Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system / Craniossinostoses sindrômicas: habilidades neuropsicolinguísticas e análise por imagem do sistema nervoso central

ABSTRACT Objective: To characterize patients with syndromic craniosynostosis with respect to their neuropsycholinguistic abilities and to present these findings together with the brain abnormalities. Methods: Eighteen patients with a diagnosis of syndromic craniosynostosis were studied. Eight patients had Apert syndrome and 10 had Crouzon syndrome. They were submitted to phonological evaluation, neuropsychological evaluation and magnetic resonance imaging of the brain. The phonological evaluation was done by behavioral observation of the language, the Peabody test, Token test and a school achievement test. The neuropsychological evaluation included the WISC III and WAIS tests. Results: Abnormalities in language abilities were observed and the school achievement test showed abnormalities in 66.67% of the patients. A normal intelligence quotient was observed in 39.3% of the patients, and congenital abnormalities of the central nervous system were observed in 46.4% of the patients. Conclusion: Abnormalities of language abilities were observed in the majority of patients with syndromic craniosynostosis, and low cognitive performance was also observed.

RESUMO Objetivo: Caracterizar as habilidades neuropsicolinguísticas de indivíduos com craniossinostoses sindrômicas e apresentar esses achados com as anomalias do sistema nervoso central. Métodos: Participaram do estudo 18 sujeitos com diagnóstico clínico de craniossinostose sindrômica, 44,4% com a síndrome de Apert e 55,6% síndrome de Crouzon. Todos os sujeitos foram submetidos a avaliação fonoaudiológica, psicológica e exames de ressonância magnética do encéfalo. A avaliação fonoaudiológica foi contemplada pela Observação Comportamental da Linguagem, Teste Peabody (TVIP), Teste Token e Teste de Desempenho Escolar (TDE); enquanto a psicológica utilizou a WISC-III e a WAIS. Resultados: Observou-se alteração nas habilidades de linguagem em todos os protocolos utilizados, sendo o TDE o que apresentou maior porcentagem de alteração (66,67%).A avaliação cognitiva evidenciou quociente de inteligência dentro da média em 39,3% dos sujeitos, enquanto que 46,4% apresentaram malformações congênitas do sistema nervoso central. Conclusão: Constatou-se alterações nas habilidades de linguagem na maioria dos sujeitos com craniossinostoses sindrômicas, bem como o baixo desempenho cognitivo.

Síndrome de Crouzon: presentación de un caso / Crouzon syndrome: case report

Es una displasia ósea no letal caracterizada por cierre prematuro de las suturas coronales, hipoplasia de la parte media de la cara y proptosis ocular. Son los defectos congénitos del cráneo más frecuentes en humanos. El síndrome de Crouzon tiene una prevalencia de 15 en 1 x 106 nacimientos. Existen varias teorías que intentan explicar su patogenia. Hipótesis más actuales sugieren que el defecto se produce por una mutación del gen que codifica el receptor del factor del crecimiento fibroblástico tipo 2 (FGFR2). Los hallazgos ecográficos incluyen braquicefalia, oxicefalia, hipertelorismo e hipoplasia de la zona media de la cara. La sensibilidad del ultrasonido para detectar anomalías craneofaciales depende mucho del operador. La ecografía 3D no incrementa la tasa de detección de la 2D. Recientes estudios radiográficos revelaron frecuentes malformaciones intrauterinas no diagnosticadas. El diagnóstico prenatal se puede realizar por técnicas moleculares. La evolución posnatal es variable.

