The prevalence of persistent metopic sutures comparing the Nepalese bone collection with Korean bone collection / Prevalencia de suturas metópicas persistentes que comparan una colección de huesos nepaleses con una colección de huesos coreanos

SUMMARY: Metopic suture can be visualized from the nasion to the bregma along the arch of the frontal bone in mid-sagittal plane. Persistent metopic suture normally closing between 1st and 2nd year of life has also been related with ethnicity. The present study reports the presence of complete and incomplete metopic sutures in Nepalese and Korean population skulls which helps to shed light on its incidence rate. Out of 121 adult skulls in Nepalese population, metopic suture was found to be present in 33 skulls. Incomplete metopic sutures showed variations of morphology, like linear (6.61 %), V-shaped (8.26 %) and double incomplete (10.74 %) and two cases with complete metopic suture, which showed variation in interdigitation between its anterior and posterior ends. Korean population showed metopic suture to be present in 8 skulls out of 104 with metopism in 3 skulls. Incomplete metopic sutures like double incomplete (1.92 %) and linear (2.88 %) were also noted. Alterations to local strains could be the contributing factor for such variation and complexity of interdigitation, which occur during the growth of the braincase. The knowledge of the metopic suture and its variations according to ethnicity is important and should be considered to prevent wrong diagnosis. The presence of different types of metopic sutures as reported by the present study provides informative value on the presence and variation of such sutures in population depending on ethnicity and ought to be helpful in diagnostic sequences in emergency setting.

RESUMEN: La sutura metópica se puede visualizar desde nasión hasta el bregma a lo largo del arco del hueso frontal en el plano mediano sagital. La sutura metópica persistente que normalmente se cierra entre el primer y segundo año de vida, también se ha relacionado con el origen étnico. El presente estudio informa la presencia de suturas metópicas completas e incompletas en los cráneos de la población nepalesa y coreana, lo que además de entregar información sobre su tasa de incidencia. De 121 cráneos adultos en la población nepalesa, en 33 de ellos se encontró la sutura metópica. Las suturas metópicas incompletas mostraron variaciones de la morfología, como lineal (6,61 %), en forma de V (8,26 %) y doble incompleta (10,74 %), además de dos casos con sutura metópica completa, que mostraron variación en la interdigitación entre sus extremos anterior y posterior. De los 104 cráneos de la población coreana en 8 se presentó la sutura metópica y en 3 metopismo. También se observaron suturas metópicas incompletas como doble incompleta (1,92 %) y lineal (2,88 %). Las alteraciones en las etnias locales podrían ser el factor contribuyente para tal variación y complejidad de la interdigitación, que ocurre durante el crecimiento de la cráneo. El conocimiento de la sutura metópica y sus variaciones según el origen étnico es importante y debe considerarse para prevenir un diagnóstico incorrecto. La presencia de diferentes tipos de suturas metópicas según lo informado en el estudio, proporciona un valor informativo sobre la presencia y la variación de tales suturas en la población, dependiendo de la etnia, y debería ser útil en las secuencias de diagnóstico en situaciones de emergencia.

Metopism: a Study of the Persistent Metopic Suture.

Metopism, the persistence of the metopic suture in adulthood, is a clinically significant radiographic finding. In addition to masquerading as a fracture of the frontal bone, a persistent metopic suture may be associated with other clinically significant anatomical variations including frontal sinus abnormalities. Several geographically and craniofacially distinct populations have yet to be assessed for the prevalence of metopism. This study aimed to determine the prevalence of metopic sutures in adult crania of diverse populations among which scant research exists. A total of 505 adult crania were examined for the presence of a metopic suture. A total of 13 (2.57%) demonstrated metopism. Among subpopulations, metopism was present in 8.06% (5:62) of European crania, 15.38% (2:13) of East Asian crania, 2.20% (2:91) of Egyptian crania, and 2.86% (1:35) of Bengali crania. Metopism was also found in 1 Chilean, Roman, and Tchuktchi cranium, respectively. Metopism was not seen in crania from individuals of African (non-Egyptian) descent (0:62), Peruvians (0:144), Malayans (0:23), or Mexicans (0:23). Among sexes, metopism was present in 3.77% (8:212) of females and 1.79% (5:279) of males. The prevalence of metopism differs between populations and sexes. The results of this study provide anthropological, developmental, and clinical insight with regard to metopism.

