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BACKGROUND: Craniosynostosis is an underdiagnosed complication associated with hypophosphatemic rickets. The study aims to describe the clinical and auxological characteristic of children with hypophosphatemic rickets and craniosynostosis, describe the usual treatment, and compare the characteristics with those of children without craniosynostosis. METHODS AND PATIENTS: An observational and retrospective cohort study was conducted. Clinical notes and cranial images were reviewed. Out of 96 children, only the 50 patients who had skull images were included. RESULTS: Out of 50 patients, 26 (15 males) had craniosynostosis (52%). No differences were observed in birth size, age, height, body proportions, alkaline phosphatase, serum phosphate, or percent tubular reabsorption of phosphate at first appointment among children with or without craniosynostosis. Among patients with craniosynostosis, dolichocephaly was prevalent. The sagittal suture was affected in all patients with craniosynostosis, with 19 of 26 children (73%) affected with isolated scaphocephaly. Pan-sutural craniosynostosis was present in 7 children (27%). None of the children had microcephaly, 7 of them presented macrocephaly and, in the remaining subjects, head circumference was normal. Five patients had undergone at least 1 cranial remodeling surgery. One patient with craniosynostosis was diagnosed with a Chiari I malformation. Molecular characterization of PHEX gene was performed in 14 cases. CONCLUSIONS: Craniosynostosis is an underdiagnosed complication of hypophosphatemic rickets. Many patients with normal head size and growth may go undiagnosed, thus it is important to consider this association for early diagnosis and possible surgical treatment. A multidisciplinary approach is necessary for a correct long-term follow-up.

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Objetivos: 1 ­ primário: Relatar um caso de craniossinostose (CS) complexa não-sindrômica de paciente nascido no Hospital do Servidor Público Municipal (HSPM) em 2017. 2 ­ secundário: Compreender a CS, as principais causas, seus fatores de risco e as principais síndromes envolvidas nesta alteração craniana. Método: Relato de caso de paciente nascido no ano de 2017, no HSPM que no ultrassom morfológico, durante o pré-natal, feito a hipótese diagnóstica de CS. Confirmado ao nascimento, no alojamento conjunto. Discussão: O crânio de um recém-nascido é composto de múltiplos ossos e suturas, as quais facilitam sua passagem através do canal de parto e acomodam o encéfalo. As assimetrias cranianas podem ser de origem deformacional, que ocorrem devido às forças externas e esta diferenciação nem sempre é simples. A CS é uma anomalia congênita comum resultante do fechamento precoce de uma ou mais suturas do crânio. A incidência é de 1:1200-2500 nascimentos, podendo apresentar diferentes graus de desproporção volumétrica entre o crânio e o encéfalo. As CS são classificadas como primária ou secundária, sindrômica ou não-sindrômica, sendo as síndromes mais comuns: Crouzon, Apert, Pfeiffer, Muenke e Saethre - Chotzen.F. A suspeita diagnóstica inicia-se na fase intrauterina, no entanto o exame definitivo e de escolha é a tomografia de crânio com reconstrução tridimensional, após o nascimento. Várias teorias tentam explicar a patogênese de uma fusão anormal de sutura craniana, mutação genética é uma delas. O reconhecimento precoce da deformação do crânio e a classificação precisa, são fatores cruciais para o sucesso do tratamento, sendo esta conduzida a partir de equipe multidisciplinar. Palavras chave: Craniossinostose. Anormalidades Craniofaciais. Síndrome.

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BACKGROUND: Osteogenesis imperfecta is an inherited disorder of the connective tissue characterized primarily by fractures with no or small causal antecedents and extremely variable clinical presentation. The disorder requires a global and, therefore, multidisciplinary therapeutic approach that should aim, among other aspects, at the prevention and treatment of deformities resulting from osteogenesis imperfecta. Due to limitations related to bony deformities, it can be difficult to place these infants in a variety of positions that would help remediate skull deformities, so a cranial orthosis becomes the therapy of choice. The aim of this study was to demonstrate the results obtained during treatment with a cranial remolding orthosis (helmet) in babies with osteogenesis imperfecta. Case Description and Methods: For the first time in the scientific literature, this study describes the use of a cranial orthosis for the treatment of infants with osteogenesis imperfecta. Both children had severe asymmetrical brachycephaly documented by laser digital scanning and were submitted to treatment with a cranial remolding orthosis. Outcomes and Conclusion: The study showed that there was a significant improvement in cranial proportion and symmetry, with a reduction in the cephalic index at reevaluation. It is concluded that the orthotic therapy is an effective therapeutic modality to improve the proportion and minimize the asymmetry in children with osteogenesis imperfecta. Clinical relevance The clinical relevance of such a description is that children with osteogenesis imperfecta may have numerous deformities and minimizing them can be an important factor. This report showed a beneficial result as the orthotic therapy modality improved the proportions and minimized the asymmetry. This treatment offers too high levels of satisfaction to parents and brings these children closer to normal indices.

