Skull Malformations Research Articles

Cranial Investigations of Crested Porcupine (Hystrix cristata) by Anatomical Cross-Sections and Magnetic Resonance Imaging.

This paper aimed to describe an atlas of the crested porcupine (Hystrix cristata) head by applying advanced imaging techniques such as MRI. Furthermore, by combining the images acquired through these techniques with anatomical sections, we obtained an adequate description of the structures that form the CNS and associated structures of this species. This anatomical information could serve as a valuable diagnostic tool for the clinical evaluation of different pathological processes in porcupines, such as abscesses, skull malformations, fractures, and neoplasia.

Anatomical Description of Rhinoceros Iguana (Cyclura cornuta cornuta) Head by Computed Tomography, Magnetic Resonance Imaging and Gross-Sections.

In this paper, we attempted to elaborate on an atlas of the head of the rhinoceros iguana, applying modern imaging techniques such as CT and MRI. Furthermore, by combining the images acquired through these techniques with macroscopic anatomical sections, we obtained an adequate description of the relevant structures that form the head of this species. This anatomical information could provide a valuable diagnostic tool for the clinical evaluation of different pathological processes in iguanas such as abscesses and osteodystrophy secondary to nutrient imbalances, skull malformations, fractures, and neoplasia.

Brachycephaly in French bulldogs and pugs is associated with narrow ear canals

Brachycephalic dog breeds have multiple skull malformations which may lead to anatomical changes in the external auditory canal. It is our frequent observation that in the otoscopic examination of the external ear in these breeds we are unable to visualise the tympanic membrane as a consequence of extreme narrowing of the proximal ear canal. Additionally brachycephalic dogs reportedly are predisposed to otitis externa (OE) and otitis media. To characterizse the transition of the cartilaginous ear canal to the bony meatus acusticus externus using computed tomography (CT) and to investigate a possible association with OE in brachycephalic dogs. Seventy-five client-owned dogs [pugs (n = 20), French bulldogs (n = 55)] were included and assessed for OE using an owner questionnaire and otoscopic and cytological examinations. In dorsal plane CT scans, the diameter of the porus acusticus externus was measured using novel methodology. The results were compared with a normocephalic control group without preexisting otological disorders. Brachycephalic dogs had a significantly smaller porus acusticus externus diameter (2.6 mm) than normocephalic dogs (5.0 mm). Of the brachycephalic dogs, 32% had OE yet this was not statistically significantly related to the diameter of the porus acusticus externus. Middle ear effusion (44%) and narrowing of the external ear canal (82.6%) were significantly more frequent in brachycephalic dogs. Only five of 150 eardrums could be visualised otoscopically. Malformation of the porus acusticus externus causes severe stenosis of the proximal ear canal in brachycephalic dogs. A connection between stenosis of the external auditory canal and OE could not be confirmed.

Socioeconomic and demographic factors in the diagnosis and treatment of Chiari malformation type I and syringomyelia.

The goal of this study was to assess the social determinants that influence access and outcomes for pediatric neurosurgical care for patients with Chiari malformation type I (CM-I) and syringomyelia (SM). The authors used retro- and prospective components of the Park-Reeves Syringomyelia Research Consortium database to identify pediatric patients with CM-I and SM who received surgical treatment and had at least 1 year of follow-up data. Race, ethnicity, and insurance status were used as comparators for preoperative, treatment, and postoperative characteristics and outcomes. A total of 637 patients met inclusion criteria, and race or ethnicity data were available for 603 (94.7%) patients. A total of 463 (76.8%) were non-Hispanic White (NHW) and 140 (23.2%) were non-White. The non-White patients were older at diagnosis (p = 0.002) and were more likely to have an individualized education plan (p < 0.01). More non-White than NHW patients presented with cerebellar and cranial nerve deficits (i.e., gait ataxia [p = 0.028], nystagmus [p = 0.002], dysconjugate gaze [p = 0.03], hearing loss [p = 0.003], gait instability [p = 0.003], tremor [p = 0.021], or dysmetria [p < 0.001]). Non-White patients had higher rates of skull malformation (p = 0.004), platybasia (p = 0.002), and basilar invagination (p = 0.036). Non-White patients were more likely to be treated at low-volume centers than at high-volume centers (38.7% vs 15.2%; p < 0.01). Non-White patients were older at the time of surgery (p = 0.001) and had longer operative times (p < 0.001), higher estimated blood loss (p < 0.001), and a longer hospital stay (p = 0.04). There were no major group differences in terms of treatments performed or complications. The majority of subjects used private insurance (440, 71.5%), whereas 175 (28.5%) were using Medicaid or self-pay. Private insurance was used in 42.2% of non-White patients compared to 79.8% of NHW patients (p < 0.01). There were no major differences in presentation, treatment, or outcome between insurance groups. In multivariate modeling, non-White patients were more likely to present at an older age after controlling for sex and insurance status (p < 0.01). Non-White and male patients had a longer duration of symptoms before reaching diagnosis (p = 0.033 and 0.004, respectively). Socioeconomic and demographic factors appear to influence the presentation and management of patients with CM-I and SM. Race is associated with age and timing of diagnosis as well as operating room time, estimated blood loss, and length of hospital stay. This exploration of socioeconomic and demographic barriers to care will be useful in understanding how to improve access to pediatric neurosurgical care for patients with CM-I and SM.

