The Discovery of a Bone in the Anterior Fontanelle of the Skull of the Sheep (Ovis aries) / Descubrimiento de un Hueso en la Fontanela Anterior del Cráneo de la Oveja (Ovis aries)

SUMMARY: A comparative study of the skull morphology was conducted using 270 prenatal and 750 postnatal skull samples from three breeds of sheep in Nigeria namely, Balami, Uda and Yankasa. A unique bone peculiar to the Yankasa breeds of sheep was found consistently at the centre of the anterior fontanelle in the young (day-old to 1 year). At two years of age and above, the bone was fused and disappeared completely. This brings the total numbers of the neurocranium bones of the skull in the Yankasa breeds to 8, as against the 7 bones documented in the ovine species. Due to the fact that this bone has not been described in the literature, we venture to name it the anterio-fontanelle bone (of Atabo).

Se realizó un estudio comparativo de la morfología del cráneo utilizando 270 muestras de cráneos prenatales y 750 postnatales de tres razas de ovejas en Nigeria, Balami, Uda y Yankasa. Un hueso único peculiar de las razas de ovejas Yankasa se encontró consistentemente en el centro de la fontanela anterior en las crías (de un día a 1 año). A los dos años de edad o más, el hueso se fusionó y desapareció por completo. Esto eleva el número total de huesos del neurocráneo en el cráneo en las razas Yankasa a 8, frente a los 7 huesos documentados en la especie ovina. Debido a que este hueso no ha sido descrito en la literatura, nos aventuramos a denominarlo hueso antero-fontanela (de Atabo).

Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations

Abstract Cleidocranial dysplasia (CCD) is a skeletal disorder affecting cranial sutures, teeth, and clavicles, and is associated with the RUNX2 mutations. Although numerous patients have been described, a direct genotype-phenotype correlation for RUNX2 has been difficult to establish. Further cases must be studied to understand the clinical and genetic spectra of CCD. Objectives To characterize detailed phenotypes and identify variants causing CCD in five unrelated patients and their family members. Methodology Clinical and radiographic examinations were performed. Genetic variants were identified by exome and Sanger sequencing, data were analyzed by bioinformatics tools. Results Three cases were sporadic and two were familial. Exome sequencing successfully detected the heterozygous pathogenic RUNX2 variants in all affected individuals. Three were novel, comprising a frameshift c.739delA (p.(Ser247Valfs*)) in exon 6 (Patient-1), a nonsense c.901C>T (p.(Gln301*)) in exon 7 (Patient-2 and affected mother), and a nonsense c.1081C>T (p.(Gln361*)) in exon 8 (Patient-3). Two previously reported variants were missense: the c.673C>T (p.(Arg225Trp)) (Patient-4) and c.674G>A (p.(Arg225Gln)) (Patient-5) in exon 5 within the Runt homology domain. Patient-1, Patient-2, and Patient-4 with permanent dentition had thirty, nineteen, and twenty unerupted teeth, respectively; whereas Patient-3 and Patient-5, with deciduous dentition, had normally developed teeth. All patients exhibited typical CCD features, but the following uncommon/unreported phenotypes were observed: left fourth ray brachymetatarsia (Patient-1), normal clavicles (Patient-2 and affected mother), phalangeal malformations (Patient-3), and normal primary dentition (Patient-3, Patient-5). Conclusions The study shows that exome sequencing is effective to detect mutation across ethnics. The two p.Arg225 variants confirm that the Runt homology domain is vital for RUNX2 function. Here, we report a new CCD feature, unilateral brachymetatarsia, and three novel truncating variants, expanding the phenotypic and genotypic spectra of RUNX2 , as well as show that the CCD patients can have normal deciduous teeth, but must be monitored for permanent teeth anomalies.

