Dental approach for Apert syndrome in children: A systematic review

Background: Apert Syndrome (AS), or type I acrocephalosyndactyly, is a rare, congenital craniosynostosis condition resulting from missense mutations in the gene encoding fibroblast growth factor receptor 2. It is characterized by three specific clinical features: brachycephalic skull; midface hypoplasia, and limb abnormalities (syndactyly of hands and feet). The disorder exhibits variable presentations in bones, brain, skin, internal organs, and in the oral/ maxillofacial region. The aim of the present paper was to show the main results from a systematic review of AS. Material and Methods: A search of the literature was performed from April to June 2016 in five electronic databases. Clinical interventional or observational studies, reviews, and case reports were included. The present systematic review was carried out strictly following PRISMA and Cochrane Collaboration criteria. Results: A total of 129 potential references were identified. After reviewing titles and abstracts, 77 of these did not meet the desired criteria and were discarded. The full text of the remaining 52 manuscripts was critically screened. Finally, 35 relevant papers were identified for inclusion in the present systematic review and classified according to topic type. Conclusions: According to the information gathered, dentistry practitioners must be able to supply an early diagnosis through the recognition of AS clinical features and provide correct oral management. Additionally, they should be integrated in a multidisciplinary medical care team in order to improve the quality of life of the affected patients (AU)

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Pfeiffer syndrome: clinical and genetic findings in five Brazilian families

Pfeiffer syndrome (PS) is mainly characterized by craniosysnostosis, midface hypoplasia, great toes with partialsyndactyly of the digits and broad and medially deviated thumbs. It is caused by allelic mutations in the fibroblast growth factor receptor 1 and 2 (FGFR1 and 2) genes. This study describes the clinical and genetic features of five Brazilian families affected by PS. All patients exhibited the classical phenotypes related to PS. The genetic analysis was able to detect the mutations Cys278Phe, Cys342Arg, and Val359Leu in three of these families. Two mutations were de novo, with one familial. We identified pathogenic mutations in four PS cases in five Brazilian families by PCR sequencing of FGFR1 exon 5 and FGFR2 exons 5, 8, 10, 11, 15, and 16. The clinical and genetic aspects of these families confirm that this syndrome can be clinically variable, with different mutations in theFGFR2 responsible for PS

Diagnóstico prenatal de síndrome de Apert por mutación de novo en gen FGFR2 / Prenatal diagnosis of Apert syndrome caused by de novo mutation in FGFR2 gene

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Síndrome de Apert y apnea de sueño / Apert Syndrome and Sleep Apnea

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Síndrome de Crouzon: a propósito de 2 casos. Entidades craneoestenóticas alélicas de los genes FGFR / Presentation of two cases of Crouzon syndrome: allelic cranio-stenotic conditions of FGFR genes

Introducción: La craneosinostosis consiste en una fusión patológica precoz de una o varias suturas craneales. El 20% de los casos corresponde a formas sindrómicas con patrones hereditarios mendelianos, mientras que el 80% restante a formas no sindrómicas, pero con transmisión hereditaria en el 10-14% de los casos. A propósito de 2 pacientes con síndrome de Crouzon, se revisan los aspectos clínicos y genéticos. Pacientes y métodos: Paciente 1: niña de 35 días con macrocefalia progresiva, abombamiento de la fontanela, proptosis ocular, hipertelorismo y estrabismo divergente. Rx de cráneo con sinostosis de la sutura sagital. Fue intervenida quirúrgicamente a los 3 y 8 meses por desarrollo de pansinostosis. Paciente 2: niño de 3 años 8 meses con cefaleas de tipo migrañoso de un año de evolución. Presentaba acantosis nigricans. Rx de cráneo y TC craneal con impresiones digitales y fondo de ojo con discreto borramiento papilar. Tras 18 meses apareció edema de papila y en la TC craneal se detectó pansinostosis, requiriendo intervención quirúrgica. Resultados: Hemos presentado un paciente con síndrome de Crouzon clásico (paciente 1) y otro con acantosis nigricans (paciente 2), diagnosticándose por su particular fenotipo clínico. Conclusiones: Dada la amplia diversidad de formas alélicas en los genes FGFR que cursan con craneosinostosis, conociéndose hasta 10 entidades, realizamos una revisión de las mismas. En las formas sindrómicas, como nuestros 2 casos, conviene detallar al máximo los signos clínicos pues pueden orientar el diagnóstico, y el estudio molecular permitirá en ocasiones confirmarlo y ofrecer asesoramiento genético a las familias(AU)