Advances in the Study of Upper Airway Characteristics in Children with Malocclusion

Malocclusion is the malformation of teeth, jaw and skull caused by congenital genetic factors or acquired environmental factors in the process of children's growth and development, such as diseases, bad oral habits, abnormal substitute teeth, such as irregular arrangement of teeth, abnormal relationship between upper and lower dental arch, abnormal jaw size and shape, etc. Malocclusion is also accompanied by respiratory diseases and dysfunction, such as obstructive sleep apnea (OSA). Conversely, abnormal occlusion also leads to respiratory tract developmental disorders and dysfunction. The cranio-maxillofacial morphology is closely related to the upper airway morphology. They are cause and effect each other. In recent years, it has been found that orthodontic treatment can not only improve the malocclusion, but also has a significant effect on the upper airway volume. The abnormal upper airway in childhood will affect children's breathing, cause children's sleep apnea, and affect children's growth and development. At the same time, with the development of society, we pay more attention to children's face. Therefore, at present, the upper airway morphological characteristics, influencing factors and correction methods of malocclusion have become the focus of research.

An Open Cranial Vault Remodeling Procedure for Craniosynostosis: A Retrospective Study

AbstractCraniosynostosis is a skull malformation occurring due to the premature fusion of one or more cranial sutures. This pathological entity is a relatively commonly observed congenital malformation and is reportedly seen in 1/1,700–1,900 live births. The study aimed to evaluate the surgical outcomes of the open cranial vault remodeling (OCVR) in children with craniosynostosis.Medical records of 76 children with craniosynostosis who were diagnosed at the neurosurgery departments of our centers for 11 years (from January 2010 to December 2020) were retrospectively examined. Among them, 54 consecutive children who underwent OCVR were included in this study. Surgical outcomes were discussed with a related literature review.Fifty-four (32 males and 22 females) consecutive children received OCVR for craniosynostosis with a mean age of 12.6 ± 7.1 months. Eight children were syndromic. Three children were shunt-induced craniosynostosis. Syndromic children were four with Apert, two with Pfeiffer, and two with Crouzon syndrome. Twelve children were brothers/sisters. The misshapen skull was the most commonly recorded symptom in 49 children (90.7%). The most affected sutures were bicoronal craniosynostosis found in 20 children. The complication rate was 9.3% (n = 5). Two of these five children needed reoperation for optimal remodeling. One child died postoperatively in the intensive care unit due to cardiac arrest.These findings demonstrated that the OCVR approach is an efficient surgical method to get good outcomes. Satisfactory results with an acceptable complication rate can be obtained with expert hands. Further studies are warranted to support these findings.

Anthropometric Cranial Measurements in Metopic Craniosynostosis/Trigonocephaly: Diagnostic Criteria, Classification of Severity and Indications for Surgery.

