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The Journal of Craniofacial SurgeryWebbed neck is a rare condition characterized by bilateral subcutaneous bands, which extend from approximately the mastoid to the acromion. Given its rarity, the... (Review)
Review
Webbed neck is a rare condition characterized by bilateral subcutaneous bands, which extend from approximately the mastoid to the acromion. Given its rarity, the literature lacks a review of the techniques used in the repair of this condition. We performed a scoping review to define and summarize the surgical techniques been used in the treatment of webbed neck, with the goal of better equipping the surgeons' armamentarium. Two databases, PubMed and Scopus, were searched from inception through December 27, 2021. Studies were considered for inclusion if they (1) described the webbed neck condition and (2) reported results of surgical correction of this condition. Surgical outcomes and follow-up durations were reported as available. Twenty-two manuscripts were analyzed and included data on 60 patients. The most common syndrome associated with webbed neck was Turner syndrome (48 patients). The most frequently documented procedure technique was a Z-Plasty (38 patients). Other procedures described included: butterfly correction, V-Y Plasty, posterior cervical lift, skin excision, tissue expansion plus skin excision, T to M rearrangement, and subcutaneous fascial excision. Documented complications included hypertrophy of procedure scars or webbed neck recurrence. In summary, we present the first full literature review of the surgical techniques used in the repair of webbed neck. When selecting the technique for repair of the webbed neck, function and cosmesis are important considerations. Future studies should collect standardized outcomes data to appropriately assess and compare the described procedures.
Topics: Humans; Neck; Skin Abnormalities; Ear; Turner Syndrome; Tissue Expansion
PubMed: 36409846
DOI: 10.1097/SCS.0000000000008821 -
Oral and Maxillofacial Surgery Jun 2024A webbed neck is a conspicuous deformity that requires meticulous repair. Several surgical techniques are available; however, there is no guideline, or gold standard... (Review)
Review Comparative Study
PURPOSE
A webbed neck is a conspicuous deformity that requires meticulous repair. Several surgical techniques are available; however, there is no guideline, or gold standard technique reference based on webbed neck characteristics. This article aims to conduct a narrative review of the surgical techniques with a comparative study to select those leading to the best aesthetic results and to propose a decision-making algorithm for surgical techniques according to the characteristics of the webbed neck.
METHODS
A narrative review of surgical techniques of the webbed neck was performed by searching the PubMed and Google Scholar databases to summarize their particularities. A comparison of surgical techniques was made according to technicality and outcome characteristics. Clinical features of the webbed neck were reviewed to propose a classification of the webbed neck.
RESULTS
Twenty-five articles were identified describing surgical techniques realized on 66 patients. Durak and Hikade techniques offered better results in the Z-plasty category. The Actaturk technique leads to better outcomes in the posterior approach techniques. Reichenberger and Mehri Turki's techniques were the most suitable lateral approach techniques. Otherwise, four types of webbed necks were defined based on the fibrotic band and the hair pattern.
CONCLUSION
According to the typology of the web, a surgical decision-making algorithm is built to assist surgeons in finding the most suitable selected techniques for an optimal aesthetic result which corresponds to the achievement of a symmetrical neck contour with highly satisfactory hair placement while avoiding noticeable scars and recurrence.
Topics: Humans; Algorithms; Esthetics; Neck; Clinical Decision-Making; Plastic Surgery Procedures
PubMed: 37340235
DOI: 10.1007/s10006-023-01166-2 -
American Family Physician Aug 2007Turner syndrome occurs in one out of every 2,500 to 3,000 live female births. The syndrome is characterized by the partial or complete absence of one X chromosome (45,X... (Review)
Review
Turner syndrome occurs in one out of every 2,500 to 3,000 live female births. The syndrome is characterized by the partial or complete absence of one X chromosome (45,X karyotype). Patients with Turner syndrome are at risk of congenital heart defects (e.g., coarctation of aorta, bicuspid aortic valve) and may have progressive aortic root dilatation or dissection. These patients also are at risk of congenital lymphedema, renal malformation, sensorineural hearing loss, osteoporosis, obesity, diabetes, and atherogenic lipid profile. Patients usually have normal intelligence but may have problems with nonverbal, social, and psychomotor skills. Physical manifestations may be subtle but can include misshapen ears, a webbed neck, a broad chest with widely spaced nipples, and cubitus valgus. A Turner syndrome diagnosis should be considered in girls with short stature or primary amenorrhea. Patients are treated for short stature in early childhood with growth hormone therapy, and supplemental estrogen is initiated by adolescence for pubertal development and prevention of osteoporosis. Almost all women with Turner syndrome are infertile, although some conceive with assisted reproduction.