A Surgical Technique for Management of the Metopic Suture in Syndromic Craniosynostosis.

OBJECTIVES: The objective is to describe a new surgical procedure developed in the San Jose Pediatric University Hospital for the management of syndromic synostosis of the metopic suture in a patient clinically diagnosed with Saethre-Chotzen syndrome. METHODS: The diagnosis of Saethre-Chotzen syndrome, bilateral coronal sutures, and metopic suture synostoses was made through photographic, anthropometric, exophthalmometric, and computed tomography analysis. The keel-like frontal bone deformity was corrected following resection using a fusiform osteotomy, remodelling was obtained by milling the edges, and the bony fragments were repositioned and fixed on the posterior wall of the frontal bone. Additionally, a fronto-orbital advancement with a self-stabilizing bar was performed. RESULTS: The 1-year postoperative results showed improvement in the position of the fronto-orbital bar, adequate cranial expansion, satisfactory correction of the upper facial third alteration, and correction of the keel-like deformity. CONCLUSIONS: The surgical approach has not previously been described in the literature and offers an alternative management for syndromic craniosyntostosis of the metopic suture, avoiding skull irregularities.

Perioperative complications associated with intracranial procedures in patients with nonsyndromic single-suture craniosynostosis.

Within the diagnosis "craniosynostosis," there is a subset of patients who present with isolated, nonsyndromic, single-suture involvement. This study evaluates perioperative complications in this specific subset of patients over 4 decades at a single institution. To do so, we performed a retrospective review on consecutive patients undergoing correction of single-suture synostosis from May 1977 to January 2013 at a tertiary pediatric craniofacial center. Demographic information, operative details, and perioperative course were collected. Complications were categorized as either major or minor. A χ(2) test and Fisher exact test were used to compare all categorical variables. Continuous variables were analyzed using Wilcoxon rank-sum and Kruskal-Wallis tests.Seven hundred forty-six patients underwent surgical correction of nonsyndromic craniosynostosis. Of these, there were 307 (41.2%) sagittal, 201 (26.9%) metopic, and 238 (31.9%) unicoronal. Thirty-four patients had complications (4.6%). Eight were considered major (1.1%), including one postoperative mortality in a patient with hypoplastic left-sided heart syndrome. Minor complications occurred in 26 patients (3.5%) and included subgaleal hematoma (n = 3), seroma (n = 4), and superficial wound infection (n = 5). Metopic and sagittal suture involvement was significantly associated with a higher complication rate (P = 0.04). A child with isolated single suture synostosis and any comorbidity had a significantly greater risk of any complication (P < 0.001; odds ratio, 3.8) and specifically an increased risk of major complication (P = 0.031; odds ratio, 6.0). Subclassification of patients by time period yielded no statistically significant changes in perioperative morbidity. To conclude, these data allow us to counsel families more accurately with regard to morbidity and mortality and may potentially serve as a benchmark for future quality improvement work.

Hypertelorism and micro-orbit simultaneous correction in a patient with paramedian bilateral facial clefts.

The aim of this paper is to report a case of a patient with paramedian bilateral facial clefts and hypertelorism associated with a severe encephalocele and micro-orbit. The patient required a facial bipartition to correct a transsphenoidal encephalocele, and a modified medialization surgery of the orbits to simultaneously expand the micro-orbit and correct the hypertelorism. These procedures achieved hypertelorbitism correction, orbital expansion which allowed symmetrical facial growth, and a functional orbit that permitted the use of an ocular prosthesis. We present this unique case to highlight the predictable results of a procedure that combines 2 surgical reproducible techniques of craniofacial surgery.

Frontal-orbital advancement for the management of anterior plagiocephaly.