Evaluación tomográfica de la fontanela anterior de pacientes pediátricos en la ciudad de Quito / Tomographic evaluation of the anterior fontanelle in pediatric patients in the Quito city

INTRODUCCIÓN. La evaluación del tamaño y osificación de las suturas craneales pudo determinar alteraciones del desarrollo cerebral. El estudio realizó la evaluación tomográfica del tamaño de la fontanela anterior y determinó el porcentaje de osificación en función de la edad. MATERIALES Y MÉTODOS. Se realizó un estudio retrospectivo, observacional, en el que se evaluó 367 tomografías computarizadas de cráneo en niños y niñas hasta 2 años de edad, desde enero de 2012 hasta agosto de 2015, en cuatro centros de imagen de la ciudad de Quito, Ecuador. RESULTADOS. El tamaño promedio de la fontanela anterior medida en tomografía computarizada con la fórmula de Popich y Smith, fue de 48,43 mm SD (15,15mm) en hombres y 37,36mm SD (13,97mm) en mujeres, en el grupo de edad de 0 a 3 meses, sin diferencia estadística significativa (p=> 0,05). El 8,0% de los pacientes tuvo una fontanela osificada a la edad de 5 meses. La edad media de osificación de la fontanela fue 18 meses. En el grupo de edad de 21 a 24 meses el porcentaje de osificación fue de 82,0%. CONCLUSIÓN. Este estudio proporcionó valores de referencia que detallaron el porcentaje de tamaño y osificación de la fontanela anterior en función de la edad. Existió amplia variabilidad del tamaño medio de la fontanela anterior, lo cual sugiere que el cierre prematuro o tardío podría considerarse como variantes de la normalidad.

INTRODUCTION. The evaluation of the size and ossification of the cranial sutures could determine alterations in brain development. The study performed the tomographic evaluation of the size of the previous source and determined the percentage of ossification in the function of age. MATERIALS AND METHODS. A retrospective, observational study was conducted in which 367 cranial CT scans were evaluated in children up to 2 years of age, from January 2012 to August 2015, in four imaging centers in the city of Quito, Ecuador. RESULTS The average size of the previous source in computed tomography with the formula of Popich and Smith was 48,43 mm SD (1515 mm) in men and 37,36 mm SD (13,97 mm) in women, in the group of age from 0 to 3 months, without significant statistical difference (p=> 0.05). 8,0% of patients had a source after 5 months. The average age of the source of the source was 18 months. In the age group from 21 to 24 months, the percentage of ossification was 82,0%. CONCLUSIONS This study provides reference values that detail the percentage of size and the classification of the previous source in the function of age. There is wide variability of the average size of the previous source, which implies premature closure or possible delay as variants of normality.

Anatomy of accessory maxillary sinus ostium with clinical application.

Background: The “osteomeatal complex” of the middle meatus is a group of anatomical structures that includes; principle maxillary sinus ostium and accessory maxillary sinus ostium. Its beauty lies in its complexity. This osteomeatal complex contributes to the final common drainage pathway of maxillary, anterior ethmoidal and frontal sinuses. Principle maxillary sinus ostium (PMO) is universally present in all population while if extra opening is present in addition to principle maxillary sinus ostium then this is called accessory maxillary sinus ostium. The principle maxillary sinus ostium is opened in the Hiatus semilunaris and it is located on the highest part of medial wall of maxillary sinus as compared to accessory maxillary sinus ostium. Accessory maxillary sinus ostium located in the anterior nasal fontanelle (ANF), posterior nasal fontanelle (PNF), and hiatus semilunaris. Aims & Objective: The endoscopic sinus surgeons must have a detailed knowledge of inconsistent situation of principle maxillary sinus ostium (PMO) and accessory maxillary sinus ostium as there are important structures like orbit superiorly and nasolacrimal duct medially lying adjacent to medial wall of maxillary sinus where above said openings are situated. Materials and Methods: This study was carried out in the department of Anatomy of government medical college, Surat and Surat municipal institute of medical education and research (SMIMER) where 54 cadaveric heads were cut in midsagital section into 108 half heads and then incidence, location and side of accessory maxillary ostium was studied. Results: Among 108 half heads, accessory maxillary ostium was found in 20 (18.5%) half heads. Out of these 20 half heads, in 12 (60%) half heads accessory maxillary sinus ostium is present on right side while in remaining 8 (40%) half heads, it is on the left side. Similarly out of these 20 half heads, 16 (80%) half heads shows unilateral accessory maxillary sinus ostium either on right side or on left side while 4 (20%) half heads shows bilateral accessory maxillary sinus ostium. Out of these 20 half heads, 7 (35%) half heads shows double AMO (which includes 4 (20%) in ANF on the left side, 2(10%) in PNF on the right side and 1 (5%) in HS on the right side) while 13 (65%) were single in number (which includes 9 (45%) in ANF on both left and right side, 4 (20%) in PNF). All double accessory maxillary sinus ostia situated in the ANF and HS were placed in horizontal plane whereas accessory maxillary ostium which was situated in the PNF was placed vertically. Accessory maxillary sinus ostium was varies in size and shape. These accessory maxillary sinus ostia were 0.5 to 5 millimeters in size and round or oval in shape. Similarly out of these 20 (18.5%) half heads in which Accessory maxillary sinus ostia were present 70% Accessory maxillary sinus ostia were found in the anterior nasal fontanelle (ANF), 25% in posterior nasal fontanelle (PNF), and 5% in hiatus semilunaris (HS). Most of the accessory maxillary sinus ostia (65%) were single in number at the various places while double accessory maxillary sinus ostia were also found 20% in the ANF, 10% in the PNF 5% in the HS. Conclusion: Clinically the presence of accessory maxillary sinus ostium is extremely beneficial for surgical intervention of the functional endoscopic sinus surgery which is designed to remove the blockage of maxillary sinus ostium and to restore normal sinus ventilation and mucociliary function.

