No abstract

Apert syndrome is characterized by craniosynostosis, symmetric syndactyly and other systemic malformations, with mental retardation usually present. The objective of this study was to correlate brain malformations and timing for surgery with neuropsychological evaluation. We also tried to determine other relevant aspects involved in cognitive development of these patients such as social classification of families and parents’ education. Eighteen patients with Apert syndrome were studied, whose ages were between 14 and 322 months. Brain abnormalities were observed in 55.6% of them. The intelligence quotient or developmental quotient values observed were between 45 and 108. Mental development was related to the quality of family environment and parents’ education. Mental development was not correlated to brain malformation or age at time of operation. In conclusion, quality of family environment was the most significant factor directly involved in mental development of patients with Apert syndrome.

A síndrome de Crouzon, doença genética causada por uma mutação no gene responsável pela codificação dos receptores do fator de crescimento fibroblás-tico tipo 2 (FGFR-2), foi descrita primeiramente em 1912 por Octave Crouzon, que caracterizou a tríade de deformidade craniana, alterações faciais e exoftalmia. A síndrome de Crouzon, bem como outras sín-dromes como a de Apert e de Pfeiffer, são também chamadas de craniossinostoses (fechamento precoce das suturas cranianas) sindrômicas. Dentre as craniossinostoses freqüentemente associadas a esta condição, a braquicefalia é a mais freqüente. Outras alte- RESUMO -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. SÍNDROME DE CROUZON PALAVRAS-CHAVE: síndrome de Crouzon, qualidade de vida, cérebro.Crouzon syndrome: factors related to the neuropsychological development and to the quality of life ABSTRACT -Crouzon s�ndrome is characterized b� cranial and facial abnormalities and exophtalmos. MenCrouzon s�ndrome is characterized b� cranial and facial abnormalities and exophtalmos. Mental retardation is sometimes observed. The objective of this stud� was to correlate brain malformations, timing for surger� and also social classification of families and parents education to the neurops�chological evaluation and to the qualit� of life of these families. Eleven patients with Crouzon s�ndrome were studied, whose ages were between 16 and 132 months. The multidisciplinar� evaluation included : social evaluation, cognitive evaluation, brain studies b� magnetic ressonance imaging and qualit� 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 famil� environment and parents education.KEY WORDS: Crouzon s�ndrome, qualit� of life, brain.

The treatment of Tessier no. 3 and no. 4 clefts is controversial, and little is published because of their rarity. Frequently, many surgeries are necessary for correction of these defects, and in some cases, the outcomes are less than the ideal. Aware of that problem, we developed a procedure based on the Van der Meulen rotation and advancement flap of the cheek that may correct the cleft with 1 simple procedure and also respects the aesthetic units of the face. We report 3 patients presenting cleft no. 3 and 1 patient presenting cleft no. 4 and describe the rotation and advancement flap of the cheek technique used in their treatment.