ABSTRACT
A Craniossinostose Coronal bilateral implica em diminuição do Perímetro Craniano (PC) no eixo ântero-posterior (Braquicefalia) e frequentemente se associa ao aumento do eixo céfalo-caudal (vertical-altura) do crânio (Turricefalia), sendo um dos achados mais comuns nas Síndromes de Crouzon e Apert. Objetivo: Identificar, analisar e sintetizar os métodos de avaliação cognitiva apropriados para o acompanhamento da evolução de pacientes com cranioestenoses sindrômicas, em particular as síndromes de Apert e de Crouzon. Método: Trata-se de uma revisão de escopo. Para a formulação da pergunta norteadora da pesquisa e da estratégia de busca, foi utilizada a estratégia Population [((Apert OR Crouzon) AND (Disease OR Syndrom*))], Concept [((cognit* OR neurobehavioral OR neurocognit* OR neuropsyc*) AND (evaluation OR evaluations OR assessment OR "test" OR tests OR status OR development OR disorder OR disorders OR impairment OR impairments OR impaired OR function OR functions))] e Context (em qualquer contexto). Foram inclusos os artigos escritos em inglês, português e espanhol em qualquer período. A busca foi realizada nas bases de dados: Embase, Scopus, PubMed/MEDLINE e rede BVS Salud. Resultados:Inúmeros testes de avaliação cognitiva validados internacionalmente foram aplicados aos pacientes com Apert e Crouzon, mas não se observou uma padronização (protocolo) seguida pelas várias unidades de assistência. Dos 75 tipos de Testes Cognitivos aplicados houve o predomínio da Escala de Inteligência de Wechsler (e seus subtestes), 50%. Na população avaliada predominou duas faixas etárias: escolares e adolescentes. As crianças com Apert e Crouzon obtiveram escores piores nos transtornos de socialização, atenção e internalização quando comparadas com o grupo normativo, sendo os piores resultados encontrados em Apert. Fatores que interferem no desenvolvimento neuropsicomotor: pressão intracraniana, malformações encefálicas, genética, idade na correção cirúrgica (postergação da primeira cirurgia após um ano de idade associou-se a um quociente de inteligência mais baixo), institucionalização, ambiente familiar, escolaridade dos cuidadores e nível socioeconômico. Considerações finais: os resultados obtidos contribuíram para maior conhecimento do perfil cognitivo dos pacientes com estas síndromes. Somente conhecendo as habilidades e dificuldades neuropsicomotoras, cognitivas e psicossociais dos pacientes com Apert e Crouzon é que as equipes de saúde, da escola e de cuidadores poderão entender melhor a capacidade perceptiva destes no processo de aprendizado e estarão mais aptas em atender as necessidades especiais destes pacientes e poderão ofertar os estímulos mais adequados no momento mais oportuno (AU).
Bilateral Coronal Craniosynostosis implies a decrease in the Cranial Perimeter (CP) in the anteroposterior axis (Brachycephaly) and is frequently associated with an increase in the cephalocaudal (vertical height) axis of the skull (Turrycephaly); being one of the most common findings in Crouzon and Apert Syndromes (Syndromic Craniosynostosis). In this Scope Review study, among the Syndromic Craniosynostosis, Apert and Crouzon Syndromes will be of special interest. Objective: This study aimed to identify, analyze, and synthesize the appropriate cognitive assessment methods for monitoring the evolution of patients with syndromic craniosynostosis, in particular Apert's and Crouzon's syndromes. Method: This is a scope review. In order to formulate the research guiding question and the searching strategy, the Population [((Apert OR Crouzon) AND (Disease OR Syndrom*))], Concept [((cognit* OR neurobehavioral OR neurocognit* OR neuropsyc*) AND (evaluation OR evaluations OR assessment OR "test" OR tests OR status OR development OR disorder OR disorders OR impairment OR impairments OR impaired OR function OR functions))] and Context (in any context) strategy was used. The articles written in English, Portuguese, and Spanish in any period were included. The search was performed in the following databases: Embase, Scopus, National Library of Medicine (PubMed/MEDLINE), and in the BVS Salud network (PAHO, WHO, BIREME, LILACS). Results: many internationally validated cognitive assessment tests were applied to patients with Apert and Crouzon, but no standardization (protocol) was followed. Of the 75 types of Cognitive Tests applied, the Wechsler Intelligence Scale predominated, 50%. In the evaluated population, two age groups predominated: school children and adolescents. Children with Apert and Crouzon had worse scores on disorders of socialization, attention, and internalization when compared to the normative group, with the worst results found in Apert. Factors that interfere with cognitive development: intracranial pressure, brain malformations, genetics, age at surgical correction, institutionalization, family environment, caregiver education, and socioeconomic status. Conclusion: the results contributed to a better understanding of the cognitive profile of patients with these syndromes and only by knowing about the neuropsychomotor, cognitive, and psychosocial skills and difficulties of these patients with Apert and Crouzon that health, school, and caregiver teams will be able to understand the perceptive capacity in the learning process of these patients deeply and will be able to offer the most appropriate stimuli at the most opportune time. Keywords: Apert, Crouzon, Neuropsyc, Tests, Development (AU).