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Approximately a hundred patients with terminal 10q deletions have been described. They present with a wide range of clinical features always accompanied by delayed development, intellectual disability and craniofacial dysmorphisms. Here, we report a girl and a boy with craniosynostosis, developmental delay and other congenital anomalies. Karyotyping and molecular analysis including Multiplex Ligation dependent probe amplification (MLPA) and Array Comparative Genomic Hybridization (aCGH) were performed in both patients. We detected a 13.1 Mb pure deletion at 10q26.12-q26.3 in the girl and a 10.9 Mb pure deletion at 10q26.13-q26.3 in the boy, both encompassing about 100 genes. The clinical and molecular findings in these patients reinforce the importance of the DOCK1 smallest region of overlap I (SRO I), previously suggested to explain the clinical signs, and together with a review of the literature suggest a second 3.5 Mb region important for the phenotype (SRO II). Genotype-phenotype correlations and literature data suggest that the craniosynostosis is not directly related to dysregulated signaling in suture development, but may be secondary to alterations in brain development instead. Further, genes at 10q26 may be involved in the molecular crosstalk between brain and cranial vault.

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BACKGROUND: The use of posterior cranial vault distraction for the treatment of elevated intracranial pressure is gaining popularity and is a standard for first-stage cranial expansion in syndromic craniosynostosis at many institutions. However, although the operation is faster and less complex than other cranial vault remodeling procedures, it is not without its own unique set of complications. METHODS: We surveyed the published literature for case series and case control studies on posterior vault distraction. Complication rates and types for these series were tabulated and grouped by management. When outcomes were unclear, corresponding authors were contacted for clarification and treatment plans. RESULTS: Eleven reports were found from a search of all the literature on posterior cranial vault distraction with a range of 1 to 22 included patients. The average age at surgery was 16.2 ± 11.8 months. Complication rates ranged from 12.5% to 100%, with the average of 30% of patients across all studies. The most common complications reported were cerebrospinal fluid leak or dural injury, followed by wound infections or device exposures, and device failure. There were no reported patient deaths or long-term morbidities. CONCLUSIONS: Posterior cranial vault distraction is a relatively safe and effective therapy for the treatment of elevated intracranial pressure in the setting of syndromic craniosynostosis. The majority of described complications center on the interaction of the device with the dura, device extrusion, and infection. Extreme care must be used with the placement of these distraction devices and with handling of the dura at the osteotomy sites to ensure successful outcomes and avoid complications. LEVELS OF EVIDENCE: III.

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The aims of this study were to document the incidence of new-onset craniosynostosis (NOC) after posterior vault distraction osteogenesis (PVDO), to determine risk factors for the development of NOC, and to deduce the cranial ramifications of NOC. An institutional review board-approved retrospective review of all patients who underwent PVDO at the Children's Hospital of Philadelphia was performed. Demographics, perioperative data, as well as preoperative and postoperative three-dimensional computed tomographic scans were analyzed. Suture patency preoperatively and postoperatively was recorded.Thirty patients underwent PVDO for suspected increased intracranial pressure and/or severe turribrachicephaly from 2008 to 2013. Twenty-four patients had syndromic diagnoses. The average age at the time of PVDO was 2.03 years. Distraction distances ranged from 19 to 40 mm, with an average of 28.7 mm. Among the 19 patients who had patent lambdoid sutures before PVDO, new-onset lambdoid fusion was seen in 17 patients after PVDO (89.5%), whereas the suture remained open in 2 patients (10.5%). New-onset lambdoid fusion was not significantly associated with age at distraction (P = 0.28), sex (P = 0.47), length of distraction (P = 0.93), or diagnosis (P = 0.61). Similarly, new-onset sagittal synostosis was not associated with age at distraction (P = 0.06), sex (P = 0.64), length of distraction (P = 0.83), or diagnosis (P = 0.25). None of the patients who developed NOC had characteristic head shape changes such as mastoid bulges or scaphocephaly. New-onset lambdoid and sagittal synostoses occur frequently after PVDO. Although the diagnosis of NOC is obvious radiographically, the clinical importance of the diagnosis morphometrically, neurodevelopmentally, and in cranial growth has yet to be fully investigated.