Comparison of periodontal parameters in individuals with syndromic craniosynostosis

Craniosynostosis syndromes are characterized by premature closure of one or more cranial sutures, associated with other malformations, the most frequent of which are the Crouzon and Apert syndromes. Few studies in the literature have addressed the oral health of these individuals. The purpose of this study was to compare the periodontal status of individuals with Apert, Crouzon, Pfeiffer and Saethre-Chotzen syndromes before toothbrushing and compare the efficiency of plaque removal before and after mechanical toothbrushing. The probing depth, plaque index (according to Lõe and O'Leary), clinical attachment level, gingival index (according to Silness and Lõe) and amount of keratinized mucosa were evaluated before toothbrushing, and the O'Leary plaque index was assessed before and immediately after toothbrushing, on the same day, in 27 individuals aged 11 to 36 years. There was statistically significant difference in the mean probing depth and clinical attachment level among regions (p=0.00; p=0.01, respectively). The gingival index did not reveal statistically significant differences. With regard to the plaque index, the left region exhibited higher plaque index values than the right and anterior regions. No significant results were found in the analysis of keratinized mucosa. Comparison of the O'Leary plaque index before and after toothbrushing revealed statistically significant difference for all syndromes except for the Pfeiffer syndrome (p<0.05). In conclusion, there was no difference in the periodontal status among individuals with syndromic craniosynostosis. The posterior region was more affected than the anterior region as to the presence of plaque, loss of insertion and probing depth. Individuals with Pfeiffer syndrome exhibited greater toothbrushing efficiency than individuals with the other craniosynostosis syndromes.

Monoblock Craniofacial Internal Distraction in a Child with Pfeiffer Syndrome: A Case Report

A 7-yr-old boy visited our surgical center with Pfeiffer syndrome type 1, presenting with macrocrania, broad big toe and thumb, exophthalmos, tongue protrusion, malocclusion with midfacial retrusion, mild respiratory difficulty due to minor upper airway obstruction, and developmental delay. He also exhibited anthrophobia with a passive character. The patient was treated with internal monoblock distraction osteogenesis to increase the intracranial and intraorbital volumes, and the nasal and pharyngeal airway spaces using two modular mid-facial internal distractors. For distraction, the latency period was 1 week, the daily activation of 1.0 mm was 20 days (total advancement 20 mm at the midline), and the consolidation period was 3 months. The follow-up computed tomography 12 months after surgery showed expansion of the brain and proper ossification in the distracted area. The patient also showed aesthetically good cranial contours, improved tongue and eyeball protrusion, no respiratory difficulty, and improved learning. We suggest that the internal distraction may last longer than an external type, resulting in a better bone fusion rate and successful expansion of craniofacial bones.

Síndrome de crouzon: fatores envolvidos no desenvolvimento neuropsicologico e na qualidade de vida / Crouzon syndrome: factors related to the neuropsychological development and to the quality of life

A síndrome de Crouzon é caracterizada por deformidade craniana, alterações faciais e exoftalmia. O retardo no desenvolvimento neuropsicomotor é observado em alguns casos. Este estudo tem como objetivo analisar a influência do momento da cirurgia, da classe sócio-econômica associada ao nível educacional dos pais e da ocorrência de malformações do sistema nervoso central no desenvolvimento cognitivo destes pacientes correlacionando estes achados à qualidade de vida deles e de suas famílias. Foram estudados 11 pacientes com diagnóstico de síndrome de Crouzon com idade entre um ano e quatro meses e treze anos. A avaliação multidisciplinar dos pacientes incluiu, avaliação social, avaliação cognitiva, estudo do encéfalo por ressonância magnética e avaliação da qualidade de vida. O quociente de inteligência variou de 46 a 102 (m=84,2) e foi correlacionado de forma inversa com o Fator 4 do Questionário de Recursos e Estresse Simplificado (incapacidade da criança); não se correlacionou com as alterações encefálicas, com a condição sócio-econômica dos pais e nem com o momento do tratamento neurocirúrgico.

Crouzon syndrome is characterized by cranial and facial abnormalities and exophtalmos. Mental retardation is sometimes observed. The objective of this study was to correlate brain malformations, timing for surgery and also social classification of families and parents education to the neuropsychological evaluation and to the quality of life of these families. Eleven patients with Crouzon syndrome were studied, whose ages were between 16 and 132 months. The multidisciplinary evaluation included : social evaluation, cognitive evaluation, brain studies by magnetic ressonance imaging and quality of life evaluation. The intelligence quotient values observed were between 46 and 102 (m=84.2) and was correlated (inverted correlation) to the factor IV of the short-form of the Questionnaire on Resources and Stress. Mental development was not correlated to brain malformation, neither to the age at time of operation or to the level of family environment and parents education.

