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American Journal of Obstetrics and... Dec 2019
Topics: Acrocephalosyndactylia; Amniocentesis; Chorionic Villi Sampling; Ciliary Motility Disorders; Diagnosis, Differential; Encephalocele; Female; Genetic Testing; Humans; Imaging, Three-Dimensional; Microarray Analysis; Pallister-Hall Syndrome; Polycystic Kidney Diseases; Polydactyly; Pregnancy; Prognosis; Retinitis Pigmentosa; Sex Distribution; Smith-Lemli-Opitz Syndrome; Trisomy 13 Syndrome; Ultrasonography, Prenatal
PubMed: 31787158
DOI: 10.1016/j.ajog.2019.09.023 -
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 -
Journal of Oral Biology and... 2018Apert syndrome is one of the several genetic syndromes associated with craniosynostosis, a condition that includes premature fusion of one or multiple cranial sutures.... (Review)
Review
Apert syndrome is one of the several genetic syndromes associated with craniosynostosis, a condition that includes premature fusion of one or multiple cranial sutures. There has been significant clinical variation among different sutural synostoses and also within particular suture synostosis. Enormous progress has been made in identifying various mutations associated with Apert Syndrome. Although a causal gene has been defined, the precise role of this mutation in producing craniofacial dysmorphology and other related abnormalities is in the process of discovery. Most of the understanding regarding this rare disorder has been possible due to mouse models that have helped in deciphering the elements of this rare human disease. Thus, molecular and cellular understanding of the disease has taken a leap and further with the advent of technology definitive diagnosis of the syndrome is no more of an issue. In this review, we have discussed and consolidated the possible molecular studies that have contributed in understanding of this rare syndrome. This article may help clinicians and researchers to inform about the latest progress in Apert syndrome.
PubMed: 30191107
DOI: 10.1016/j.jobcr.2017.05.006 -
Journal of Oral Biology and... 2022Apert syndrome (AS) is a rare congenital disorder that correlates with many craniofacial features, like craniosynostosis, midfacial malformation, and symmetrical...
BACKGROUND
Apert syndrome (AS) is a rare congenital disorder that correlates with many craniofacial features, like craniosynostosis, midfacial malformation, and symmetrical syndactyly of the hands and feet.
AIM
This paper describes the facial and oral manifestations in a 20-year-old female previously diagnosed with AS, discusses the complex dental treatment plan and treatments, including the use of a customized toothbrush handle to enhance the patient's brushing ability.
RESULTS
A satisfactory outcome was provided, and the patients quality of life improved significantly due to this comprehensive multi-disciplinary care process.
CONCLUSIONS
Comprehensive examination, extensive medical history reviewed, parental and patient consent are needed to establish a comprehensive treatment plan regarding the special needs of these patients.
PubMed: 35514675
DOI: 10.1016/j.jobcr.2022.04.002 -
[Zhonghua Yan Ke Za Zhi] Chinese... Aug 2016Craniosynostosis(CS), the premature fusion of cranial sutures leading to an abnormal shape and precocious maturity of skull, is classified into Non-syndromic... (Review)
Review
Craniosynostosis(CS), the premature fusion of cranial sutures leading to an abnormal shape and precocious maturity of skull, is classified into Non-syndromic Craniosynostosis (NSC) and Syndromic Craniosynostoses(SC).NCS only has different abnormality of skull according to which cranial suture is involved while extra malformation of midface and limbs present in SCS. Common SCS contains Crouzon Syndrome, Apert Syndrome, Pfeiffer Sydrome, and etc. The clinical manifestation of CS includes malformation of skull, intracranial hypertension, brain hernia, developmental disorder of cerebral function, strabismus, and etc, while SCS has more complex manifestation. Along with the improvement of multidisciplinary cooperation, the ophthalmic complication of CS, like strabismus, is recognised by oculists gradually. This review is summarizing the clinical manifestation, complicated strabismus, pathogenesis and multidisciplinary cure of CS. (Chin J Ophthalmol, 2016, 52: 626-630).
Topics: Craniosynostoses; Humans; Strabismus
PubMed: 27562283
DOI: 10.3760/cma.j.issn.0412-4081.2016.08.018 -
Journal of Korean Neurosurgical Society May 2016Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various... (Review)
Review
Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis.
PubMed: 27226847
DOI: 10.3340/jkns.2016.59.3.187 -
Plastic and Reconstructive Surgery Aug 2022Numerous children born with syndromic craniosynostosis will develop visual impairments. Based on the hypothesis that elevations in intracranial pressure might have... (Review)
Review
BACKGROUND
Numerous children born with syndromic craniosynostosis will develop visual impairments. Based on the hypothesis that elevations in intracranial pressure might have greater impacts on vision than development, this review sought to ascertain the prevalence of optic nerve atrophy in syndromic craniosynostosis and to look for potential predictive factors.
METHODS
The authors conducted a retrospective chart review of all children with syndromic craniosynostosis treated at a single center.
