Population-level assessment of atlas occipitalization in artificially modified crania from pre-Hispanic Peru.

Atlas occipitalization (AO) is a spinal anomaly, characterized by the fusion of the first cervical vertebra and occipital bone, with a complex etiology that can arise from congenital and environmental causes. AO has been reported in three regions of pre-Hispanic Peru in skeletal remains with artificial cranial modification (ACM), which involves the use of compression devices to permanently alter cranial shape and may have affected the fusion of the atlas and occipital bone. The aims of this study were to gain insights into AO's etiology by testing correlations between AO and ACM presence/type and geographic region as well as to characterize morphological variation associated with AO. We investigated the geographic distribution of AO and its potential relationship to ACM in a large sample of human crania from eight coastal and highland regions of pre-Hispanic Peru, held at the Smithsonian's National Museum of Natural History (n = 608, 1300-1500 CE). Eleven cases of AO were observed in three coastal regions-including two previously unreported regions-at an overall frequency of 1.8%. The frequency of AO did not differ significantly between crania with and without ACM, in general or by type, suggesting that ACM is not an etiological factor that influences AO in this sample. AO was observed at a significantly higher rate in the southern coastal region of Arequipa than in any other region. Genetic, dietary, and epidemiological conditions are evaluated as factors possibly shaping the geographic distribution of AO along the central and southern coasts of Peru.

Displasia de accipital em pinscher - relato de caso / Occipital dysplasia in pinscher dog - a case report

The occipital dysplasia is a rare disease in dogs. It is characterized by an enlargement of the dorsal occipital bone. It has been associated to small breed animals. We report a case of a dog Pinscher diagnosed with occipital dysplasia through radiographs. We conclude that the animal showed behavioral changes and anorexia due to occipital dysplasia, being of great importance the radiographic examination to confirm the diagnosis.(AU)

Displasia de accipital em pinscher - relato de caso / Occipital dysplasia in pinscher dog - a case report

The occipital dysplasia is a rare disease in dogs. It is characterized by an enlargement of the dorsal occipital bone. It has been associated to small breed animals. We report a case of a dog Pinscher diagnosed with occipital dysplasia through radiographs. We conclude that the animal showed behavioral changes and anorexia due to occipital dysplasia, being of great importance the radiographic examination to confirm the diagnosis.

Incidence of basilar invagination in patients with tonsillar herniation? A case control craniometrical study.

A retrospective case-control study based on craniometrical evaluation was performed to evaluate the incidence of basilar invagination (BI). Patients with symptomatic tonsillar herniation treated surgically had craniometrical parameters evaluated based on CT scan reconstructions before surgery. BI was diagnosed when the tip of the odontoid trespassed the Chamberlain's line in three different thresholds found in the literature: 2, 5 or 6.6 mm. In the surgical group (SU), the mean distance of the tip of the odontoid process above the Chamberlain's line was 12 mm versus 1.2 mm in the control (CO) group (p<0.0001). The number of patients with BI according to the threshold used (2, 5 or 6.6 mm) in the SU group was respectively 19 (95%), 16 (80%) and 15 (75%) and in the CO group it was 15 (37%), 4 (10%) and 2 (5%).

Incidence of basilar invagination in patients with tonsillar herniation ? a case control craniometrical study / Incidência da invaginação basilar com heriação tonsilar ? estudo da craniometria do tipo caso-controle

A retrospective case-control study based on craniometrical evaluation was performed to evaluate the incidence of basilar invagination (BI). Patients with symptomatic tonsillar herniation treated surgically had craniometrical parameters evaluated based on CT scan reconstructions before surgery. BI was diagnosed when the tip of the odontoid trespassed the Chamberlain’s line in three different thresholds found in the literature: 2, 5 or 6.6 mm. In the surgical group (SU), the mean distance of the tip of the odontoid process above the Chamberlain’s line was 12 mm versus 1.2 mm in the control (CO) group (p<0.0001). The number of patients with BI according to the threshold used (2, 5 or 6.6 mm) in the SU group was respectively 19 (95%), 16 (80%) and 15 (75%) and in the CO group it was 15 (37%), 4 (10%) and 2 (5%).