Does Nasal Polyps Influence on the Location of Nasal Fontanelle? / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: This study aimed to evaluate the relationship between the location of the nasal fontanelle and either the chronic rhiosinusitis with nasal polyp in middle meatus (NP) or the chronic maxillary sinusitis (CMS). SUBJECTS AND METHOD: We classified the subjects without any nasal septal deviation (<5degrees) into three groups: the normal control group, the CMS group (CMS without NP) and the NP group (CRS with NP). Both angles of nasal septum and fontanelle were measured by CT imaging and nasal cavities were counted as an individual side. We compared 96 CT scans of normal controls with 79 of CMS groups and 54 of NP groups. In case of discrepancy in the locations of both fontanelles on their CT scans, we reconstructed all the images to identify the fontanelle location. The lateral side on which the fontanelle was actually located was assigned the positive angle and the medial side the negative angle to determine the presence of fontanelle deviation. The normal range of the fontanelle deviation was established by the mean angle obtained from the normal group, which included 50% of each medial and lateral side. RESULTS: The mean angles of the control group, the CMS group and the NP group were 1.34degrees, 3.47degrees, and 6.99degrees, respectively. A statistically significant relationship was noted between the control and NP group (p=0.001), but not between the control and CMS group, CMS and NP group (p=0.237 and 0.051, respectively). CONCLUSION: The nasal polyp in middle meatus influenced on the location of nasal fontanelle to lateral side compared to the normal controls.

Development of fontanelle and paranasal sinuses in the skull of prenatal buffalo (Bubalus bubalis) / 대한수의학회지

The maxillary sinus appeared first among the sinuses of the skull at 92 days of prenatal stage. The early formation of frontal sinus was observed at 157 days in the cranial most part of the frontal bone while the early formation of palatine sinus was observed at 170 days. A total of five fontanelles were observed in prenatal skulls of buffalo. The largest and unpaired fontanelle was anterior fontanelle. The mastoid and sphenoidal fontanelle were paired. The ossification of anterior fontanelle was first observed at 164 days. All the fontanelles were ossified completely prenatally.

Mysterious Foreign Body in Transverse Sinus

This case report describes a patient who had a foreign body in transverse sinus. A 35-year-old Korean-Chinese man visited the emergency room with lacerated wound in left eyelid and a foreign body which was stumbled upon in the skull. On examination, there was right side hemianopsia in his left eye. He did not complain any headache or show any abnormal neurological signs, but there was a foreign body at left transverse sinus in computed tomography which was taken at another hospital. There was no intracranial abnormality except the foreign body in computed tomography. Because of the financial problem, additional evaluations were not possible. We herein report a strange case in which the pathway of a foreign body to locate in transverse sinus was ambiguous, and suggest that the foreign body located in transverse sinus might have been the penetrated along the anterior fontanelle and passed through the superior sagittal sinus.

Study of relationship between changes in size of posterior fontanelle with gestational age.

In this study we have measured size and area of posterior fontanelle and have studied its relations with gestational age in human fetuses. This study is aimed to provide a range of normal posterior fontanelle dimensions and to provide base for further research in Asian population on morphology of posterior fontanelle and see if there exists any significant difference when compared to European & African studies. For this fifty fetuses were arranged in 5 groups according to their gestational age. Mean posterior fontanelle size and area of each group is measured. After statistical calculations it was observed that posterior fontanelle size and area both vary significantly with gestational age.

