatible with the X-linked recessive pattern of inheritance. Whole-exome sequencing showed non-definite phenotype/genotype correlation. Conclusions: The aim of this study was sixfold: firstly, to refute the common usage of the term idiopathic; secondly, we feel that it could be possible that West syndrome is a symptom complex rather than a separate diagnostic entity; thirdly, to further detect the genetic carrier, we explored the connection between the cranial bones in children with West syndrome with what has been clinically observed in their parents; fourthly, the early life anatomical disruptions of the cranial bones among these children seem to be heterogeneous; fifthly, it shows that the progressive deceleration in the development of this group of children is highly connected to the progressive closure of the cranial sutures; sixthly, we affirm that our findings are novel. Full article

Fashions in the appearance of purebred dogs and cats are encouraged by celebrity culture, social media, and online impulse buying. The popularity of characteristics perceived as cute, quirky, and anthropomorphic has driven increasingly exaggerated breed features appealing to aesthetics rather than health. ‘Hypertypes’ of some breeds have emerged that take a breed’s distinctive appearance to extremes beyond the intended interpretation of breed standards. This has severe, direct and indirect health and welfare consequences. Extreme conformations are associated with chronic health conditions including brachycephalic obstructive airway disorder, ocular, dental, skin, and musculoskeletal disorders. Puppy and kitten farms and illegal traders that meet the demand for hypertypes are associated with poor husbandry that neglects the physical, behavioral, and mental health of parents and offspring. A multidimensional approach involving collaboration between breeders, geneticists, owners, veterinarians, kennel clubs, cat fanciers’ associations, animal charities, the academic and research communities, commercial enterprises, and governments is needed to safeguard breeds and tackle these challenges. There are many ongoing initiatives by national kennel clubs and global partnerships to educate pet owners and support responsible pet ownership and sustainable breeding. The resounding message is that health, temperament, and well-being must be prioritized over appearance. Full article

Many coat color, behavioral and morphological traits are specific and fixed across cat breeds, with several variants influencing these traits being common among different breeds. In the domestic cat, rexoid mutations have been documented in several breeds. In the Cornish Rex, four bp deletion in the LPAR6 gene has been found to cause a frame shift and a premature stop codon. In addition to the rexoid coat, Cornish Rex cats also have a characteristic head, ear shape and body type. Analysis of the selection signatures in the Cornish Rex genome revealed several regions that are under selective pressure. One of these is located in CFA B4, in the region where the ALX1 gene is located. The ALX1 gene in Burmese cats disrupts the cranial morphogenesis and causes brachycephaly in the heterozygous state. In our study, we confirmed the presence of a deletion in LPAR6 in 20 Cornish Rex and in four F1 hybrids between Cornish Rex and domestic cat. However, we did not confirm the presence of the deletion in ALX1 in Cornish Rex cats. Genome-wide selection signature analysis was performed using ROH islands and integrated haplotype score (iHS) statistics based on publicly available SNP array data of 11 Cornish Rex cats. The selection signatures were detected on chromosomes A1, A3, C2, B1, B4 and D1. Full article

Positional cranial deformities are associated with prematurity evolving during the first 2 years of life due to the malleable characteristics of the skull, the first year being the main/primary therapeutic window for intervention. The objectives were (a) to describe health characteristics, peri- and postnatal pathologies, and positional cranial deformities in infants enrolled in an early intervention program and (b) to analyze the effects of a parent education-based intervention program on positional cranial deformity in premature infants. A quantitative, analytical, longitudinal study was conducted. It included 103 premature infants enrolled in an early intervention program (EIP) during the year 2017, all under 4 months of corrected age, to whom a parent education-based intervention program was applied. Cranial circumference, cranial width, diagonals, and anteroposterior diameter were measured, and the cranial asymmetry index (CAI) and cephalic index (CI) were calculated at baseline and during two subsequent evaluations separated by a 3-month period. The main results showed that 75.7% of the infants belonged to a very premature gestational age category, and 57.3% had an adequate weight for gestational age. The most frequent pathologies were premature jaundice, premature anemia, and hyaline membrane disease. The most frequent positional cranial deformity was plagiocephaly. The parent education-based intervention program resulted in (1) a significant decrease in the CAI and a significant increase in the IC, (2) plagiocephalies: an increase in the mild category and a decrease in the moderate + severe categories, (3) brachycephalies: a decrease in the absence category and an increase in the moderate + severe category, and (4) dolichocephalies: an increase in the absence category and a decrease in the mild category. In conclusion, the recommended first line of intervention was not enough for this population, and future studies should support the development of national clinical guidelines, where education is complemented with other therapeutic measures. Full article

Brachycephalic obstructive airway syndrome (BOAS) in dogs challenges veterinary surgeons both with a complex clinical picture as well as wide-ranging ways to diagnose the disease, often not easily implemented nor standardised in clinical practice. The assessment of a combination of exercise testing, the occurrence of breathing noises, recovery time, and respiratory effort proved to be an appropriate method to identify Pugs with BOAS. The purpose of this study was to apply an established standardised, submaximal, treadmill-based fitness test for Pugs to other brachycephalic dog breeds. A total of 79 participants, belonging to 6 different brachycephalic breeds, trotted 15 min with an individual comfort speed of 3–7 km/h on a treadmill. Additionally, functional BOAS grading based on respiratory clinical signs before and after exercise was applied. The test was passed if the dogs presented with a BOAS grade of 0 or 1 and their vital parameters recovered to baseline within 15 min after exercise. A total of 68% showed a BOAS grade of 0 or 1 and passed the fitness test. Of the failed participants, 65% failed due to BOAS affectedness, 9% were categorised as not affected by BOAS and failed due to not passing the fitness test only, and 26% showed both failure criteria. The fitness test can be a useful method to identify BOAS-affected dogs in other brachycephalic breeds and to diagnose BOAS in dogs that only show clinical signs under exercise. Full article