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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 -
Birth Defects Research. Part A,... Sep 2014Apert syndrome is a genetic disorder known as acrocephalopolysyndactyly type 1 caused by mutations in the fibroblast growth factor receptor 2 and characterized by...
Apert syndrome is a genetic disorder known as acrocephalopolysyndactyly type 1 caused by mutations in the fibroblast growth factor receptor 2 and characterized by coronal craniosynostosis, symmetric bone and skin syndactyly of hands and feet, and craniofacial dysmorphic features. The estimated prevalence of this syndrome is 10 to 15.5 cases per 1,000,000 live births. Apert syndrome has considerable clinical variability. We present a case of Apert syndrome and associated features reported to the National Registry of Congenital Anomalies of Argentina (RENAC). The reported case had omphalocele, esophageal atresia, and mega cisterna magna. The last two signs were reported several times as part of the clinical presentation of Apert syndrome. To our knowledge, this is the second reported case diagnosed with Apert syndrome associated with omphalocele.
Topics: Acrocephalosyndactylia; Amniocentesis; Argentina; Esophageal Atresia; Hernia, Umbilical; Humans; Infant, Newborn; Intestinal Atresia; Karyotyping; Male; Mutation; Receptor, Fibroblast Growth Factor, Type 2; Registries; Ultrasonography
PubMed: 25045033
DOI: 10.1002/bdra.23270 -
Plastic and Reconstructive Surgery Sep 2019
Topics: Acrocephalosyndactylia; Craniofacial Dysostosis; Humans
PubMed: 31461035
DOI: 10.1097/PRS.0000000000005999 -
Plastic and Reconstructive Surgery Jan 2005Apert syndrome, first described in 1906, is one of the most severe of the craniosynostosis syndromes and is further characterized by midface hypoplasia, syndactyly, and... (Review)
Review
Apert syndrome, first described in 1906, is one of the most severe of the craniosynostosis syndromes and is further characterized by midface hypoplasia, syndactyly, and other visceral abnormalities. Affected individuals generally require lifelong management by a multidisciplinary team of health care specialists. Apert syndrome results almost exclusively from one or the other of two point mutations in fibroblast growth factor receptor 2. Tremendous scientific advances have been made recently in understanding the molecular basis for Apert syndrome through clinical genetic, biochemical, and structural approaches. In this review, the authors provide the clinician with a basic overview of these findings and their therapeutic implications.
Topics: Acrocephalosyndactylia; Alternative Splicing; Amino Acid Substitution; Codon; Female; Fibroblast Growth Factor 2; Genes, Dominant; Humans; Hydrogen Bonding; Infant, Newborn; Male; Models, Molecular; Mutation, Missense; Paternal Age; Phenotype; Point Mutation; Protein Binding; Protein Conformation; Protein Isoforms; Receptor Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 2; Receptors, Fibroblast Growth Factor; Structure-Activity Relationship
PubMed: 15622262
DOI: No ID Found -
Scientific Reports Apr 2022This meta-analysis aims to compare Apert syndrome (AS) patients with non-AS populations (not clinically or genetically diagnosed) on craniofacial cephalometric... (Meta-Analysis)
Meta-Analysis
This meta-analysis aims to compare Apert syndrome (AS) patients with non-AS populations (not clinically or genetically diagnosed) on craniofacial cephalometric characteristics (CCC) to combine publicly available scientific information while also improving the validity of primary study findings. A comprehensive search was performed in the following databases: PubMed, Google Scholar, Scopus, Medline, and Web of Science, an article published between 1st January 2000 to October 17th, 2021. PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines were followed to carry out this systematic review. We used the PECO system to classify people with AS based on whether or not they had distinctive CCC compared to the non-AS population. Following are some examples of how PECO has been used: People with AS are labeled P; clinical or genetic diagnosis of AS is labeled E; individuals without AS are labeled C; CCC of AS are labeled O. Using the Newcastle-Ottawa Quality-Assessment-Scale, independent reviewers assessed the articles' methodological quality and extracted data. 13 studies were included in the systematic review. 8 out of 13 studies were score 7-8 in NOS scale, which indicated that most of the studies were medium to high qualities. Six case-control studies were analyzed for meta-analysis. Due to the wide range of variability in CCC, we were only able to include data from at least three previous studies. There was a statistically significant difference in N-S-PP (I: 76.56%; P = 0.014; CI 1.27 to - 0.28) and Greater wing angle (I: 79.07%; P = 0.008; CI 3.07-1.17) between AS and control subjects. Cleft palate, anterior open bite, crowding in the upper jaw, and hypodontia occurred more frequently among AS patients. Significant shortening of the mandibular width, height and length is the most reported feature in AS patients. CT scans can help patients with AS decide whether to pursue orthodontic treatment alone or to have their mouth surgically expanded. The role of well-informed orthodontic and maxillofacial practitioners is critical in preventing and rehabilitating oral health issues.