Anatomic Illustrations of Cranial Ultrasound Images Obtained Through the Mastoid Fontanelle in Neonates

PURPOSE: Neonatal cranial sonongraphy performed through the mastoid fontanelle is more useful to evaluate the peripheral structures at the convexity of the cerebral hemispheres and brainstem rather than that performed through the anterior fontanelle. The purpose of this study is to demonstrate the anatomy of the extracerebral CSF space and brainstem and to suggest appropriate scan planes for performing neonatal cranial sonography through the mastoid fontanelle using MRI and multiplanar reconstruction programs. MATERIALS AND METHODS: A neonate with normal features on ultrasonography and good image quality on MRI, including the 3D-SPGR axial scans, was selected. We made the reconstructed MR images corresponding to the sonongraphic planes and the anatomic models of the neonatal cranial sonographic images by using axial MRI as the standard reference on the same screen. We demonstrated the sonographic images at the levels of the body of the caudate nucleus and lentiform nucleus, the head of the caudate nucleus and thalamus, the third ventricle and midbrain, and the midbrain and cerebellar vermis on the oblique axial scans. Four oblique coronal images at the levels of the periventricular white matter, basal ganglia, thalamus and tentorium were also obtained. RESULTS: We illustrated the anatomic atlas with including four oblique axial scans and four oblique coronal scans that corresponded to the neonatal cranial sonographic images through the mastoid fontanelle. CONCLUSION: We objectively analyzed the anatomy of the extracerebral CSF space and brainstem by using MRI and multiplanar reconstruction programs and we provided the standardized sonographic scan planes through the mastoid fontanelle. This study will be very helpful for evaluating the abnormalities of the peripheral structures at the convexity of the cerebral hemispheres and brainstem.

Anatomic Illustrations of Cranial Ultrasound Images Through the Posterior Fontanelle in Neonates: Objective Analysis of Oblique Sonographic Scans using MRI and a Reconstruction Program

PURPOSE: Neonatal cranial sonongraphy through the posterior fontanelle is more useful than through the anterior approach for the evaluation of posterior brain structures. The aims of this study were to determine the appropriate neonatal cranial sonography scan planes through the posterior fontanelle, and to objectively evaluate the anatomy of neonatal cranial sonographic images. MATERIALS AND METHODS: Neonates who underwent cranial sonography and MRI including 3D-SPGR axial scans and showed normal features on both modalities were enrolled. We reconstructed MR images corresponding to sonongraphic planes, then constructed anatomic models of the neonatal cranial sonographic images using axial MRI as the standard reference on the same screen. RESULTS: We successfully created anatomic atlas that represents 8 oblique coronal and 4 oblique sagittal scans and planes that corresponded to the neonatal cranial sonographic images through the posterior fontanelle. CONCLUSION: The objective manner of this anatomic research provided standardized sonographic scan planes and created anatomic model through the posterior fontanelle. Cranial sonographic models through the posterior fontanelle using MRI and multi-planar reconstruction program will be helpful in the evaluation of sonographic anatomy and detection of abnormalities in the basal ganglia, thalamus and posterior part of the brain.

Visualization of fetal cranial sutures and anterior fontanelle: Comparison between two- and three-dimensional ultrasound / 中国医学影像技术

Objective To evaluate the feasibility of obtaining good quality ultrasound pictures of sutures and anterior fontanelle with three-dimensional and two-dimensional ultrasound. Methods Eighty fetuses at 16-35 weeks of gestation were evaluated with two-dimensional and three-dimensional ultrasound. The sagittal, coronal, lambdoidal and metopic sutures, as well as anterior fontanelle, were inspected. Results The visualization of the sagittal suture of three-dimensional ultrasound was significantly superior to that of two-dimensional ultrasound, while no significant difference in visualization of the metopic, lambdoidal, coronal sutures and anterior fontanelle was found between the two modalities. The visualization of all sutures and anterior fontanelle was significantly superior with three-dimensional ultrasonography to that of two-dimensional ultrasonography before 30 weeks of gestation, whereas no significant difference was found between the two modalities after 30 weeks of gestation. Conclusion Three-dimensional ultrasound can provide more comprehensive information of fetal cranial sutures and anterior fontanelle than two-dimensional ultrasound does. Three-dimensional ultrasound can also supply high visualization of all sutures and anterior fontanelle before 30 weeks of gestation.