Realizamos estudo retrospectivo tipo caso-controle baseado na avaliação craniométrica para avaliar a incidência da Invaginação Basilar (IB). Pacientes com herniação tonsilar sintomática tratada cirurgicamente foram avaliados quanto a parâmetros craniométricos obtidos em reconstrução de TC antes da cirurgia. IB foi diagnosticada quando a ponta do odontóide passava acima da linha de Chamberlain em 2, 5 ou 6,6 mm. No grupo cirúrgico (CI), a distância média da ponta do odontóide acima da linha de Chamberlain foi de 12 mm versus 1,2 mm no grupo controle (CO) (p<0.0001). O número de pacientes com IB conforme o critério diagnóstico usado (2, 5 ou 6,6 mm) foi de 19 (95%), 16 (80%) e 15 (75%) no grupo CI, respectivamente, contra 15 (37%), 4 (10%) e 2 (5%) no grupo CO. Pacientes com herniação tonsilar tinham maior incidência de IB comparados ao grupo controle.

The spheno-occipital synchondrosis fuses prematurely in patients with Crouzon syndrome and midface hypoplasia compared with age- and gender-matched controls.

PURPOSE: Premature closure of the spheno-occipital synchondrosis (SOS) has been associated with midface hypoplasia in animal models and patients with specific forms of syndromic craniosynostosis. The present study aimed to characterize SOS fusion in patients with Crouzon syndrome. PATIENTS AND METHODS: A case-control study was performed in patients with Crouzon syndrome treated at the Children's Hospital of Philadelphia from 1984 to 2012. The cases included patients with Crouzon syndrome and at least 1 high-quality computed tomography (CT) scan in which SOS patency could be assessed. Age- and gender-matched control CT scans were identified for comparison. The patient age at the CT scan was evaluated as the predictor, with SOS patency identified as the outcome variable. Three independent reviewers with high inter-rater reliability graded the SOS patency as open, partially fused, or completely fused. The Wilcoxon rank sum test was used to compare the Crouzon group and the controls. RESULTS: During the study period, 30 patients were identified with Crouzon syndrome. A total of 24 patients, all with midface hypoplasia and with 112 cranial CT scans, met the inclusion criteria. Accordingly, 112 age- and gender-matched control CT scans were assessed. No patient in the control group had midface hypoplasia. Within the Crouzon group, the average age at complete closure (14.0 ± 3.4 years) evident on the CT scan was significantly younger than that in the control group (16.6 ± 2.2 years; P = .0152). The average age when the scans showed complete patency of the SOS in the Crouzon group (1.3 ± 1.1 years) was significantly younger than that in the control group (3.2 ± 2.3 years; P = .0001). CONCLUSIONS: The SOS closes significantly earlier in patients with Crouzon syndrome compared with age- and gender-matched controls. The strong statistical correlation supports premature closure of the SOS as a possible mechanistic contributor to midface hypoplasia.

Atlanto-occipital fusion and its neurological complications: a case report

During routine activities in the Laboratory of Human Anatomy at the University of Santa Cruz do Sul – Brazil, an atlanto-occipital fusion was observed in a Caucasian cadaver skull. The skull used in our study had complete fusion of the occipital bone with the atlas vertebra, except in traffic areas of the vertebral arteries. Some important neurological disorders seem to be related with atlanto-occipital fusion. The presence of other anatomical variations was not verified. Thus, the present study shall be important for health sciences and those who keep some interest in pathologies associated with brain.

An unusual anatomic variation of the jugular foramen with doubled posterior condylar canal / Una variación anatómica inusual del foramen yugular con canal condilar posterior duplicado

A case of unusual anatomical variation of the jugular foramen (JF) with doubled posterior condylar canal (PCC) is reported. According to the presence of bridging, the JF can be defined as Type I (one septation, two compartments) on the right side and Type IV (three septations, four compartments) on the left side. The dome of the jugular fossa is present on the right, absent on the left. The jugular foramen shows a canal-like structure with an external and an internal opening. The lengths of the longest and widest axes of the JFs are measured as 21.93 x 16.56 mm on the right and 16.75 x 15.14 mm on the left side. The right JF is larger. The PCC is doubled on the right side and there is only one on the left side. It is essential not only to know compartments per se but also to know the structures passing through the compartments, in order to achieve desired surgical outcomes and avoid complications.

Es reportado el caso de una inusual variación anatómica del foramen yugular (FY), con el canal condilar posterior duplicado (CCP). De acuerdo con la presencia de los puentes, el FY se puede definir como Tipo I (una tabicación, dos compartimientos) en el lado derecho y Tipo IV (tres tabiques, cuatro compartimientos) en el lado izquierdo. El domo de la fosa yugular está presente en el lado derecho, y ausente en el izquierdo. El foramen yugular mostró una estructura igual a un canal con una apertura externa y otra interna. Las longitudes de los ejes más largos y anchos de la FY fueron 21,93x16,56mm al lado derecho y 16,75x15,14mm al lado izquierdo. El FY derecho fue más grande. El CCP se observó duplicado en el lado derecho y único en el lado izquierdo. Es esencial no sólo conocer los compartimientos en sí, sino también las estructuras que pasan a través de los compartimientos con el fin de lograr los resultados deseados y evitar las complicaciones quirúrgicas.

