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Advances and Technical Standards in... 2023Apert syndrome is characterized by a wide spectrum of craniofacial clinical features that have been successfully addressed via a variety of midface advancement... (Review)
Review
Apert syndrome is characterized by a wide spectrum of craniofacial clinical features that have been successfully addressed via a variety of midface advancement techniques. Although surgeons have individual preferences as to which specific procedures should be performed to best treat Apert patients, craniofacial plastic surgeons, working in tandem with pediatric neurosurgeons, can identify and evaluate functional limitations and facial morphologic disproportions, and establish appropriate criteria for effective midface advancement technique indication and selection. The purpose of this review article is to present and discuss our rationale for midface advancement technique selection based upon the most common craniofacial characteristics presented by Apert syndrome patients. The present article also provides a grading system that stratifies as major, moderate, and mild, the effect of each midface advancement technique on the different types of Apert syndrome facial features. Surgeons should take into consideration the maximum effect and benefit of each craniofacial osteotomy and how these procedures will alter the craniofacial skeleton. By understanding the long-term effect of each osteotomy on the most common craniofacial characteristics of Apert syndrome patients, craniofacial plastic surgeons and neurosurgeons will be able to customize the surgical procedures they perform in order to achieve the best possible outcomes.
Topics: Humans; Child; Acrocephalosyndactylia; Retrospective Studies; Osteotomy, Le Fort; Face
PubMed: 37318579
DOI: 10.1007/978-3-031-28202-7_13 -
Oral and Maxillofacial Surgery Clinics... Aug 2022Patients with syndromic craniosynostosis can present with midface hypoplasia, abnormal facial ratios, and obstructive sleep apnea. These symptoms can all be improved... (Review)
Review
Patients with syndromic craniosynostosis can present with midface hypoplasia, abnormal facial ratios, and obstructive sleep apnea. These symptoms can all be improved with midface advancement, but it is essential to evaluate the specific morphologic characteristics of each patient's bony deficiencies before offering subcranial advancement. Midface hypoplasia in Crouzon syndrome is evenly distributed between the central and lateral midface and reliably corrected with Le Fort III distraction. In contrast, the midface hypoplasia in Apert/Pfeiffer syndromes occurs in both an axial and a sagittal plane, with significantly more nasomaxillary hypoplasia compared with the orbitozygomatic deficiency.
Topics: Craniofacial Dysostosis; Craniosynostoses; Face; Humans; Osteogenesis, Distraction; Osteotomy, Le Fort
PubMed: 35787822
DOI: 10.1016/j.coms.2022.01.002 -
Oral and Maxillofacial Surgery Clinics... Aug 2022Patients with syndromic and nonsyndromic synostosis may have end-stage skeletal discrepancies involving the lower midface and mandible, with associated malocclusion.... (Review)
Review
Patients with syndromic and nonsyndromic synostosis may have end-stage skeletal discrepancies involving the lower midface and mandible, with associated malocclusion. While orthognathic surgical procedures in this population can be reliably executed, the surgeon must be aware of the unique morphologic characteristics that accompany the primary diagnoses as well as the technical challenges associated with performing Le Fort I osteotomies in patients who have undergone prior subcranial midface distraction.
Topics: Craniosynostoses; Facial Bones; Humans; Orthognathic Surgery; Orthognathic Surgical Procedures; Osteotomy, Le Fort
PubMed: 35787829
DOI: 10.1016/j.coms.2022.01.003 -
The Journal of Craniofacial Surgery 2020The purpose of this study is to review 10 years of surgical experience in the management of Apert syndrome, focusing on an updated algorithm which includes hand...
BACKGROUND
The purpose of this study is to review 10 years of surgical experience in the management of Apert syndrome, focusing on an updated algorithm which includes hand reconstruction and posterior vault distraction osteogenesis (PVDO). Additionally, the authors compare PVDO, which is currently used, with fronto-orbital advancement (FOA), which was utilized in a previous algorithm.
METHODS
An observational retrospective study was performed on consecutive patients with Apert syndrome who underwent upper and lower limb reconstruction and craniofacial surgery between 2007 and 2017. A modified Clavien-Dindo surgical complication scale was used to stratify complications between PVDO and FOA. Demographic, surgical, and outcome data was also recorded. The blood transfusion rate between PVDO and FOA was also assessed and compared utilizing the Student t test.
RESULTS
The present study included 69 patients with Apert syndrome (34 males and 35 females). Craniofacial surgeries were performed on a total of 38 patients. A total of 210 operations were performed on the respective upper and lower limbs of patients included in this study. A total of 18 patients underwent PVDO (n = 9) and FOA (n = 9). Posterior vault distraction osteogenesis required significantly less transfused blood volume than FOA (P < 0.05). Complication rate and length of hospital stay were similar for each procedure.