Metopic craniosynostosis is the second most frequent type of craniosynostosis. When the phenotypic presentation has been deemed severe the treatment is surgical in nature and is performed in infancy with fronto-orbital advancement and cranial vault remodeling. At the time of this writing, there is no consensus regarding an objective evaluation system for severity, diagnostic criteria, or indications for surgery. This study aims to review the anthropometric cranial measurements and the relative diagnostic criteria/classification of severity/surgical indications proposed so far for this skull malformation, and to investigate if there is any scientific support for their utility.

Developmental Delay in Infants With Positional Skull Deformity

Research Article| July 01 2021 Developmental Delay in Infants With Positional Skull Deformity AAP Grand Rounds (2021) 46 (1): 4. https://doi.org/10.1542/gr.46-1-4 Views Icon Views Article contents Figures & tables Video Audio Supplementary Data Peer Review Share Icon Share MailTo Twitter LinkedIn Tools Icon Tools Get Permissions Cite Icon Cite Search Site Citation Developmental Delay in Infants With Positional Skull Deformity. AAP Grand Rounds July 2021; 46 (1): 4. https://doi.org/10.1542/gr.46-1-4 Download citation file: Ris (Zotero) Reference Manager EasyBib Bookends Mendeley Papers EndNote RefWorks BibTex toolbar search toolbar search search input Search input auto suggest filter your search All PublicationsAll JournalsAAP Grand RoundsPediatricsHospital PediatricsPediatrics In ReviewNeoReviewsAAP NewsAll AAP Sites Search Advanced Search Topics: developmental delay, plagiocephaly, skull malformation Source: Rohde JF, Goyal NK, Slovin SR, et al. Association of positional plagiocephaly and developmental delay within a primary care network. J Dev Behav Pediatr. 2021;42(2):128-134; doi: https://doi.org/10.1097/DBP.0000000000000860Google Scholar Investigators from Nemours/Alfred I. DuPont Hospital for Children, Wilmington, DE, conducted a retrospective study to assess the association between plagiocephaly and developmental delay among a cohort of children seen in primary care offices and the relative timing of plagiocephaly and developmental delay. For the study, they reviewed data obtained from 45 primary care sites within a single health care system and abstracted data on patients <5 years old who had a first primary care office visit by the age of 12 months between 2000 and 2017. Children with a plagiocephaly diagnosis by 12 months were identified by ICD-9 and ICD-10 codes. Controls were patients seen by 12 months without a diagnosis of plagiocephaly. Data on demographics, history of prematurity, and diagnoses of abnormal tone and torticollis also were abstracted. The primary study outcome was a diagnosis of developmental delay, identified with ICD-9 and ICD-10 codes, assigned by a primary care provider. Secondary outcomes included diagnoses of specific types of developmental delay. The dates of first diagnosis of plagiocephaly and developmental delay were obtained. The association between demographic and clinical characteristics and plagiocephaly was assessed with chi-square or Fisher exact tests. Logistic regression was used to determine if plagiocephaly was independently associated with developmental delay and specific types of delay. Data were analyzed on 77,108 children, including 2,315 (3.0%) diagnosed with plagiocephaly by the age of 12 months. The median age of diagnosis was 3 months. Children diagnosed with plagiocephaly were significantly more likely to be male, white, have private insurance, and to have been born prematurely than controls (all P values <0.001). Diagnoses of abnormal tone (P <0.001) and torticollis (P <0.001) also were significantly associated with plagiocephaly. Developmental delay was diagnosed in 404 (17.5%) of those with plagiocephaly and 6,492 (8.7%) of controls. After controlling for confounding variables, plagiocephaly was independently associated with developmental delay (odds ratio [OR], 1.50; 95% confidence interval [CI], 1.32, 1.70). Among specific types of developmental delay, plagiocephaly was associated with an increased odds for motor delay (OR, 1.67; 95% CI, 1.29, 2.16), language delay (OR, 1.35; 95% CI, 1.17, 1.56), and general delay (OR, 1.77; 95% CI, 1.39, 2.24), but not social delay (OR, 2.72; 95% CI, 0.87, 8.50) or cognitive delay (OR, 0.36; 95% CI, 0.11, 1.23). The diagnosis of plagiocephaly preceded that of developmental delay in 374 of 406 children (92.6%) with both conditions. The authors conclude that among a cohort of children seen in primary care offices there was an association between plagiocephaly and developmental delay. Dr Badawi has disclosed no financial relationship relevant to this commentary. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device. Deformational plagiocephaly and brachycephaly result from prolonged forces applied to the back... You do not currently have access to this content.