Subject(s)
Humans , Acrocephalosyndactylia/diagnosis , Attention Deficit and Disruptive Behavior Disorders , Craniofacial Dysostosis/diagnosis , NeuropsychologyABSTRACT
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.
Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Craniofacial Dysostosis/complications , Craniofacial Dysostosis/diagnosis , Craniofacial Dysostosis/etiology , Ultrasonography, PrenatalABSTRACT
El síndrome de Crouzon es un defecto de origen congénito que se caracteriza por malformaciones en el desarrollo, ligado al cierre prematuro de las suturas craneales que producen severos cambios en la conformación de la cara y cráneo. El objetivo de este trabajo es presentar un caso clínico de un paciente con síndrome de Crouzon de 17 años de edad, sexo femenino. Se analizan los diagnósticos clínico, radiográfico y elt ratamiento ortodóntico-quirúrgico.
Subject(s)
Humans , Male , Adolescent , Craniofacial Dysostosis/diagnosis , Craniofacial Dysostosis , Craniofacial Dysostosis/therapy , Mandibular Advancement , Orthodontics, Corrective , Osteotomy , Palatal Expansion TechniqueABSTRACT
Human skull is made up of many bone joints connected by sutures. The sutures fuse in later life after the complete growth of the brain. If any of these sutures closes early, it may interfere with the normal growth of the brain. The developing brain may exert pressure on the skull and may grow in the direction of the other open sutures. Premature sutural fusion may occur alone or together with other anomalies, making up various syndromes. Crouzons syndrome is an example of such a syndrome that is associated with premature synostosis of the sutures of the skull. Presented in this article is a case of Crouzons syndrome seen in a boy aged 9 years.
Subject(s)
Abnormalities, Multiple/diagnosis , Acrocephalosyndactylia/diagnosis , Child , Craniofacial Dysostosis/diagnosis , Diagnosis, Differential , Facies , Humans , MaleABSTRACT
Crouzon Syndrome is an autosomal dominant syndromic craniosynostosis characterized by premature closure of cranial sutures, exophthalmos, and midface hypoplasia. It is caused by multiple mutations in the fibroblast growth factor receptor 2 (FGFR2). We describe prenatal genetic testing of FGFR2 in a fetus of a mother whose previous child had Crouzon Syndrome due to an apparently de novo mutation, S351C. Sequence electropherograms of the exon 10 of FGFR2 encompassing the codon 351 revealed only the normal sequence, thus predicting a very high likelihood of an unaffected fetus. The study was confirmed by the birth of a normal neonate. We report the use of molecular genetic testing to exclude Crouzon Syndrome due to FGFR2 mutation prenatally. Prenatal diagnostic testing for a known mutation is a reasonable option for couples at risk for having a child with Crouzon Syndrome due to germline mosaicism. Molecular testing is more accurate and reliable than ultrasonography and provides families with reassurance.
