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The Journal of the Association of... Sep 2020
Topics: Acrocephalosyndactylia; Case-Control Studies; Humans
PubMed: 32798349
DOI: No ID Found -
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 -
Child's Nervous System : ChNS :... Feb 2018Apert syndrome is one of the most common craniosynostosis syndrome caused by mutations in genes encoding fibroblast growth factor receptor 2 (FGFR2). It is characterized... (Review)
Review
INTRODUCTION
Apert syndrome is one of the most common craniosynostosis syndrome caused by mutations in genes encoding fibroblast growth factor receptor 2 (FGFR2). It is characterized by multisuture craniosynostosis, midfacial hypoplasia, abnormal skull base development and syndactyly of all extremities. Apert syndrome is associated with a wide array of central nervous system (CNS) anomalies, possibly the cause of the common occurrence of mental deficiency in patients with Apert syndrome. These CNS anomalies can be broadly classified into two groups; (1) those that are primary malformations and (2) those that occur secondary to osseous deformity/malformation.
CONCLUSION
Familiarity with CNS anomalies associated with Apert syndrome is important to both clinicians and radiologist as it impacts on management and prognostication. Cognitive development of patients has been linked to associated CNS anomalies, timing of surgery and social aspects. These associated anomalies can be broadly classified into (1) those that are primary malformations and (2) those that occur secondary to osseous deformity/malformation, as illustrated in our review paper.
Topics: Acrocephalosyndactylia; Craniosynostoses; Humans; Hydrocephalus; Magnetic Resonance Imaging; Skull
PubMed: 29198073
DOI: 10.1007/s00381-017-3670-0 -
The Pan African Medical Journal 2013
Review
Topics: Acrocephalosyndactylia; Adult; Child; Female; Genes, Dominant; Humans; Male; Middle Aged; Pregnancy
PubMed: 23565313
DOI: 10.11604/pamj.2013.14.66.2178 -
The Pan African Medical Journal 2023
Topics: Humans; Acrocephalosyndactylia; Syndactyly; Fingers; Toes
PubMed: 37521759
DOI: 10.11604/pamj.2023.45.24.38946 -
Ryoikibetsu Shokogun Shirizu 2000
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The Journal of the Association of... Sep 2014Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare...
Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations.
Topics: Acrocephalosyndactylia; Finger Phalanges; Fingers; Humans; Male; Middle Aged; Radiography; Skull; Toe Phalanges; Toes
PubMed: 26259326
DOI: No ID Found -
Child's Nervous System : ChNS :... Mar 2019Apert syndrome is a rare form of syndromic craniosynostosis, also known as acrocephalosyndactyly, which is a disorder characterized by a unique set of craniofacial,...
BACKGROUND
Apert syndrome is a rare form of syndromic craniosynostosis, also known as acrocephalosyndactyly, which is a disorder characterized by a unique set of craniofacial, hand, and foot abnormalities. Diagnosis is made through a genetic analysis, where the mutation of FGFR2, Ser252Trp, and Pro253Arg confirms the diagnosis.
CASE PRESENTATION
Although craniosynostosis is the most common characteristic in clinical presentation, we present an atypical case of a one-and-a-half-year-old girl with Apert syndrome confirmed by genetic testing but without craniosynostosis.
Topics: Acrocephalosyndactylia; Craniosynostoses; Female; Humans; Infant
PubMed: 30643948
DOI: 10.1007/s00381-019-04050-1 -
Clinics in Plastic Surgery Apr 1991Apert patients frequently provide a challenge in airway management. For simple procedures, a safe anesthetic plan can be formulated if the anatomic factors affecting the... (Review)
Review
Apert patients frequently provide a challenge in airway management. For simple procedures, a safe anesthetic plan can be formulated if the anatomic factors affecting the airway are carefully considered. More extensive and prolonged craniofacial reconstructive surgeries require more monitoring and include all the problems associated with difficult intubation, hazardous airway management, massive blood loss and fluid shift, and long anesthetic times. After assessment of all these specific needs, the anesthesiologist will be presented with a difficult but not insurmountable risk.
Topics: Acrocephalosyndactylia; Anesthesia, Endotracheal; Humans; Intraoperative Care; Postoperative Complications; Preanesthetic Medication; Risk Factors
PubMed: 2065485
DOI: No ID Found -
The Journal of Craniofacial Surgery Jun 2023The Upton type III hand, which represents the most severe hand type among Apert syndrome patients, has been considered the least prevalent hand type. The objective of...
BACKGROUND
The Upton type III hand, which represents the most severe hand type among Apert syndrome patients, has been considered the least prevalent hand type. The objective of this study is to address type III Apert hand prevalence and describe treatment strategies that will result in a 5 digit hand.
METHODS
The authors retrospectively reviewed 15 years of Apert syndrome hand practice at our hospital. Demographic (patient sex and age at the time of the operation), surgical (eg, techniques used for webspace release, osteotomy, and various aspects of soft-tissue reconstruction), and outcome (perioperative and long-term complication and need for revision operation) data was verified through medical records, clinical photographs, radiographic images, and interviews with patients' families. Patients who had incomplete medical records and/or postoperative follow up <6 months in length were excluded from this study.
RESULTS
A total of 93 Apert patients [50 male (56.1%) and 43 female (43.9%)] were treated at our hospital from 2007 to 2021. Stratification of Apert hand severity using Upton's classification system identified 34 patients with type I hands (36.4%), 19 patients with type II hands (20.6%), and 40 patients with type III hands (43%). Of the 40 patients with type III hands a 5 digit hand was achieved for 35 patients (87%), with an average of 3.37 operations per patient.
CONCLUSIONS
The Upton type III hand is the most prevalent hand type among Apert syndrome patients. Following a three stage protocol, a surgical team can consistently achieve a 5 digit hand for the majority of Apert syndrome patients with type III hands.
Topics: Humans; Male; Female; Acrocephalosyndactylia; Retrospective Studies; Prevalence; Hand; Fingers
PubMed: 36730868
DOI: 10.1097/SCS.0000000000009107