Multimodal Simulation of a Novel Device for a Safe and Effective External Ventricular Drain Placement.

BackgroundExternal ventricular drain (EVD) placement is mandatory for several pathologies. The misplacement rate of the EVD varies widely in literature, ranging from 12.3 to 60%. The purpose of this simulation study is to provide preliminary data about the possibility of increasing the safety of one of the most common life-saving procedures in neurosurgery by testing a new device for EVD placement.MethodsWe used a novel guide for positioning the ventricular catheter (patent RM2014A000376). The trajectory was assessed using 25 anonymized head CT scans. The data sets were used to conduct three-dimensional computer-based and combined navigation and augmented reality-based simulations using plaster models. The data set inclusion criteria were volumetric head CT scan, without midline shift, of patients older than 18. Evans’ index was used to quantify the ventricle’s size. We excluded patients with slit ventricles, midline shift, skull fractures, or complex skull malformations. The proximal end of the device was tested on the cadaver.ResultsThe cadaveric tests proved that a surgeon could use the device without any external help. The multimodal simulation showed Kakarla grade 1 in all cases but one (grade 2) on both sides, after right and left EVD placement. The mean Evans’ index was 0.28. The geometric principles that explain the device’s efficacy can be summarized by studying the properties of circumference and chord. The contact occurs, for each section considered, at the extreme points of the chord. Its axis, perpendicular to the plane tangent to the spherical surface at the entry point, corresponds to the direction of entry of the catheter guided by the instrument.ConclusionAccording to our multimodal simulation on cadavers, 3D computer-based simulation, 3D plaster modeling, 3D neuronavigation, and augmented reality, the device promises to offer safer and effective EVD placement. Further validation in future clinical studies is recommended.

NEUROIMAGING DATA OF THE STUDY OF THE CHIASMAL-SELLAR REGION STRUCTURES

NEUROIMAGING DATA OF THE STUDY OF THE CHIASMAL-SELLAR REGION STRUCTURES

When a Baby’s Head Is Misshapen: Positional Skull Deformities

Patient Education| 2021 When a Baby’s Head Is Misshapen: Positional Skull Deformities Connected Content Translation: Cuando la cabeza de un bebé se deforma: deformidad craneal postural Views Icon Views Article contents Figures & tables Video Audio Supplementary Data Share Icon Share Facebook Twitter LinkedIn Tools Icon Tools Get Permissions Cite Icon Cite Search Site Citation When a Baby’s Head Is Misshapen: Positional Skull Deformities. Pediatric Patient Education 2021; 10.1542/peo_document227 Download citation file: Ris (Zotero) Reference Manager EasyBib Bookends Mendeley Papers EndNote RefWorks BibTex toolbar search nav search search input Search input auto suggest search filter All AAP SitesAll PublicationsPediatric Patient Education Search Advanced Search Topics: cranium, skull malformation, torticollis, sleep, back, vagina, early intervention (education) When a baby spends a lot of time in one position, it can cause the shape of their head to change. This is called a positional skull deformity. For about 20% of babies, a positional skull deformity occurs when they are in the womb or in the birth canal. More often, it happens in the first 4 to 12 weeks of life. This is when babies are not able to sit up or move on their own. By 6 months of age, many babies become more mobile and can turn their heads on their own more regularly. A baby’s skull has soft, bony plates that haven’t yet fused together. The bony plates can move a bit, which helps the baby’s head to pass through the birth canal. The plates also allow room for the brain to grow during the first year... © 2020 American Academy of Pediatrics. All rights reserved. You do not currently have access to this content.

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses.