PURPOSES: The main purposes of this manuscript are to provide an overview of various modalities of surgical correction of anterior plagiocephaly and to emphasize their differences with the classic open frontal-orbital advancement. METHODS AND RESULTS: Advancement of technology provides development of many other ways to achieve the same results. The authors describe the classic open frontal-orbital advancement and compare with other proposed techniques for correction of frontal plagiocephaly. The main limitation of the use of new forms of treatment of the anterior plagiocephaly is the age of the patient. There is still no consensus on criteria for quantitative evaluation of surgical results, and new forms of treatment do not present results with long follow-up. CONCLUSION: Frontal-orbital advancement is the preferred procedure to correct unicoronal synostosis due to its universal indication regardless of the age and degree of deformation of the anterior plagiocephaly.

Frontonasal dysgenesis, first branchial arch anomalies, and pericallosal lipoma: A new subtype of frontonasal dysgenesis.

We report on two unrelated Brazilian boys with craniofacial anomalies that involve the frontonasal process and the first branchial arch associated with pericallosal lipoma. To our knowledge this condition seems to have been reported only once previously, but may represent a new condition within the group of the frontonasal dysgenesis. Clinical and imaging data, phenotypic evolution, and differential diagnosis are discussed.

Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients.

Here we report on 10 male patients with frontonasal dysplasia, cleft lip/palate, mental retardation, lack of language acquisition, and severe central nervous system involvement. Imaging studies disclosed absence of the corpus callosum, midline cysts, and an abnormally modeled cerebellum. Neuronal heterotopias were present in five patients and parieto-occipital encephalocele in three patients. We suggest that this pattern found exclusively in males, most likely represents a newly recognized syndrome distilled from the group of disorders subsumed under frontonasal dysplasia.

Fronto-ethmoidal encephalocele in a historical skull with artificial deformation and no signs of chronic elevated intracranial pressure.

The intentional deformation of human skulls in the living being was one of the most curious rituals performed in historical and ancient times. It is thought that these practices cause chronic elevated intracranial pressure and subsequent symptoms of cognitive impairment. In this report, we examine such an artificially deformed skull dating from the sixteenth century that in addition shows a fronto-ethmoidal encephalocele. However, although the mild encephalocele was already manifest at birth and deformation practices were performed over years, the encephalocele did not progress into a more severe status. We conclude that the intentional deformation of skulls does not lead to chronic elevated intracranial pressure and mental retardation.

Blindness as a complication of monobloc frontofacial advancement with distraction.

The monobloc frontofacial osteotomy provides aesthetic and functional improvement in the treatment of various craniofacial deformities. This procedure, through highly complex, has had some significant associated complication, such as cerebrospinal fluid leakage, hematoma, infection, and bone resorption. Distraction has been successfully used to gradually elongate bone and soft tissue. This method seems to provide improved results over conventional surgery, with less morbidity. We present a case of a patient with Apert syndrome who underwent monobloc advancement using the Rigid External Device (RED) device and who developed a transient bilateral amaurosis on the fourth postoperative day before distraction. A second procedure was performed to push back the frontal bandeau, maintaining the device in position. The blindness was resolved with this procedure as well as treatment with systemic steroids. The distraction was started thereafter, and the desired improvement was acquired. To our knowledge, this is the first case of transient bilateral amaurosis in a patient undergoing monobloc distraction.

Apresentação incomum da fenda craniofacial da linha média, Tessier 0-14: relato de caso

Introdução: Em 1976, Tessier propôs uma classificação das fendas craniofaciais, baseado em sua experiência pessoal, que incluía observação clínica, radiológica e cirúrgica de 336 pacientes. Tessier planejou um sistema de numeração ordenado para identificar o percurso anatômico das fenda média labial verdadeira, com uma columela larga e ponta nasal bífida. A fenda alveolar ocorre entre os incisivos centrais. O septo nasal pode estar espessado, duplicado ou ausente. A ponte nasal é geralmente larga associada a hipertelorismo orbital. A fenda número 14 de Tessier é uma fenda craniana da linha média que geralmente ocorre com a fenda facial da linha média, formando uma disrafia craniofacial média. São características desta fenda, uma raiz nasal larga e nariz bífido que estão associados com hipertelorismo orbital e encefalocele médio frontal. A anormalidade do osso frontal pode variar desde um pequeno achatamento até um grande defeito da linha média. Há aumento da distância entre os bulbos olfatórios. A crista Gali pode apresentar alargada, duplicada ou ausente. Relato de caso: Relatamos o caso de um paciente do sexo masculino, de 2 anos de idade, com uma fenda craniofacial da linha média (Tessier 0-14) de apresentação incomum. Ao exame físico observou-se encurtamento do terço médio facial e presença de diástese dos incisivos centrais associada a um frênulo labial superior. Foi realizado estudo radiológico complementar com tomografia computadorizada de crânio e seios da face, utilizando-se cortes coronais, axiais e reconstrução tridimensional, em seguida, ressonância magnética de crânio e seios da face para confirmação diagnóstica, definição e classificação da fenda craniofacial congênita.