Introduction: Craniosynostosis is an abnormal and premature fusion of any cranial suture. Twenty per cent of them involve any specific syndrome with Mendelian transmission; the other 80% are "non syndromic", although but 10-14% of them are genetically transmitted. Using the experience of two patients with Crouzon syndrome, a clinical and genetic review is performed. Patients and methods: Patient 1: girl of 35 days of age with progressive macrocephaly, protrusion of fontanel, ocular proptosis, hypertelorism and divergent strabismus. Cranial RX with sagittal synostosis. Surgical operation was performed with 3 months and 8 months of age due to development of pansynostosis. Patient 2: boy of 3 years 8 months of age with headaches of migrainous type of one year onset. He had acanthosis nigricans. Cranial RX and cerebral CT with evident digital markings and fundus of eye with undefined papillary limits, but 18 month later oedematous papilla were evident and pansynostosis was detected, so surgery was performed. Results: We present a patient with classical Crouzon syndrome (patient 1) and another with acanthosis nigricans (patient 2), both diagnosed by the description of characteristic clinical features. Conclusions: Ten craniosynostotic clinical forms are currently known as allelic variations of the FGFR genes, and as such have reviewed them. As in our two cases, in syndromic types is very important the accurate study of the phenotype to orientate the diagnosis, although the molecular study will confirm it in many patients and genetic counselling offered(AU)

Expansión posterior con resortes y avance fronto-orbitario simultáneo en craneosinostosis sindrómicas / Spring-assisted posterior expansion and simultaneous fronto-orbitary expansion in syndromic cranyosinostosis

Las craneoestenosis sindrómicas son anomalías congénitas de difícil resolución y requieren generalmente varios procedimientos quirúrgicos. La expansión posterior de la calota permite disminuir la hipertensión endocraneana y sus efectos sobre el cerebro. La utilización de resortes para la expansión posterior ha demostrado ser un método efectivo y estable, disminuyendo la morbilidad de los procedimientos tradicionales. La combinación de la expansión posterior con resortes y el avance frontoorbitario en una sola etapa, antes del año de vida, disminuye el número de intervenciones necesarias obteniéndose una buena remodelación de la bóveda craneana. Presentamos nuestra experiencia en 3 casos de craneoestenosis sindrómica mediante la realización simultánea de ambos procedimientos con buenos resultados estéticos y funcionales (AU)

Syndromic craniosynostosis is a difficult-to-resolve congenital anomaly generally requiring several surgical procedures. Expansion of the posterior cranial vault diminishes intracranial hypertension and its deleterious effect on the brain. The use of spring-assisted distraction for posterior vault expansion showed to be an effective and stable method with lower morbidity than that seen intraditional procedures. The combination of spring-assisted posterior vault expansion and fronto-orbital advancement in a single stage before one year of life decreases the number of surgical interventions necessary and leads to adequate remodeling of the cranial vault. Here we present 3 cases of syndromic craniosynostosis who simultaneously underwent both procedures with good esthetic and functional results (AU)

Síndrome de Pfeiffer familiar / Familial Pfeiffer syndrome

Presentamos una casuística familiar de síndrome de Pfeiffer, con 15 miembros afectados a lo largo de cuatro generaciones. Los 5 casos pediátricos fueron atendidos y diagnosticados en el Hospital Clínico Universitario de Valladolid entre los años 2002 y 2008, con un seguimiento clínico y radiológico. Se revisa el diagnóstico diferencial con el resto de las craneosinostosis autosómicas dominantes (síndromes de Apert, Crouzon...) y se muestra la heterogeneidad en su expresión clínica de los diferentes probandos en la serie familiar. En cuanto a la genética molecular, estos síndromes familiares comparten mutaciones en el receptor tipo 2 del factor de crecimiento de los fibroblastos (FGFR), si bien el síndrome de Pfeiffer también presenta alteraciones en el FGFR tipo 1.Hoy día es posible también realizar el diagnóstico prenatal mediante ultrasonidos y obtener un mejor pronóstico en las formas familiares con un tratamiento neuroquirúrgico precoz (AU)

We report a family case series of Pfeiffer’s Syndrome, with 15 affected members along 4 generations. 5 pediatric cases were attended and diagnosed in the University Clinical Hospital of Valladolid between 2002-2008, with clinical and radiological follow up. Each case underwent differential diagnosis with the rest of the autosomal dominant craniosynostosis (Apert, Crouzon…)and displayed heterogeneity on its clinical expression. Genetically, the affected members of a family syndrome share mutations in the fibroblast growth factor receptor (FGFR)type 2, while Pfeiffer Syndrome also presents alterations in the type 1 FGFR. Today it is possible in the familial cases, to do prenatal diagnosis by ultrasound and offer an early neurosurgery treatment and a better prognosis (AU)

Varón de 3 años de edad con rasgos dismórficos y craneosinostosis: síndrome de Saethre-Chotzen / A three year old boy with dysmorphic and craniosynostosis traits: Saethre-Chotzen syndrome

Se comunica el caso de un niño con el síndrome de Saethre-Chotzen (acrocefalosindactilia de tipo III), una de las craneosinostosis más frecuentes, y se describe la mutación causal en el gen TWIST (AU)

It is informed of a child with the Saethre-Chotzen syndrome (acrocephalosyndactylia of type III), one of the most frequent craniosynostosis, and it is described as a causal mutation in the TWIST gene (AU)

La ortopodología en el síndrome de Apert

Los autores describen las características morfológicas y funcionales del pie y de la marcha de un niño afectado de un síndrome de Apert. Asimismo proponen varios tratamientos ortopodológicos, y describen su diseño, confección, y aplicación con las técnicas: TAD y sobre molde positivo (AU)

Manejo de la vía aérea en un lactante con síndrome de Apert / Airway management in an infant with Apert's syndrome

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