BackgroundDefects in the development of the first and second pharyngeal arches and their derivatives result in abnormal formation of the craniofacial complex, consequently giving rise to facial dysostoses (FDs). FDs represent a group of rare and highly heterogeneous disease entities that encompass mandibulofacial dysostoses (MFDs) with normal extremities and acrofacial dysostoses (AFDs) with limb anomalies in addition to craniofacial defects.MethodsWe examined 11 families with variable clinical symptoms of FDs, in most of which only one member was affected. We applied two custom gene panels—first comprising 37 genes related to the genetic disorders of craniofacial development such as FDs (On-Demand AmpliSeq Thermo Fisher Scientific gene panel with two primer pools) and second composed of 61 genes and 11 single nucleotide variants (SNVs) known to be involved in the development of skull malformations, mainly in the form of craniosynostoses (SureSelect Agilent Technologies). Targeted next-generation sequencing (NGS) was performed using the Ion Torrent S5 platform. To confirm the presence of each detected variant, we have analyzed a genomic region of interest using Sanger sequencing.ResultsIn this paper, we summarized the results of custom targeted gene panel sequencing in the cohort of sixteen patients from 11 consecutive families affected by distinct forms of FDs. We have found three novel pathogenic variants in the TCOF1 gene—c.2145_2148dupAAAG p.(Ser717Lysfs∗42), c.4370delA p.(Lys1457Argfs∗118), c.83G>C p.(Arg28Pro) causing Treacher Collins syndrome type 1, two novel missense variants in the EFTUD2 gene–c.491A>G p.(Asp164Gly) and c.779T>A p.(Ile260Asn) in two female patients affected by acrofacial dysostosis Guion-Almeida type, one previously reported–c.403C>T (p.Arg135Cys), as well as one novel missense variant–c.128C>T p.(Pro43Leu) in the DHODH gene in the male patient with Miller syndrome and finally one known pathogenic variant c.574G>T p.(Glu192∗) in the SF3B4 gene in the patient with Nager syndrome.ConclusionOur study confirms the efficiency and clinical utility of the targeted gene panel sequencing and shows that this strategy is suitable and efficient in the molecular screening of variable forms of FDs.

Racial Disparity Between Asian and Caucasian Crouzon Syndrome in Skull Morphology.

Racial disparity in pathological consequences in skull growth may impact the treatment plan for different patient populations. This study attempts to explore the differences between Asian and Caucasian cranial morphology in Crouzon syndrome. Ninety-one computed tomographic scans were included (Asian Crouzon syndrome, n = 12; Asian controls, n = 22; Caucasian Crouzon syndrome, n = 16; Caucasian controls, n = 41), and measured using Mimics and 3-matics software. The entire cranial base length was reduced 11.92 mm (P = 0.004) in Asian Crouzon patients, and 14.58 mm (P < 0.001) in Caucasian Crouzon patients, compared to respective controls. The cranial base angle on the facial side of basicranium was more narrowed in Crouzon syndrome in both races, with similar changes of degrees (9.61°, P = 0.002, in Asian Crouzon; 9.20°, P = 0.019, in Caucasian Crouzon). However, the intracranial side was statistically more narrowed only in the Asian group (9.86°, P = 0.003). Both Asian and Caucasian Crouzon patients developed reduced posterior fossa volume, by 15% (P = 0.034) and 17% (P = 0.004), respectively. However, Caucasian Crouzon patients developed a more shortened anterior and middle cranial base, than that of Asian patients. The separation of lateral pterygoids was only significantly increased in Caucasian patients (5.49°, P < 0.001). Crouzon syndrome causes a shortened, widened, and kyphotic cranial base across both races. It also restricts the development of the posterior cranial fossa. However, the skull malformation is not the same between populations: Asian Crouzon patients developed more narrowed cranial base angulation on the intracranial side of basicranium, while Caucasian Crouzon patients developed more widened lateral pterygoids.

