Manejo odontológico de una paciente con síndrome de Apert / Dental management of a patient with Apert syndrome

El síndrome de Apert, marcado por la acrocéfalo-sindactilia, es una condición genética que genera deformidades dentofaciales incluyendo craneosinostosis, alteraciones faciales y malformaciones en extremidades. La mutación en el gen FGFR2, ya sea heredada o resultante de mutaciones esporádicas, desencadena esta compleja condición. La relevancia de abordar el síndrome de Apert se manifiesta no sólo en las implicaciones estéticas, sino también en su impacto en la salud oral. Romper con los paradigmas odontológicos actuales implica reconocer las particularidades de estos pacientes y proporcionar una atención especializada. La necesidad de una capacitación específica para los profesionales de la salud oral es evidente, permitiendo un enfoque integral que aborde la prevención y el tratamiento de las malformaciones craneofaciales asociadas. Superar los desafíos tradicionales implica adoptar una perspectiva inclusiva y personalizada en la atención odontológica. Esto no sólo mejora la calidad de vida de los pacientes con síndrome de Apert, sino que también destaca la importancia de una atención adaptada que trascienda los límites convencionales, ofreciendo soluciones innovadoras para las complejidades bucodentales asociadas a esta condición genética (AU)

Apert syndrome, marked by acrocephalosyndactyly, is a genetic condition that generates dentofacial deformities, including craniosynostosis, facial alterations and limb malformations. Mutation in the FGFR2 gene, whether inherited or resulting from sporadic mutations, triggers this complex condition. The relevance of addressing Apert syndrome is manifested not only in the aesthetic implications, but also in its impact on oral health. Breaking with current dental paradigms involves recognizing the particularities of these patients and providing specialized care. The need for specific training for dental health professionals is evident, allowing a comprehensive approach that addresses the prevention and treatment of associated craniofacial malformations. Overcoming traditional challenges means taking an inclusive and personalized perspective on dental care. This not only improves the quality of life of patients with Apert syndrome, but also highlights the importance of tailored care that transcends conventional boundaries, offering innovative solutions for the oral complexities associated with this genetic conditio (AU)

Apert Syndrome Presenting with Omphalocele

Apert syndrome is a congenital acrocephalosyndactylysyndrome. It is mainly presented by craniosynostosis,syndactyly of the hands and feet and dysmorphic facialfeatures. The condition has an autosomal dominantinheritance assigned to mutations in the FibroblastGrowth Factor Receptors (FGFR-2) gene. The reportedcase is a 9 months old boy with clinical suspicion ofApert syndrome as he had turricephaly, stubby handswith short fingers, omphalocele measuring 10 × 10 cm,bilateral undescended testes, Congenital TalipesEquinovarus (CTEV) and polydactyl and syndactyl ofgreat and second toes. He was developmentallynormal. The omphalocele was surgically repaired.Early diagnosis and intervention helps rehabilitation ofpatients with Apert syndrome and help them to lead abetter life.

A Case of Prenatally Diagnosed Apert syndrome / 대한산부인과학회잡지

Apert syndrome or acrocephalosyndactyly is a rare developmental deformity with a sporadic or autosomal dominant trait characterized by coronal craniosynostosis, midface hypoplasia, exorbitism, typical symmetrical syndactyly of both hands and feet with varying degrees of mental retardation. It results from a mutation of the fibroblast growth factor receptor type-2 (FGFT2) gene. In the absence of family history, prenatal diagnosis may be difficult based on ultrasonographic findings alone. The original description was presented by Apert in 1906 with nine cases. Since then more than 200 cases have been reported in the world. We report a case of Apert syndrome diagnosed prenatally by ultrasonogram in the third trimester and subsequently was terminated, with a brief review of prenatal sonographic findings in 11cases reported in literature.

A case of Apert's Syndrome(Acrocophalosyndactyly) with Fibroblast Growth Factor Receptor 2 Exon IIIa Mutation

Apert syndrome is an uncommon congenital disorder characterized by malformation of the skull in association with symmetrical syndactyly of both hands and feet. This syndrome is autosornal dominant. The original description was presented by Apert in 1906. Since then more than 200 cases have been reported in the world. Recently, we experienced a case of newhorn male infant with congenital anomalies of the skull and extremities. Molecular biologically, he was found to have Ser252Try mutation in the FGFR2 exonIIIa. A brief review of literature was made.

Pfeiffer Syndrome / 대한정형외과학회잡지

Pfeiffer syndrome, an unusual type of acrocephalosyndactyly, is a complex of associated malformations, first described by Pfeiffer in 1964. In addition to the common head and face anomalies seen in other acrocephalosyndactylies, its characteristics are broad thumbs and big toes, minimal syndactyly and normal intelligence. It is inherited in autosomal dominant pattern and shows various clinical features. The author's case was a 7-year old boy, who had been managed since birth for bilateral congenital resistant clubfeet including cast correction for six months and two operations. At present he represents not only the common features described above but also some unique features, e.g. pectus excavatum, posterior dislocation of both elbows, mild genu valgum, metatarsus adductus and complex malalignment of carpal and tarsal bones. To our knowledge, there is no report on Pfeiffer syndrome in Korea. The authors report a case of Pfeiffer syndrome with review of literatures.