A clinical study of 31 individuals with midline facial defects with hypertelorism and a guideline for follow-up.

In order to contribute to clinical delineation of midline facial defects with hypertelorism (MFDH) and to etiologic diagnosis of the isolated form, 31 patients with MFDH unaffected by known syndromic associations were evaluated. Group A included patients personally examined by the authors, while Group B included those previously evaluated by other geneticists. Among the 14 patients from Group A, there were 7 with distinct pictures of multiple congenital anomalies. In Group B, 5 of the 17 patients also exhibited a distinct pattern of defects. Among isolated MFDH, there was association with anomalies of the skull and facial bones (13/14), otorhinologic (11/16), central nervous system (9/16), and ocular (6/7), and audiologic (3/16); 1/3 of the cases had a relevant gestational intercurrences. Isolated FNM may have involvement of environmental components in some cases; the possibility of a syndromic picture should be extensive investigated. Follow-up of such patients must include the examinations herein performed.

A clinical study of 31 individuals with midline facial defects with hypertelorism and a guideline for follow-up

In order to contribute to clinical delineation of midline facial defects with hypertelorism (MFDH) and to etiologic diagnosis of the isolated form, 31 patients with MFDH unaffected by known syndromic associations were evaluated. Group A included patients personally examined by the authors, while Group B included those previously evaluated by other geneticists. Among the 14 patients from Group A, there were 7 with distinct pictures of multiple congenital anomalies. In Group B, 5 of the 17 patients also exhibited a distinct pattern of defects. Among isolated MFDH, there was association with anomalies of the skull and facial bones (13/14), otorhinologic (11/16), central nervous system (9/16), and ocular (6/7), and audiologic (3/16); 1/3 of the cases had a relevant gestational intercurrences. Isolated FNM may have involvement of environmental components in some cases; the possibility of a syndromic picture should be extensive investigated. Follow-up of such patients must include the examinations herein performed.

Objetivando contribuir com o delineamento clínico de defeitos de linha média facial com hipertelorismo (DLMFH) e com o diagnóstico etiológico das formas isoladas, foram avaliados 31 indivíduos com DLMFH sem condições clínicas definidas. O Grupo A constituiu-se de pacientes examinados pessoalmente e o Grupo B, inicialmente, por outro geneticista. Entre os 14 pacientes do Grupo A, detectou-se 7 novos quadros de anomalias múltiplas (AM). No Grupo B, 5 dos 17 pacientes exibiram um quadro clínico único e peculiar. Nos casos de DLMFH isolados, detectou-se associação com anomalias de ossos de crânio e face (13/14), otorrinolaringológicas (11/16), de sistema nervoso central (9/16), oculares (6/7), e audiológicas (3/16); houve antecedentes gestacionais relevantes em 1/3. Existem evidências de envolvimento de fatores ambientais em parte dos casos de formas isoladas de DLMFH, devendo-se atentar para a possibilidade de um quadro distinto de AM. Todas as investigações realizadas são úteis para avaliação e seguimento clínico.

Cerebellar involvement in midline facial defects with ocular hypertelorism.