Topics: Acrocephalosyndactylia; Cephalometry; Cleft Palate; Humans; Research Report
PubMed: 35383244
DOI: 10.1038/s41598-022-09764-y -
Journal of Cranio-maxillo-facial... Feb 2017Apert Syndrome is a congenital condition characterised by primary craniosynostosis, midfacial malformations and complex symmetrical malformations of the hands and feet....
INTRODUCTION
Apert Syndrome is a congenital condition characterised by primary craniosynostosis, midfacial malformations and complex symmetrical malformations of the hands and feet. The hands demonstrate one of the most complex collections of congenital upper limb deformities, posing a significant challenge for the paediatric hand surgeon. This study examines the extant literature and current practice of the four UK specialist craniofacial units regarding the management of Apert hands in order to provide a basis for guideline development.
METHODS
The current literature was reviewed. Survey-type questionnaires were distributed to the four UK specialist craniofacial units and responses analysed.
RESULTS
Management of the Apert hand is largely dictated by the degree of malformation present. Although all units aim to achieve a five digit hand, variation in the timing of surgery, operative protocols and mobilisation policies exist.
CONCLUSION
The results of this study provide an interesting snapshot of the current management of Apert hands across four UK craniofacial surgery units. The four UK units remain congruent on most areas surrounding the management of Apert hands although some minor inter-unit variation exists. A multidisciplinary approach to management remains fundamental in optimising the regain of function and aesthetically acceptable hands.
Topics: Abnormalities, Multiple; Acrocephalosyndactylia; Hand; Hand Deformities, Congenital; Humans; Practice Patterns, Physicians'; Surveys and Questionnaires
PubMed: 28087285
DOI: 10.1016/j.jcms.2016.11.018 -
British Journal of Plastic Surgery Sep 1993
Topics: Acrocephalosyndactylia; Child; Female; Humans; Shoulder Dislocation
PubMed: 8220867
DOI: 10.1016/0007-1226(93)90234-3 -
Romanian Journal of Morphology and... 2017Apert syndrome - acrocephalosyndactyly - is a rare autosomal dominant disorder representing 1:65 000 cases of living newborns. Characteristic malformations of the Apert...
Apert syndrome - acrocephalosyndactyly - is a rare autosomal dominant disorder representing 1:65 000 cases of living newborns. Characteristic malformations of the Apert syndrome are early craniostenosis, microviscerocranium and II-V finger syndactyly of hand and toes with proximal phalanx of the bilateral thumb "in delta". It is difficult to determine prenatal diagnosis in the second quarter, when examining the morphology of fetal signs; the dysmorphism signs appeared in the third pregnancy quarter. We present here the case of a newborn with Apert syndrome that was born prematurely in our Clinic after a monitored pregnancy, where there was issued a suspicion of cranio-facial dysmorphism, malposition and malformation of the feet and hands in the third quarter of prenatal pregnancy. The diagnosis of Apert syndrome was placed on clinical signs, laboratory and genetic tests. The clinical outcome of the baby in the maternity was favorable, the therapeutic management being established by a multidisciplinary team. Immediate complications were due to the case of prematurity: respiratory distress syndrome and the characteristics of the syndrome: micrognathia and naso-facial dysmorphism, syndactyly, bilateral foot metatarsus adductus.
Topics: Acrocephalosyndactylia; Female; Humans; Infant, Newborn; Pregnancy; Reticulocytosis; Syndactyly
PubMed: 28523332
DOI: No ID Found -
Postgraduate Medicine Mar 1969
Topics: Acrocephalosyndactylia; Adolescent; Female; Humans; Radiography
PubMed: 5783979
DOI: 10.1080/00325481.1969.11697059 -
Clinics in Plastic Surgery Apr 1991Over the past 15 years, conceptual and technical advances have occurred in the management of the infant with Apert syndrome. There is greater understanding and hence... (Review)
Review
Over the past 15 years, conceptual and technical advances have occurred in the management of the infant with Apert syndrome. There is greater understanding and hence documentation of the neurologic and developmental associations of Apert syndrome. The technical progress is measured in the maturation of former ad hoc, if not random, operative craniectomies, to current deliberate planned strategies with regard to management of hydrocephalus, synostosis, orbital expansion, and forehead advancement. The future will likely bring the prenatal diagnosis of Apert syndrome into even greater focus. That notwithstanding, management techniques are likely to change little in the next decade.
Topics: Acrocephalosyndactylia; Cranial Nerve Diseases; Humans; Infant; Intracranial Pressure; Postoperative Care
PubMed: 2065486
DOI: No ID Found