Subject(s)
Adult , Craniofacial Dysostosis/diagnosis , Female , Humans , Infant, Newborn , Pregnancy , Prenatal Diagnosis/methods , Receptor Protein-Tyrosine Kinases/genetics , Receptor, Fibroblast Growth Factor, Type 2 , Receptors, Fibroblast Growth Factor/geneticsABSTRACT
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.
Subject(s)
Acrocephalosyndactylia/complications , Child , Craniofacial Dysostosis/diagnosis , Diagnosis, Differential , Facies , Female , Humans , Malocclusion/etiology , Patient Care TeamABSTRACT
Com relaçäo à displasia cleidocraniana, fez-se um apanhado sistematizado sobre: a etiologia, os aspectos clínicos, os aspectos bucais, os aspectos radiográficos e o tratamento. Ressalta-se a importância do reconhecimento do distúrbio para adoçäo do tratamento corretivo das condiçöes bucais
Subject(s)
Cleidocranial Dysplasia/diagnosis , Craniofacial Dysostosis/diagnosis , Craniomandibular Disorders/complications , Facial Bones/physiopathologyABSTRACT
Apresentamos neste artigo as principais características do comportamento vocal de 5 pacientes com disostose acrofacial e um tipo particular de comprometimento laríngeo. Os principais parâmetros avaliados foram tipo de voz, ressonância, pitch, loudness, emissäo dos sons da fala, ataque vocal, articulaçäo, velocidade, dinâmica respitatória, estruturas da fonaçäo e avaliaçäo corporal. As principais alteraçöes vocais encontradas foram rouquidäo e soprosidade com ressonância laringo-faríngea e tempos máximos de fonaçäo diminuídos
Subject(s)
Humans , Male , Female , Child , Adolescent , Craniofacial Dysostosis/diagnosis , Mandibular Diseases/diagnosis , Pierre Robin Syndrome/diagnosis , Voice QualityABSTRACT
Se presenta el caso de un recién nacido masculino con síndrome de cráneo en hoja de trébol. Descripción de un caso. Se trató de un neonato masculino de término, de 4,000 g de peso, a quien se catalogó como portador del síndrome en cuestión. Sus anomalías fueron: cráneo trilobulado, hidrocefalia, protrusión ocular, encía trilobulada, pabellones auriculares bajos y lateralizados, cuello corto, miembros superiores con anquilosis bilateral del codo, sindactilia en ambas manos, implantación baja del pulgar; miembros inferiores con anquilosis bilateral de rodilla, dedos de los pies sobrepuestos y primer dedo deforme; genitales externos con hipospadias peneano, escroto bífido conteniendo ambos testículos. La radiografía lateral de cuello reveló fusión de cuerpos vertebralesde C4 a C7. Las radiografías de miembros inferiores mostraron incurvamiento de fémur, tibia y peroné, así como acortamiento importante de los mismos. La radiografía de cráneo demostró ausencia de porciones escamosas de los huesos craneales, órbitas y arcos cigomáticos. Discusión. Se analizan los reportes publicados y se comparan con los datos encontrados en el caso
Subject(s)
Abnormalities, Multiple/classification , Skull/abnormalities , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/etiology , Skull/pathology , Craniofacial Dysostosis/diagnosis , Craniofacial Dysostosis/physiopathologyABSTRACT
En este trabajo se describen 3 casos de enfermedad de Crouzon en una familia de cinco miembros procedentes de la localidad de Saullo Grande en Cajamarca
Subject(s)
Humans , Male , Female , Middle Aged , Exophthalmos/physiopathology , Craniofacial Dysostosis/diagnosis , Peru , Craniofacial Dysostosis/etiology , Optic Atrophy/physiopathologyABSTRACT
La enfermedad de Crouzon es un síndrome de deformidad craneofacial que resulta de una sinostosis prematura de las suturas de la base del craneo y de la cara. Se describen 4 casos de enfermedad de Crouzon atendidos en el Centro Oftalmológico I.C.N.Y.O. entre los años 1971 a 1985 discutiéndose los aspectos clínicos, radiológicos y terapéuticos de esta entidad