OBJECTIVE: Twenty-four patients were evaluated to better characterize neurological and neuroradiological aspects of midline facial defects with ocular hypertelorism. METHODS: After a clinical genetics evaluation, the individuals were divided into two groups: 12 isolated cases (group 1) and 12 associated with multiple congenital anomalies (group 2). The investigation protocol included medical and family history, as well as dysmorphological, neurological, and neuroradiological evaluations by magnetic resonance imaging or computed tomography scan. RESULTS: Because there was no significant difference concerning the neurological aspects of groups 1 and 2, they were analyzed together. Mild hypotonia (24 of 24), abnormalities in cranial shape (24 of 24), cranial nerves (19 of 24), motor coordination (18 of 24), dynamic equilibrium (14 of 24), and language problems (8 of 24) were noted. Measurements of the posterior fossa showed hypoplastic cerebellar vermis (8 of 17), the cerebellum at lower normality limits (5 of 17), and signs of cerebellar hypoplasia (3 of 7). CONCLUSION: This study clearly demonstrates the presence of structural and functional neurological abnormalities related to midline facial defects with ocular hypertelorism, as well as involvement of the cerebellum. It provides a basis for future investigation of midline facial defects with ocular hypertelorism and should be considered during planning of rehabilitation treatment.

Estudos de neuroimagem quantitativa em individuos com anomalias craniofaciais / Quantitative neuroimaging studies in individuals with craniofacial anomalies

Foram estudados 31 indivíduos com anomalias crânio faciais utilizando protocolo previamente definido, composto por avaliação clínica, citogenética, avaliação morfológica (ressonância magnética [RM] com reformatação multiplanar [MPR]) e investigação funcional (Eletroencefalografia [EEG] e/ou Tomografia por emissão de fóton único [SPECT]). Destes, 17 apresentavam defeitos de linha média facial com hipertelorismo (DLMFH), 10, síndrome de Saethre-Chotzen (SCS) e 4, síndrome blefaroqueilodôntica (BCD). Nos indivíduos com DLMFH foi observado, na avaliação neurológica, anormalidades na forma craniana (17/17), hipotonia (16/17), distúrbios de coordenação motora (10/17) e alteração no equilíbrio (6/17). A RM evidenciou anormalidades em todos os casos que incluíram alterações comissurais (16/17), malformações de desenvolvimento cortical (10/17), alterações no fechamento de tubo de neural (7/17), e anormalidades de fossa posterior (6/17). O EEG mostrou distúrbio epileptiforme em 6/17 e anormalidades de fundo em 5/17 pacientes. O SPECT evidenciou hipoperfusão em cerebelo (8/11) e ponte (8/11), o que explicaria as alterações observadas no exame neurológico. Na SCS a avaliação neurológica mostrou braquicefalia (10/10), hipotonia muscular (6/10) hipomimia (3/10) e descoordenação motora (2/10). A avaliação neurorradiológica (RM com MPR) mostrou alterações no crânio (10/10), anomalias comissurais (6/10), perturbações de fechamento de tubo de neural (4/10), malformações de desenvolvimento cortical (4/10), alterações na fossa posterior (3/10). Na BCD, foi observada...

31 individuals were studied with different cranium-facial anomalies using a previously defined protocol, composed by clinical and cytogenetics evaluation, morphological evaluation (magnetic resonance image [MRI] with multiplanar reformatting [MPR]) and of functional investigation (Electroencephalogram [EEG] and/or single-photon emission computed tomographic imaging [SPECT]). Seventeen presented Midline facial defects with ocular hypertelorism (MFDH), 10 with Saethre-Chotzen Syndrome (SCS) and 4 with Blefarocheilodontic Syndrome (BCD). In MFDH individuals, it was observed in neurological evaluation, abnormalities in cranial shape (17/17), motor coordination (10/17) and equilibrium (6/17). MRI showed central nervous system (CNS) abnormalities in all cases, which included commissural alterations (16/17), malformations of cortical development (10/17), disturbances of neural tube closure (7/17) and posterior fossa abnormalities (6/17). EEGs showed epileptiform abnormalities in 6/17 and background abnormalities in 5/17 patients. The SPECT evidenced cerebellar (8/11) and pons (8/11) hipoperfusion, what would explain the alterations observed in the neurological evaluation. In SCS cases, neurological evaluation showed brachycephaly (10/10), hypotonia (6/10) frontal hypomimia (3/10) and motor incoordination (2/10). Neuroradiologic exams (MRI with MPR) showed skull alterations (10/10), comissural anomalies (6/10), disturbances of neural tube closure (4/10), malformations of cortical development (4/10), alterations of posterior fossa (3/10). In BCD, passive hypotonia was detected in all cases, at neurological evaluation. MRI showed thin posterior hippocampal portion in one case and vascular and gyri malformatios in frontal lobe in another case. The SPECT...

