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The Le Fort I osteotomy: it was a classical osteotomy in the left side and a High Le Fort I in the right side.
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Background: Hemifacial microsomia (HM) is a syndrome characterized by the presence of structural alterations of the skeletal, nervous, vascular, and muscular structures derived from the first and second branchial arch. Goldenhar syndrome (Gs) consistisof the triad of craniofacial microsomia, ocular dermoid cysts, and spinal anomalies.
When the pati...
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Goldenhar syndrome (GS) is a rare congenital anomaly involving the first and second branchial arches. It is an autosomal dominant genetic disorder in which there is abnormal prenatal development of the head and face leading to the subsequent asymmetry of craniofacial structures. It is generally sporadic, with its incidence ranging from 1:3,500 to 1...
Goldenhar syndrome has reported incidence ranging from 1:3500 to 1:20000 live births. It consists of abnormalities involving the first and the second branchial arches and its etiology is heterogenous. A newborn with this condition can have a normal life and intelligence, so it is important to correctly diagnose and manage the various conditions ass...
El síndrome de Goldenhar es un trastorno de nacimiento caracterizado por la presencia de anomalías congénitas que afectan el ojo, las orejas, uno o ambos lados de la cara, así como la columna vertebral, además, puede influir en otras áreas del cuerpo, incluyendo el desarrollo de la mandíbula. La presente investigación tuvo como objetivo general, pr...
Craniofacial microsomia (CFM) is characterized by unilateral or bilateral underdevelopment of the facial structures arising from the first and second pharyngeal arches, but extracraniofacial anomalies may also be present. This retrospective study provides an overview of the prevalence, types, and characteristics of extracraniofacial anomalies in pa...
Citations
... Some studies cite growth unpredictability and ankylosis as concerns with rib. However, aberrant growth seems to be minimized by limiting the amount of cartilaginous component to 1 to 2 mm (46,47). ...
Hemifacial microsomia (HFM) is a sporadic congenital malformation of the craniofacial structures derived from the first and second branchial arches. The incidence of HFM has been reported to range from 1 in 3,0001 to 1 in 26,0002 live births, making HFM the second most common congenital malformation in the face after cleft lip and/or palate. An 11-year-old girl came at Galeazzi Institute (Milan) in January 2017. She presented left hemifacial microsomia with absence of the left ramus of mandible and the left temporomandibular joint (tmj), part of the zygomatic arch, hypoplasia of the lateral and inferior orbital bone and of the zygomatic bone. She also presented a medial canthal dystopia. She underwent to costochondral bone graft and calvaria bone graft for reconstruction of part of the mandible and the TMJ. An emi-Le Fort I, emi-Le Fort III, and sagittal segmental osteotomy of the right mandible were performed to improve the correct occlusion. Traditionally, the costochondral graft has been considered the gold standard for ramus-condyle reconstruction in the pediatric mandible when appropriate. Some studies cite growth unpredictability and ankylosis as concerns with rib. Further studies examining carefully the factors predicting graft growth, such as size of cartilage cap, surgical technique, and postoperative physiotherapy, are warranted. © 2018, CIC Edizioni Internazionali s.r.l. All Rights Reserved.
... In CP, one gene has been identified, but many more are probably involved (64,65). More studies are needed to have a multidisciplinary idea of primary factors affecting CL±P since it is important not only for non-syndromic (1-7, 9-24, 26-32, 40, 42-44, 47-57, 59, 60, 66-74) but also in syndromic condition (61)(62)(63)(75)(76)(77)(78)(79)(80)(81)(82)(83)(84)(85)(86)(87)(88)(89)(90)(91)(92). However, despite all the studies to identify the genetic and environmental aetiology of CL±P, published data are controversial and more studies are needed to define CL±P causes. ...
Cleft of the lip and/or palate (CL±P) is the most common congenital craniofacial anomaly affecting around 1 in 700 live births worldwide. Clefts of the human face can be classified anatomically as cleft lip only (CL), cleft palate only (CP), cleft lip and palate (CLP) or a combined group of cleft lip with or without cleft palate (CL±P), based on differences in embryologic development. CL±P has a genetic base and several linkage and association analyses have been performed in order to obtain important information about the role of candidate genes in its onset; not less important are gene-environment interactions that play an increasing role in its aetiology. In CL±P, several loci have been seen associated with the malformation, and, in some cases, a specific gene mapping in a locus has also been identified as susceptibility factor. In CP, one gene has been found, but many more are probably involved. In this short review the genetic studies carried out on CL±P, and the interaction with environmental factors (alcohol, smoking, drugs) are discussed.
Cleft palate only (CPO) is one of the most common congenital malformations worldwide. The etiopathogenesis of CPO is not completely understood. Environmental factors, such as smoking, alcohol consumption, intake of drugs during pregnancy, advanced paternal age, have been demonstrated to be a risk of CPO, but conflicting results have also been published. Insufficient intake of folic acid during the pregnancy has been suggested to increase the risk for CPO. The demonstrated risk for siblings and the higher risk for monozygotic twins suggest a genetic etiopathogenesis for CPO. In some cases of CPO a prevalent mode of inheritance has been reported, but oligogenic models with reduced penetrance, and the risk related to environmental factors have also been proved. One of the first manifestations associated with CPO is difficulty with feeding. Aerophagia is a problem in these infants with CPO and requires more frequent burping and slower feeding. The inability to generate intraoral breath pressure due to nasal air emission in CPO children frequently manifests as articulation difficulties, particularly consonant weakness, and unintelligible speech. Hearing disorders are prevalent among individuals with CPO, as a result of chronic otitis media with effusion due to eustachian tube dysfunction. A multidisciplinary team is essential to manage the many aspects of CPO. In treating CPO, the reconstructive surgeon works in cooperation with otolaryngologists, dentists and orthodontists, speech pathologists, audiologists, geneticists, psychiatrists, maxillofacial surgeons, social workers, and prosthodontists. CPO can be considered a genetically complex disease, but new knowledge and new therapeutic approaches have greatly improved the quality of life of these children. Prenatal diagnosis is an important step in the treatment of this disease.