A novel therapeutic hypothesis for craniosynostosis syndromes: Clover to clever

Cloverleaf skull is a complex skull deformity named after its cloverleaf shape. The primary pathogenic factor is craniosynostosis.Craniosynostosis could result in limited development of skull, brain, maxillofacial and nervous system, thus arising a series of complex syndromes, including Crouzon, Apert, Pfeiffer, Saethre-Chotzen and Muenke syndromes.Craniosynostosis syndromes exhibit a group of similar symptoms because of the mutual cause, craniosynostosis, with Crouzon syndrome being the most common one.At present, the surgical approach for Craniosynostosis syndromes has been established and generally accepted, including a series of surgical interventions in stages according to patients’ age, severity and function of skull malformation. It's a large, complex, long time span deformity correcting procedure with formidable limitations, including high risk, expensive cost, quantity shortage of qualified surgeons and unsatisfactory successful rate for complicated cases. Hence, a new nonsurgical therapy for patients with craniosynostosis syndromes is seriously needed.A concept of Dynamic Cranial Suture Management (DCSM) was introduced. It includes objective and evaluable monitoring tools and craniosynostosis patent modifying drugs or medications tools which consist of regulatory factors for osteoclasts, osteoblasts and mesenchymal stem cells. By using these tools alternatively in different skull developing stages, DCSM is designed to prevent craniosynostosis.A Crouzon syndrome case was also presented.

Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review

BackgroundHajdu-Cheney syndrome (HCS) is a rare inherited skeletal disorder caused by pathogenic mutations in exon 34 of NOTCH2. Its highly variable phenotypes make early diagnosis challenging. In this paper, we report a case of early-onset HCS with severe phenotypic manifestations but delayed diagnosis.Case presentationThe patient was born to non-consanguineous, healthy parents of Chinese origin. She presented facial anomalies, micrognathia and skull malformations at birth, and was found hearing impairment, congenital heart disease and developmental delay during her first year of life. Her first visit to our center was at 1 year of age due to cardiovascular repair surgery for patent ductus arteriosus (PDA) and ventricular septal defect (VSD). Skull X-ray showed wormian bones. She returned at 7 years old after she developed progressive skeletal anomalies with fractures. She presented with multiple wormian bones, acro-osteolysis, severe osteoporosis, bowed fibulae and a renal cyst. Positive genetic test of a de novo heterozygous frameshift mutation in exon 34 of NOTCH2 (c.6426dupT) supported the clinical diagnosis of HCS.ConclusionThis is the second reported HCS case caused by the mutation c.6426dupT in NOTCH2, but presenting much earlier and severer clinical expression. Physicians should be aware of variable phenotypes so that early diagnosis and management may be achieved.

Meningocele and Meningoencephalocele in Piglets: Pathologic and Imaging Aspects

Background: Meningocele and meningoencephalocele are rare congenital deformities characterized by herniation of the meninges and of the meninges and brain tissue through a bone defect in the skull (cranioschisis), respectively. Descriptions of these malformations in pigs are scarce in the international literature and non-existent in Brazil, with only one case of cranioschisis with brain exposure (without protrusion of the meninges and covered by skin) reported to date. Here, we report a case of meningocele and another of meningoencephalocele in piglets in the state of Bahia and describe the main related anatomopathological and imaging characteristics (radiographic and ultrasonographic).Case: The congenital malformations occurred in newborn piglets from a farm located in the city of Catu, Bahia, Brazil, which presented with an evident large saccular area positioned dorsally to the head. The animals died 48 h after birth and were referred to the Laboratory of Animal Pathology of the Federal University of Bahia, for the studies and diagnostic conclusion. Postmortem ultrasound examinations showed that the region was filled with fluid and associated with a small brain protrusion in case 1 and a defect in the skull bone, which had its orifice dimensions estimated. Despite the superimposition of structures, the skull malformation was identified on radiographic examination (case 1) and measured on ultrasonographic examination (cases 1 and 2). During necropsy, the piglets presented with a marked marked bulge of saccular appearance under the skin in the frontal region. The saccular formation was floating, internally covered by dura mater and filled with reddish serous liquid (liquor).Discussion: The diagnoses of meningoencephalocele and meningocele in newborn piglets were established based on morphological changes identified on ultrasound and necropsy. Although the ultrasound diagnosis of meningocele and meningoencephalocele are routinely made in human medicine, they are still limited in veterinary medicine in cases of malformations in production animals, with no case report in pigs. A Brazilian textbook on pig diseases cites these diseases among the main malformations that affect this species, although data on epidemiology and anatomopathological and imaging findings are not described, which highlights the importance of this study. As for the etiology of these malformations, the occurrence of two cases in piglets from the same farm in the present report may suggest the presence of genetic factors. The confirmation that inbreeding is common at farms where the cases occurred, and absence of herd renewal since 2014 (continuous use of the same breeders), reinforced this hypothesis, since inbreeding results in serious reproductive and productive disorders due to increased homozygosis and, consequently, due to the frequency of genotypes with recessive genes that cause various malformations in animals. This fact reinforces the need to make producers aware of the importance of avoiding inbreeding and the use of breeders that have generated malformed piglets to reduce the frequency of malformations. Additional studies on congenital malformations in pigs in Brazil are necessary because of the scarcity of existing data, particularly regarding the etiology and anatomopathological and imaging characteristics of these diseases.