CONCLUSION
An updated algorithm to treat Apert patients was implemented. Posterior vault distraction osteogenesis incorporated into an updated algorithm results in a lower blood transfusion rate.
Topics: Acrocephalosyndactylia; Adolescent; Algorithms; Child; Child, Preschool; Female; Humans; Length of Stay; Male; Osteogenesis, Distraction; Plastic Surgery Procedures; Retrospective Studies
PubMed: 31895846
DOI: 10.1097/SCS.0000000000006105 -
The Cleft Palate-craniofacial Journal :... Nov 2015To describe the subtle clinical features, genetic considerations, and management of progressive postnatal pansynostosis, a rare form of multisutural craniosynostosis...
OBJECTIVE
To describe the subtle clinical features, genetic considerations, and management of progressive postnatal pansynostosis, a rare form of multisutural craniosynostosis that insidiously occurs after birth and causes inconspicuous cranial changes. Design, Participants, Setting : The study is a retrospective chart review of all patients diagnosed with progressive postnatal pansynostosis at a major craniofacial center between 2000 and 2009. Patients with kleebattschädel were excluded.
RESULTS
Nineteen patients fit our inclusion criteria. Fifteen patients had a syndromic diagnosis: Crouzon syndrome (n = 8), Saethre-Chotzen syndrome (n = 5), and Pfeiffer syndrome (n = 2). With the exception of one patient with moderate turricephaly, all patients had a relatively normal head shape with cranial indices ranging from 0.72 to 0.93 (mean, 0.81). Patients were diagnosed at an average of 32.4 months; craniosynostosis was suspected based on declining percentile head circumference (n = 14), detection of an apical prominence (n = 12), papilledema (n = 7), and worsening exorbitism (n = 3). Nearly all patients had evidence of increased intracranial pressure.
CONCLUSION
Progressive postnatal pansynostosis is insidious; diagnosis is typically delayed because the clinical signs are subtle and appear gradually. All infants or children with known or suspected craniosynostotic disorder and a normal head shape should be carefully monitored; computed tomography is indicated if there is any decrease in percentile head circumference or symptoms of intracranial pressure.
Topics: Abnormalities, Multiple; Acrocephalosyndactylia; Child, Preschool; Craniofacial Dysostosis; Craniosynostoses; Disease Progression; Female; Growth Disorders; Hearing Loss, Sensorineural; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Retrospective Studies
PubMed: 25350344
DOI: 10.1597/14-092 -
Facial Plastic Surgery Clinics of North... Feb 2024This article reviews the most common craniofacial syndromes encountered in clinical practice. Key physical features of each condition are highlighted to aid in accurate... (Review)
Review
This article reviews the most common craniofacial syndromes encountered in clinical practice. Key physical features of each condition are highlighted to aid in accurate recognition and diagnosis. Optimal individualized treatment approaches are discussed.
Topics: Humans; Physical Examination; Syndrome
PubMed: 37981410
DOI: 10.1016/j.fsc.2023.07.002 -
Journal of Cranio-maxillo-facial... Sep 2016Apert syndrome is a rare congenital malformation with severe craniofacial anomalies. The aim of this study was to review the outcomes of craniofacial and neurosurgical...
PURPOSE
Apert syndrome is a rare congenital malformation with severe craniofacial anomalies. The aim of this study was to review the outcomes of craniofacial and neurosurgical interventions in Apert syndrome patients treated at a single institution.
MATERIALS AND METHODS
A retrospective review of all patient records with a diagnosis of Apert syndrome assessed and managed in the Australian Craniofacial Unit (ACFU) from 1985 to 2013 was conducted.
RESULTS
A total of 94 patients were identified, and 130 transcranial procedures were performed. Of the patients, 83 underwent a fronto-orbital advancement (FOA) as their primary procedure, and 18 patients also underwent a posterior vault procedure. Twenty patients underwent a fronto-facial monobloc advancement. Overall, 70% of patients underwent at least 2 transcranial procedures. Shunts were inserted in 2 patients preoperatively and in 5 patients postoperatively for cerebrospinal fluid (CSF) leaks or acute hydrocephalus. Re-do FOAs were performed in 8 patients. Patients who underwent an FOA at the age of more than 18 months had no recurrence of raised intracranial pressure (ICP). Of 18 patients who also underwent a posterior vault procedure, 1 patient had recurrence of raised ICP. Midfacial surgery was performed early if there was evidence of obstructive sleep apnoea (OSA), but delayed midfacial surgery was preferred. Complications were reported in 18% of procedures. The most common complications were CSF leaks and acute hydrocephalus.