Síndromes de Apert e Crouzon: características de interesse odontológico e relato de casos clínicos / Apert and Crouzon syndromes: dental interest characteristics and case reports

As síndromes de Apert e Crouzon são doenças do grupo das craniosinostoses. São condições raras, de origem autossômica, que resultam em fechamento precoce das suturas cranianas, além de diversas anomalias, incluindo crânio em forma de torre, hipoplasia maxilar, maloclusão dentária, entre outras. A síndrome de Apert, no entanto, diferencia-se pela presença de sindactilias palmares e plantares. O objetivo deste trabalho é descrever as principais características dessas síndromes e descrever dois casos clínicos de pacientes em tratamento na Clínica de Ortodontia da PUC Minas.

Nager acrofacial dysostosis: an unusual association with both upper and lower eyelid colobomas.

Nager acrofacial dysostosis comprises defects of cranio facial region and limbs (mostly upper) with variable associated anomalies. The cranio- facial complex is indistinguishable from the mandibulo facial dysostosis (Treacher Collins syndrome). About 80 cases have been described in the literature. We describe the case of a one-day-old male neonate who presented with the typical features of the disease complex. Although normal life span has been reported, our patient died on the second day due to cardio respiratory failure. We report this case because of its rarity and an unusual associated feature of bilaterally symmetrical upper and lower eyelid colobomas.

Anomalias dentárias emportadores da síndrome de Apert e da síndrome de Crouzon / Dental anomalies in patients carrying the Apert syndrome and the Crouzon syndrome

Este estudo tem por objetivo analisar a prevalência de anomalias dentárias em pacientes portadores da síndrome de Apert e em pacientes portadores da síndrome de Crouzon. Foram analisadas radiografias ortopantomográficas de pacientes matriculados no Hospital de Reabilitação de Anomalias Cranofaciais, USP, Bauru/SP (HRAC-USP), vinte pacientes com a síndrome de Apert e nove pacientes com a síndrome de Crouzon. As radiografias analisadas foram obtidas do arquivo de radiologia odontológica deste Hospital. Utilizando-se os prontuários dos pacientes portadores das síndromes, foi possível verificar se os pacientes apresentavam algum tipo de fissura lábio-palatal. A anomalia dentária encontrada com maior freqüencia foi a alteração de erupção (dentes retidos/impactados), provavelmente resultante da grande hipoplasia maxilar que essas síndromes apresentam...

Pyknodysostosis: visceral manifestations and simian crease.

Pyknodysostosis is a rare autosomal recessive osteosclerosing skeletal disorder caused by mutations in the CTSK gene situated at 1q21 that codes for cathepsin K - a lysosomal cysteine protease. Mutations in this gene affect the metabolism of skeletal system. This causes problems in bone resorption and remodelling and craniofacial abnormalities. In this article we report a case of 12 year old female from Punjab with pyknodysostosis having hepatosplenomegaly and simian crease.

Luxación espontánea del globo ocular en un caso de síndrome de Crouzón / Spontaneous ocular globe luxation in a Cruzon syndrome case

Se presenta el caso de una niña de 2 años 10 meses de edad con síndrome de Crouzón con luxación espontánea de globo ocular izquierdo, se realiza revisión de la literatura y se comentan los posibles errores diagnósticos

Crouzon disease--a case report.

The present case of a ten year old boy with craniofacial dysostosis with the features of midfacial hypoplasia is a disease known as Crouzon disease. This disease is characterised by cranial deformities, facial malformation, eye changes and occasional other associated abnormalities. The aim of this case is to discuss the clinical, radiographic features and management of the problems.

Doença de crouzon: apresentaçäo de casos / Crouzon's discases: report of a cases

Os autores apresentam neste trabalho dois casos, mäe e filha, portadoras de Doença de Crouzon, mostrando a importância desta entidade em nosso meio, assim como alguns aspectos clínicos e radiológicos, dando ênfase ao seu diagnóstico diferencial