Analysis of bone variations of the occipital bone in man / Análisis de las variaciones del hueso occipital en el hombre

Inadequate ossification of the interparietal region induces the appearance of interparietal and wormian bones, also associated with genetic factors. The formation of the interparietal bone depends on the separation of the intermediate segment from the lateral plate by the transverse occipital suture, which means that this bone is formed by the medial and lateral plates. Wormian interparietal bones or epactal bones are located within the interparietal region, being single or multiple, and are located in the upper central region of the interparietal region, the sutural bones, however, are formed from additional ossification centers that can occur in near sutures. The aim of this work was to macroscopically evaluated the presence of changes in the structure of the adult human occipital bone in cadavers found in the human anatomy laboratory of the Goißs Federal University in order to determine the frequency of supernumerary bones associated with occipital and parietal bones and relate it to literature, as well as to provide images and data for ethnic studies in the Brazilian population and data that could help medical practices such as fetal position and radiographs. Our data have indicated that the frequency of the interparietal bone of 1.92 percent is among those seen in countries such as Japan, Bulgaria, Nigeria, India and Turkey, but lower than values found in pre-Hispanics Chileans; however, for the sutural bones, the frequency of this study was higher than other data obtained from Spanish and other Brazilians.

La osificación inadecuada de la región interparietal induce a la aparición de los huesos interparietal y wormiano, asociado también con factores genéticos. La formación del hueso interparietal depende de la separación del segmento intermedio desde la placa lateral por la sutura occipital transversal, lo que significa que este hueso se forma por las placas medial y lateral. Los huesos interparietales wormianos o hueso epactal se encuentram dentro de la región interparietal, siendo únicos o múltiples, y se localizan en la región central superior de la zona interparietal. Los huesos suturales, sin embargo, se forman de centros de osificación adicionales que pueden aparece cerca de estas suturas. El objetivo de este trabajo, fue evaluar macroscópicamente la presencia de variaciones en la estructura del hueso occipital en cadáveres humanos, adultos encontrados en el Laboratorio de Anatomía Humana de la Universidad Federal de Goiás, con la finalidad de determinar la frecuencia de los huesos supernumerarios asociados con los huesos parietal y occipital. Además, comparamos estos datos con los descritos enla literatura y, aportamos imágenes y datos para estudios étnicos en la población Brasileña. Estos datos pueden ayudar en las prácticas médicas como la posición fetal y radiografías. Nuestros datos indicaron que la frecuencia del hueso interparietal fue de 1,92 por ciento y se encuentra en países como Japón, Bulgaria, Nigeria, India y Turquía, pero inferior a los valores encontrados en chilenos prehispánicos. Sin embargo, para los huesos suturales, la frecuencia de este estudio fue superior a otros datos obtenidos de españoles y otros estudios realizados en individuos brasileños.

Unusual occipital condyles of the skull: an osteological study with clinical implications

CONTEXT: The occipital condyles of the skull articulate with the superior articular facets of the atlas vertebra and form an important junction between the cranium and the vertebral column. The morphological features of occipital condyles are relevant in biomechanical, anatomical and clinical studies. OBJECTIVE: To describe the anatomical profile of unusual occipital condyles detected in a bone specimen. CASE REPORT: The present osteological study provides a detailed morphological description of unusual occipital condyles showing uneven and serrated surfaces and also displaying longitudinal and transverse grooves on the left and right sides respectively. The case study also discusses the clinical importance of such anomalies. Precise anatomical knowledge of the occipital condyles is important for any craniovertebral operative procedures such as resection of the occipital condyles.

CONTEXTO: Os côndilos occipitais do crânio se articulam com as facetas superiores da vértebra atlas e formam uma importante junção entre o crânio e a coluna vertebral. As características morfológicas dos côndilos occipitais são relevantes em estudos biomecânicos, anatômicos e clínicos. OBJETIVO: Descrever o perfil anatômico de côndilos occipitais incomuns observados em uma amostra óssea cadavérica. RELATO DE CASO: O estudo osteológico aqui apresentado mostra a detalhada descrição morfológica de côndilos occipitais incomuns com superfícies desproporcionais e serradas, e também com sulcos longitudinais e transversais à esquerda e à direita, respectivamente. O estudo do caso também discute a importância clínica dessas anomalias. O conhecimento anatômico preciso dos côndilos occipitais é importante para qualquer procedimento cirúrgico como, por exemplo, a ressecção de côndilos occipitais.

