RESUMEN
Frontofacial monobloc advancement is one of the most rewarding techniques for correcting aesthetic and functional problems of patients with severe craniofacial synostosis, which can advance the upper and middle third of the face simultaneously. Application of gradual distraction technique has been reported to reduce notorious risks after a frontofacial monobloc advancement. The so-called "bibloc advancement" is a derivative of the frontofacial monobloc advancement. "Facial bloc" is horizontally divided into 2 different components: fronto-orbital component and maxillozygomatic component. From a different angle, it can be described as a combination of fronto-orbital advancement and Le Fort III advancement. Two pairs of distracters (1 internal for the supraorbital area and 1 external for the maxillozygomatic area with a pair of cross-facial pinning) were applied after the so-called bibloc osteotomy. Advancement of the upper and middle third of the face was done individually. This technique can be a good option for treating infants with severe syndromic craniofacial synostosis.
Asunto(s)
Disostosis Craneofacial/cirugía , Osteogénesis por Distracción/métodos , Acrocefalosindactilia/cirugía , Huesos Faciales/cirugía , Femenino , Humanos , Lactante , Órbita/cirugía , Osteogénesis por Distracción/instrumentación , Osteotomía Le Fort/instrumentación , Osteotomía Le Fort/métodos , Procedimientos de Cirugía Plástica/instrumentación , Procedimientos de Cirugía Plástica/métodosRESUMEN
Sotos syndrome is caused by the haploinsufficiency of the NSD1 gene located in 5q35. More than 70% of the Japanese cases carry microdeletions encompassing of this gene, while point mutations are common in Caucasians. Only 15 familial cases of Sotos syndrome have been reported and all cases shown to have not microdeletions but point mutations. We identified the first Japanese familial case (mother and 3 children). They carry the same mutation at splice donor site of intron 13 (IVS13+1G>A), which results in the in-frame skipping of exon 13. This is also the first familial case caused by the mutation of the splice donor site. Each member of this family showed variable phenotypes and mental development. The present report will contribute to further understanding of genotype-phenotype correlation in Sotos syndrome.