Cone-Beam Computed Tomography Incidental Findings in Individuals With Cleft Lip and Palate.

The use of cone-beam computed tomography (CBCT) is well-established in clinical practice. This study seeks to categorize and quantify the incidental finding (IF) rate on CBCT in patients with cleft lip and palate (CLP) prior to orthodontic or surgical treatment. This is systematic retrospective review of head and neck CBCTs in patients with nonsyndromic CLP taken between 2012 and 2019 at a single tertiary referral center. All assessments were performed independently by 4 observers (a head and neck radiologist and 3 orthodontists, including 2 fellowship-trained cleft-craniofacial orthodontists ). The images were divided into 9 anatomical areas and screened using serial axial slices and 3D reconstructions. The absolute number of IFs was reported for each area and statistical analysis was performed. Incidental findings were found in 106 (95.5%) of the 111 patients. The most common sites were the maxilla (87.4%, principally dental anomalies), paranasal sinuses (46.8%, principally inflammatory opacification), and inner ear cavities (18.9%, principally inflammatory opacification). Eleven patients had skull malformations. Thirty-three patients had IFs in 1 anatomical area, 49 patients in 2 anatomical areas, 19 patients in 3 areas, and 5 patients presented with IFs in 4 of the 9 anatomical areas. In patients with CLP, IFs on CBCT exam were present in the majority of cases. Most patients with IFs had them in multiple anatomical areas of the head and neck. The maxillary dental-alveolar complex was the most common area. Inflammatory changes in the inner ear cavities and paranasal sinuses were also common; however, cervical spine and skull abnormalities were also identified. Clinicians caring for patients with CLP should be aware of IFs, which may warrant further investigation and treatment.

Editor's Note

Editor's Note

ZIC1 Function in Normal Cerebellar Development and Human Developmental Pathology.

Zic genes are strongly expressed in the cerebellum. This feature leads to their initial identification and their name "zic," as the abbreviation of "zinc finger protein of the cerebellum." Zic gene function in cerebellar development has been investigated mainly in mice. However, association of heterozygous loss of ZIC1 and ZIC4 with Dandy-Walker malformation, a structural birth defect of the human cerebellum, highlights the clinical relevance of these studies. Two proposed mechanisms for Zic-mediated cerebellar developmental control have been documented: regulation of neuronal progenitor proliferation-differentiation and the patterning of the cerebellar primordium. Clinical studies have also revealed that ZIC1 gain of function mutations contribute to coronal craniosynostosis, a rare skull malformation. The molecular pathways contributing to these phenotypes are not fully explored; however, embryonic interactions with sonic hedgehog signaling, retinoic acid signaling, and TGFβ signaling have been described during mouse cerebellar development. Further, Zic1/2 target a multitude of genes associated with cerebellar granule cell maturation during postnatal mouse cerebellar development.

A RARE CASE OF NEONATAL APERT SYNDROME

Apert syndrome is a rare Type I acrocephalosyndactyly syndrome. It is a congenital disorder characterized by premature fusionof cranial sutures (craniosynostosis), malformation of skull, hands, face, and feet. Apert syndrome has an incidence of 1/50,000to 1/80,000 live births. It is classified as a branchial arch syndrome, affecting the first branchial or pharyngeal arch, the precursorof the maxilla and mandible. Disturbances in the development of branchial arches in the fetal development create lasting andwidespread effects. It is inherited as an autosomal dominant and occurs due to the gene mutations in the receptors of the fibroblastgrowth factor. Management of Apert syndrome requires multidisciplinary approach. We, hereby, report a case of a 5‑h‑old neonatewith Apert syndrome.