CONCLUSION
Shunting is rarely required in Apert syndrome patients, confirming a predominantly nonprogressive ventriculomegaly. FOA appears to be a more stable procedure when performed at an age of more than 18 months. Undergoing a posterior vault procedure may reduce the risk of recurrent raised ICP and lead to fewer transcranial procedures needed in childhood. Midfacial surgery should be delayed until adolescence where there is no evidence of OSA, psychological disturbance, or complications of exorbitism. Complications are rare when these patients are treated by an experienced craniofacial team.
Topics: Acrocephalosyndactylia; Adolescent; Adult; Australia; Child; Child, Preschool; Female; Humans; Infant; Male; Neurosurgical Procedures; Plastic Surgery Procedures; Retrospective Studies; Treatment Outcome
PubMed: 27378001
DOI: 10.1016/j.jcms.2016.06.001 -
Maedica Dec 2022Craniosynostosis is a congenital anomaly defined as early ossification of the cranial sutures. It is a rare pathology worldwide, implicitly also in our country, with a...
Craniosynostosis is a congenital anomaly defined as early ossification of the cranial sutures. It is a rare pathology worldwide, implicitly also in our country, with a prevalence of 1:2100-1:2500. However, it represents a condition with potentially severe complications in terms of patient functionality. At the same time, not much research has been done in this field. Thus, it was considered useful to conduct a study on the epidemiology of craniosynostosis in Bihor county. The present study had the following objectives: updating epidemiological data; analysis of the clinical data of the study group; identification of risk factors in the occurrence of the disease; evaluating the prospects for a genetic approach to the disease, including genetic testing and genetic counseling. This is a retrospective cross-sectional study. Data from a cohort of 35 patients were collected using the database which were made available by the Bihor Regional Center for Medical Genetics. Only patients with imaging-confirmed craniosynostosis in the last three decades were included in the study. Most patients were diagnosed in the age range of one month - one year, the mean being 197 days. The most frequently affected suture was the sagittal suture (60%) and the least affected one the metopic suture (5%). Combined lesions were present in three cases. The majority (75%) of cases were isolated craniosynostosis, with the remaining 25% being diagnosed in the context of a genetic syndrome (most frequently Apert syndrome). Throughout the three explored decades, a significant increase in the number of cases was observed. The most commonly affected groups included male patients, those from rural areas, those born after year 2000, especially from 2011 to the present. Most cases were isolated craniosynostosis. Heredo-collateral antecedents were insignificant. Three risk factors were present, including male sex, maternal smoking during pregnancy and advanced parents' ages. Complications of the disease were rare and a minority of patients benefited from surgical treatment. Genetic counseling is an important component of disease prevention and should be offered as soon as possible.
PubMed: 36818258
DOI: 10.26574/maedica.2022.17.4.893 -
Atlas of the Oral and Maxillofacial... Mar 2022
Review
Topics: Craniosynostoses; Humans; Infant; Orbit; Plastic Surgery Procedures
PubMed: 35256112
DOI: 10.1016/j.cxom.2021.11.013 -
Plastic and Reconstructive Surgery Sep 2019Apert syndrome is frequently combined with respiratory insufficiency, because of the midfacial deformity which, in turn, is influenced by the malformation of the skull...
BACKGROUND
Apert syndrome is frequently combined with respiratory insufficiency, because of the midfacial deformity which, in turn, is influenced by the malformation of the skull base. Respiratory impairment resulting from Apert syndrome is caused by multilevel limitations in airway space. Therefore, this study evaluated the segmented nasopharyngeal and laryngopharyngeal anatomy to clarify subcranial anatomy in children with Apert syndrome and its relevance to clinical management.
METHODS
Twenty-seven patients (Apert syndrome, n = 10; control, n = 17) were included. All of the computed tomographic scans were obtained from the patients preoperatively, and no patient had confounding disease comorbidity. Computed tomographic scans were analyzed using Surgicase CMF. Craniometric data relating to the midface, airway, and subcranial structures were collected. Statistical significance was determined using t test analysis.
RESULTS
Although all of the nasal measurements were consistent with those of the controls, the nasion-to-posterior nasal spine, sphenethmoid-to-posterior nasal spine, sella-to-posterior nasal spine, and basion-to-posterior nasal spine distances were decreased 20 (p < 0.001), 23 (p = 0.001), 29 (p < 0.001), and 22 percent (p < 0.001), respectively. The distance between bilateral gonions and condylions was decreased 17 (p = 0.017) and 18 percent (p = 0.004), respectively. The pharyngeal airway volume was reduced by 40 percent (p = 0.01).
CONCLUSION
The airway compromise seen in patients with Apert syndrome is attributable more to the pharyngeal region than to the nasal cavity, with a gradually worsening trend from the anterior to the posterior airway, resulting in a significantly reduced volume in the hypopharynx.
Topics: Acrocephalosyndactylia; Child; Child, Preschool; Female; Humans; Infant; Larynx; Male; Nasopharynx; Retrospective Studies
PubMed: 31461034
DOI: 10.1097/PRS.0000000000005937