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.

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.

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.

Apert syndrome: factors involved in the cognitive development

A síndrome de Apert é caracterizada por cranioestenose, sindactilia simétrica e outras malformações sistêmicas. O retardo no desenvolvimento neuropsicomotor é freqüentemente observado. Este trabalho tem como objetivo analisar as malformações do sistema nervoso central, o momento da cirurgia e a classe sócio-econômica associada ao nível educacional dos pais como variáveis que possam influenciar no desenvolvimento cognitivo. Foram estudados 18 pacientes com diagnóstico de síndrome de Apert com idade entre 14 e 322 meses e as alterações encefálicas foram observadas em 55,6%. O quociente de inteligência variou de 45 a 108 e estava correlacionado com a classe sócio-econômica e com o nível de instrução dos pais; não se correlacionou com as alterações encefálicas nem com o momento do tratamento neurocirúrgico. Em conclusão, a condição sócio-econômica e o nível de instrução dos pais foram relevantes na determinação do desenvolvimento cognitivo destes pacientes.

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...

Dentofacial characteristics in Apert syndrome: a case report.

Apert's syndrome is a developmental malformation characterized by craniosynostosis, a cone shaped calvarium, midface hypoplasia, pharyngeal attenuation, ocular manifestations and syndactyly of the hands and feet. The prodromal characteristic for the typical craniofacial appearance is early craniosynostosis of the coronal suture, cranial base and an agenesis of the sagittal suture. These craniofacial characteristics predispose the patient to maxillary transverse and sagittal hypoplasia with concomitant dental crowding, a pseudo cleft palate and a skeletal and dental anterior open bite. A case of Apert syndrome is presented with special emphasis on craniofacial characteristics and multidisciplinary approach to treatment. The differences between Apert and Crouzon's syndrome are highlighted.

Síndrome de pfiffer asociado a cráneo en trébol: primer caso descrito en Venezuela / Pfeiffer s syndrome associated to cloverleaf skull: first case described in Venezuela

En 1964, Pfeiffer describió un síndrome que consiste en craneosinostosis, pulgares anchos, primer ortejo grande y sindactilia cutánea parcial de manos y pies, por lo que se incluyó en el grupo de los síndromes de acrocefalosindactilia. Se describe un lactante menor, masculino, producto de VII gesta, embarazo simple, a término, no controlado, sin complicaciones, madre y padre sanos, no consanguíneos, de 32 y 50 años, respectivamente; quien llena los criterios diagnóstiscos y pronósticos de Síndrome de Pfeiffer, subtipo 2. Se discuten los aspectos clínicos, radiológicos, tomográficos y genéticos

Ceratite com úlcera corneana na Síndrome de Apert: relato de caso / Keratitis with cornean ulcer in Apert's syndrome: report of a case

Os autores, relatam um caso de ceratite com úlcera corneana na Síndrome de Apert, em um paciente de cinco meses encontrado no RS