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A single pathophysiological mechanism of Chiari Type I malformations (CM-I) has been a topic of debate. To help better understand CM-I, the authors review disorders known to be associated with CM-I. The primary methodology found among most of them is deformation of the posterior cranial fossa, usually with subsequent decrease in volume. Other mechanisms exist as well, which can be categorized as either congenital or acquired. In understanding the relationship of such disorders with CM-I, we may gain further insight into the process by which cerebellar tonsillar herniation occurs. Some of these pathologies appear to be true associations, but many appear to be spurious.

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PURPOSE: To verify if uterine cerclage can induce craniosynostosis or any cranial deformity in new born Wistar rats. METHODS: One pregnant female Wistar rat underwent laparotomy on day 18 of gestation and the uterus cervix was closed with a 3-0 nylon suture to avoid delivery, that occurs normally on the 21 day. The suture was released after 48 hours beyond the normal gestation period. The female rat delivered 11 pups. Six surviving rats from the delivery (group A - constrained group). Two rats were born from another mother and in the same age were used as control group (group B - 2 nonconstrained controls) were allowed to grow. They were sacrificed 1.2 years after their birth all the eight animals. Linear measurement, routine histology and computed tomography of the skull were performed at the time of their death to evaluate the cranial asymmetries by measurements of the anatomical landmarks of the craniofacial skeleton of the rats on the two groups and compared then. RESULTS: We did not observe statistically significant differences in any of the compared measurements (p>0.05) obtained through the morphologic and radiologic methods. Histologic examinations did not reveal any sign of premature fusion or suture imbrications. Critical decrease in longitudinal body size was noticed as the limbs too in all the animals of group A. CONCLUSION: Constriction of uterine cervix leads to fetus suffering, even death for a few animals, associated to small body size, but not to craniosynostosis.

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PURPOSE: To verify if uterine cerclage can induce craniosynostosis or any cranial deformity in new born Wistar rats. METHODS: One pregnant female Wistar rat underwent laparotomy on day 18 of gestation and the uterus cervix was closed with a 3-0 nylon suture to avoid delivery, that occurs normally on the 21 day. The suture was released after 48 hours beyond the normal gestation period. The female rat delivered 11 pups. Six surviving rats from the delivery (group A - constrained group). Two rats were born from another mother and in the same age were used as control group (group B - 2 nonconstrained controls) were allowed to grow. They were sacrificed 1.2 years after their birth all the eight animals. Linear measurement, routine histology and computed tomography of the skull were performed at the time of their death to evaluate the cranial asymmetries by mesurements of the anatomical landmarks of the craniofacial skeleton of the rats on the two groups and compared then. RESULTS: We did not observe statistically significant differences in any of the compared measurements (p>0.05) obtained through the morphologic and radiologic methods. Histologic examinations did not reveal any sign of premature fusion or suture imbrications. Critical decrease in longitudinal body size was noticed as the limbs too in all the animals of group A. CONCLUSION: Constriction of uterine cervix leads to fetus suffering, even death for a few animals, associated to small body size, but not to craniosynostosis.

OBJETIVO: Verificar se a cerclagem intra-uterina pode induzir, ao nascimento de ratos Wistar, craniossinostose ou qualquer outra deformidade craniana. MÉTODOS: Uma rata Wistar prenhe foi submetida à laparotomia no 18º dia de gestação e o cérvix uterino foi suturado com 3-0 nylon, impedindo o parto normal que normalmente ocorre no 21º dia de gestação. A sutura foi liberada 48 horas após o período gestacional normal. A rata gestante deu à luz 11 animais. Seis ratos sobreviveram ao parto (grupo A com restrição). Dois ratos nascidos de outra mãe e com a mesma idade foram utilizados como controle (grupo B sem restrição controle) durante o seu crescimento. Os oito animais foram sacrificados após 1,2 ano. Medidas lineares, histologia e tomografia computadorizada foram utilizadas para a aferição de assimetrias cranianas através da mensuração de pontos anatômicos do esqueleto craniofacial dos ratos dos dois grupos. RESULTADOS: Não foi observada diferença estatisticamente significante entre as medidas obtidas nos ratos dos dois grupos (p>0,05) obtidas através de métodos morfológicos e radiológicos. As análises histológicas não revelaram sinais de fusão prematura da suturas do crânio. Diminuição do segmento corpóreo, bem como do tamanho dos membros foi evidenciado em todos os animais do grupo A. CONCLUSÃO: A restrição do cérvix uterino levou ao sofrimento fetal, morte de alguns animais e diminuição do tamanho do corpo de todos os animais, mas não craniossinostose.

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