Angular analysis of corpus callosum in 18 patients with frontonasal dysplasia.

Considering the rarity of the frontonasal dysplasia (FD) and the few reports about it in a large casuistry using magnetic resonance image (MRI), we describe the results of the angular analysis of the corpus callosum of 18 individuals with FD (7 male, 11 female), using an easily-reproductive method. Group I had 12 individuals with isolated form and Group II had 6 individuals with FD syndromic with unknown etiology. The results are presented in set. Comparing with the control group, patients with FD presented alpha angle increase and beta and gamma angles reduction (p<0.05). Alpha and gamma angles express the relationship between the anterior portion of corpus callosum and the floor of 4th ventricle. Considering the embryonary development, these findings would occur secondarily to failure during the development of nasal capsula. Thus, angular anomaly in corpus callosum would be a usual finding, and not fortuitous in patients with FD.

Angular analysis of corpus callosum in 18 patients with frontonasal dysplasia

Considerando a raridade da displasia frontonasal (DF) e os poucos estudos sobre esta condição clínica usando ressonância magnética (RM), descrevemos os resultados da análise angular do corpo caloso em 18 indivíduos com DF (7 homens, 11 mulheres), usando um método de fácil reprodução. O Grupo I foi formado por 12 indivíduos com DF isolada e o Grupo II, por 6 portadores de DF sindrômica de etiologia desconhecida. Não houve diferença entre os grupos, e os dados são apresentados em conjunto. Comparando com o grupo controle, houve aumento significativo do ângulo alfa e redução dos ângulos beta e gama (p<0,05) Os ângulos alfa e gama expressam a relação entre a porção anterior do corpo caloso e do piso do 4º ventrículo. Esses achados radiológicos poderiam ocorrer secundariamente à falência do desenvolvimento da cápsula nasal. Assim, as anomalias angulares no corpo caloso poderiam ser um achado usual, e não fortuito, na DF.

Lipoma do corpo caloso com extensäo extracraniana através de falha óssea frontal / Lipoma of the corpus callosum with extracranial extension through frontal bone defect

Os lipomas intracranianos geralmente se localizam no corpo caloso e raramente apresentam expansäo para a regiäo subgaleal. Revisäo da literatura mostrou que apenas oito casos foram descritos em que o lipoma do corpo caloso se estendia para localizaçäo extracraniana através de falha óssea frontal. As manifestaçöes clínicas mais comuns nesses pacientes eram crises convulsivas e retardo mental. A literatura mostra que a ressecçäo do lipoma de corpo caloso geralmente leva a resultados catastróficos, devendo ser restrita a porçäo extracraniana do tumor. O caso relatado é de uma criança portadora desta entidade, semmanifestaçäo clínico-neurológica e que foi submetida a ressecçäo cirúrgica da porçäo subcutânea do lipoma com finalidade cosmética

[Lipoma of the corpus callosum with extracranial extension through frontal bone defect]. / Lipoma do corpo caloso com extensão extracraniana através de falha óssea frontal.

Intracranial lipoma are usually localized in the corpus callosum and rarely extends to the subgaleal region. Only eight cases of lipoma of the corpus callosum with extracranial extension were reported in the literature. Seizures and mental retardation were the most common clinical findings in these patients. Data from the literature show that resection of intracranial lipoma has catastrophic results. The resection must be restricted to the extracranial portion. We report a child with lipoma of the corpus callosum with extracranial extension with no neurologic deficit submitted to resection of the extracranial extension.

Hipertelorismo severo na síndrome da face mediana fendida / Severe hypertelorism in cleft frontonasal syndrome

Neste trabalho relata-se um caso em que foi constatado um hipertelorismo verdadeiro e severo, baseando-se nos vários métodos de mediçäo descritos na literatura. O paciente apresenta um hipertelorismo verdadeiro e severo associado a Síndrome da Face Mediana Fendida ou Displasia Fronto-Nasal confirmada através do índice cantal e do índice inter-orbital