RESULTS
Of 442 patients with syndromic craniosynostosis, complete ophthalmologic records were available for 253. Although no instances of optic nerve atrophy were noted among those with Saethre-Chotzen or Muenke syndromes, an overall 14.7 percent prevalence was noted among those with Apert (7.8 percent), Crouzon (27.9 percent), and Pfeiffer syndromes (23.1 percent), with initial diagnoses occurring at a mean age of 10 years. The presence of a Chiari malformation was found to significantly correlate with the subsequent diagnosis of optic nerve atrophy (OR, 3.544; p = 0.002); however, the timing of the first cranial vault procedure, presence of a ventriculoperitoneal shunt, degree of brachycephaly, number of vault expansions, and diagnosis of sleep apnea, did not show significant associations.
CONCLUSIONS
A substantial percentage of children with Apert, Crouzon, and Pfeiffer syndromes were found to develop optic nerve atrophy, with a prevalence likely to trend higher with longer follow-up. Chiari malformations were the only significant potential predictor for optic nerve atrophy. With the goal of preventing visual losses, more frequent monitoring for raised intracranial pressure with ophthalmologic evaluations and magnetic resonance imaging measurements of optic nerve sheath diameters should be considered.
CLINICAL QUESTION/LEVEL OF EVIDENCE
Risk, III.
Topics: Acrocephalosyndactylia; Arnold-Chiari Malformation; Atrophy; Child; Craniosynostoses; Humans; Infant; Optic Nerve; Retrospective Studies
PubMed: 35671456
DOI: 10.1097/PRS.0000000000009367 -
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 -
Plastic and Reconstructive Surgery Apr 2022The thumbs of patients with Apert syndrome are characteristically short and radially deviated, contributing to functional hand impairment. The authors report a...
BACKGROUND
The thumbs of patients with Apert syndrome are characteristically short and radially deviated, contributing to functional hand impairment. The authors report a two-staged technique for distraction lengthening of the Apert thumb using a robust cohort of pediatric patients.
METHODS
The authors retrospectively reviewed medical records of pediatric patients with Apert syndrome who underwent thumb distraction lengthening between 1999 and 2019. The technique was two-staged: (1) application of uniplanar distractor and phalangeal osteotomy, followed by (2) distractor removal, bone grafting, and fixation. Clinical records, preoperative and postoperative radiographs, and photographs were reviewed.
RESULTS
Twenty-two patients (41 thumbs) with Apert syndrome were identified and treated (mean age at initial distraction, 11.5 years). A mean distraction gap of 31.3 mm was achieved over a median time of 40.0 days. The mean healing index was 26.3 days per centimeter. The thumbnail complex was lengthened a median length of 3.0 mm. The median follow-up time was 5.0 years, with complications occurring in 36.4 percent (eight out of 22) of patients. A delayed bone union occurred in one patient, and rotational malunion occurred in one patient.
CONCLUSION
Although long-term outcomes data are needed, thumb distraction lengthening following syndactyly release in patients with Apert syndrome is safe and should be considered to augment the overall appearance and functionality of the hand.
CLINICAL QUESTION/LEVEL OF EVIDENCE
Therapeutic, IV.
Topics: Acrocephalosyndactylia; Child; Finger Phalanges; Hand; Humans; Osteogenesis, Distraction; Retrospective Studies; Thumb
PubMed: 35157629
DOI: 10.1097/PRS.0000000000008929 -
Cureus Oct 2023Apert syndrome (AS), also known as type I acrocephalosyndactyly, is a rare congenital condition characterized by craniosynostosis resulting from missense mutations in... (Review)
Review
Apert syndrome (AS), also known as type I acrocephalosyndactyly, is a rare congenital condition characterized by craniosynostosis resulting from missense mutations in the fibroblast growth factor receptor 2 () gene. This comprehensive review delves into AS, covering its clinical manifestations, genetics, diagnosis, medical management, psychosocial considerations, and future research directions. AS presents with distinct features, including a brachycephalic skull, midface hypoplasia, and limb anomalies such as syndactyly. It follows an autosomal dominant inheritance pattern with mutations in the gene. Prenatal diagnosis is possible through advanced imaging techniques and molecular testing. The multidisciplinary approach to AS management involves surgical interventions, orthodontics, and psychological support. Although no curative treatment exists, early interventions can significantly improve function and aesthetics. The quality of life for AS patients is influenced by psychosocial factors, necessitating comprehensive support for both patients and their families. Future research directions include gene therapy, understanding cellular responses to mutations, and addressing genetic heterogeneity. Collaborative efforts are vital to advancing knowledge about AS and its genetic underpinnings. Overall, this review serves as a valuable resource for healthcare professionals, educators, and researchers, contributing to a deeper understanding of AS and facilitating advancements in diagnosis and treatment.
PubMed: 38021759
DOI: 10.7759/cureus.47281