Unusual occipital condyles of the skull: an osteological study with clinical implications.

CONTEXT: The occipital condyles of the skull articulate with the superior articular facets of the atlas vertebra and form an important junction between the cranium and the vertebral column. The morphological features of occipital condyles are relevant in biomechanical, anatomical and clinical studies. OBJECTIVE: To describe the anatomical profile of unusual occipital condyles detected in a bone specimen. CASE REPORT: The present osteological study provides a detailed morphological description of unusual occipital condyles showing uneven and serrated surfaces and also displaying longitudinal and transverse grooves on the left and right sides respectively. The case study also discusses the clinical importance of such anomalies. Precise anatomical knowledge of the occipital condyles is important for any craniovertebral operative procedures such as resection of the occipital condyles.

A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3.

Knobloch syndrome (KS), characterized by high myopia, vitreoretinal degeneration with retinal detachment, macular abnormalities and occipital encephalocele, was recently confirmed as autosomal recessive. Here we report the assignment of the gene for this syndrome to 21q22.3 with the marker D21S171 through homozygosity mapping in a highly inbred Brazilian family with 11 affected individuals. A total of nine markers spanning a region of 15.2 cM of the chromosome 21q22.3 were tested and the candidate region was restricted to an interval of 4.3 cM.

Knobloch syndrome in a large Brazilian consanguineous family: confirmation of autosomal recessive inheritance.

Knobloch syndrome is a rare genetic disorder characterized by high myopia, vitreoretinal degeneration with retinal detachment and occipital cephalocele. The inheritance has been described as autosomal recessive (AR) but in addition to the original report with 5 affected patients [Knobloch and Layer, 1971] only one other family with 2 affected sibs has been described [Czeizel et al., 1992]. We have studied a large consanguineous kindred in which there are 12 patients with severe ocular alterations associated with a congenital occipital encephalocele, compatible with the diagnosis of Knobloch syndrome. CT scan and MRI performed in one of the patients, allowed a better understanding of the cranial and ocular alterations in this syndrome. The pattern of occurrence in this highly inbred family clearly confirms autosomal recessive inheritance of Knobloch syndrome.

[Prevention of neutral tube closure defects, apropos of a case of iniencephaly]. / Prevención de defectos de cierre del tubo neural, a propósito de un caso de iniencefalia.

We present a newborn with a malformation in the central nervous system that isn't frequent, the ininencephaly: this consist in the absence of the squamous part of the occipital bone, exaggerated cervical-thoracic retroflexion, high raquischisis, and with other malformations. Died at half hour, by global insufficiency respiratory due lug hypoplasia, verify by necropsies. In the Clinic Hospital of the University of Chile the incidence is 1 in 40,000 life newborn. We review the prevent of the nerval tube defect with the use of folic acid in the diet of the future woman who is going to became pregnant.

Mylohyoid and jugular foramen bridging in pre-Columbian Chileans.

The occurrence of mylohyoid groove bridging and jugular foramen bridging was determined in a population of adult Pre-Columbian Chileans. Two hundred forty-one crania (110 males, 131 females) were examined for jugular foramen bridging and 464 mandibles (252 males and 212 females) were observed for mylohyoid groove bridging. The overall incidence of jugular foramen bridging was 14.94%, with females showing a higher occurrence (18.32%) than males (10.91%); however, no statistical significance was found between the sexes. The right side showed a greater incidence than the left, but again no statistical difference was noted and the occurrence of this trait was found to be associated between the sides. This frequency of jugular foramen bridging is higher than that found in other studies and approaches that reported in North American Eskimo populations. In the case of mylohyoid groove bridging, the incidence was 4.09% with no difference found between the sexes. This frequency of occurrence is less than the values reported previously for the other American populations of Mongoloid ancestry including the Pre-Columbian Peruvian population. The importance of nonmetric skeletal traits for defining population groups and their usefulness as anthropological tools is discussed. It is concluded that hard tissue variations such as bony bridging may be reliable markers to aid in discretely identifying population groups, but their importance can be significantly enhanced by coupling as many traits as possible in future studies.