Topics: Bone Density Conservation Agents; Craniofacial Abnormalities; Female; Heart Defects, Congenital; Hormone Replacement Therapy; Human Growth Hormone; Humans; Infertility, Female; Karyotyping; Osteoporosis; Turner Syndrome
PubMed: 17708142
DOI: No ID Found -
Journal of Cardiovascular Development... Oct 2021Turner syndrome is a rare disorder resulting from complete or partial loss of the second sex chromosome. Common manifestations include delayed growth, premature ovarian... (Review)
Review
Turner syndrome is a rare disorder resulting from complete or partial loss of the second sex chromosome. Common manifestations include delayed growth, premature ovarian failure, congenital heart defects, endocrine disorders, lymphedema, and webbed neck. People with Turner syndrome have significantly increased mortality risk primarily due to cardiovascular abnormalities. The mechanisms that lead to these defects are not completely understood and are obscured by the significant variability of both karyotype and phenotype without consistent correlation between the two. This paper presents a review of the recent literature surrounding the symptoms, mechanisms, diagnosis, and treatment of Turner syndrome with a focus on cardiovascular manifestations. With technological advancements in genetics, the molecular processes of Turner syndrome have begun to be dissected. Certain genes on the X chromosome that typically escape inactivation have been implicated in both specific manifestations and broader risk categories. Recently identified genome-wide epigenetic changes may help explain the variability in presentation. It remains unclear as to how the combination of these factors results in the overall clinical picture, but advances in genomic, genetic, epigenetic, and -omics technology hold promise for providing insights that will improve the medical management of individuals with Turner syndrome.
PubMed: 34821691
DOI: 10.3390/jcdd8110138 -
Polski Przeglad Chirurgiczny Mar 2015Turner's syndrome occurs in approximately 1 out of every 2,000 to 2,500 live-born girls. This genetically determined pathology is characterised by multiple congenital...
Turner's syndrome occurs in approximately 1 out of every 2,000 to 2,500 live-born girls. This genetically determined pathology is characterised by multiple congenital anomalies. A typical form of this syndrome is associated with a lack of one of the sex chromosomes (karyotype 45, X). From the point of view of plastic surgery, one of the most important elements of the therapy is correction of the webbed neck deformity. The aim of the study was to present the possibilities of surgical treatment of a webbed neck of patients with Turner's syndrome and the evaluation of treatment results. In the years 2000-2012, six children with Turner's syndrome were treated because of the webbed neck deformity. The age of patients ranged from 9 to 17 years. In the case of all patients, the aim was to distribute the neck skin folds by using Z-plasty in conjunction with a shift to the back of glabrous skin flaps mobilised from the anterolateral surface of the neck. In the case of four operated patients, the folds were completely removed and a correct symmetrical outline of the neck was obtained. One patient was found to have unilateral moderate webbed neck recurrence after about 2 years of treatment. In one case, the correction was insufficient. The performed surgical procedures enabled correction of low hairline only in the lateral parts of the neck. The lower line of the scalp in the central part of the neck has remained unchanged. The lateral approach with a shift of glabrous skin flap to the back, which we performed, allows for effective reduction of the webbed neck, excision of bands of the connective tissue and correction of the low hairline on the side of the neck. Z-plasty enables an adequate extension of scars and improves the contour of the neck.
Topics: Adolescent; Aortic Coarctation; Child; Dermatologic Surgical Procedures; Female; Humans; Male; Neck; Surgical Flaps; Turner Syndrome
PubMed: 26146109
DOI: 10.1515/pjs-2015-0033 -
Cold Spring Harbor Molecular Case... Apr 2019Advancing the clinical utility of whole-exome sequencing (WES) for patients with suspected genetic disorders is largely driven by bioinformatics approaches that...
Advancing the clinical utility of whole-exome sequencing (WES) for patients with suspected genetic disorders is largely driven by bioinformatics approaches that streamline data processing and analysis. Herein, we describe our experience with implementing a semiautomated and phenotype-driven WES diagnostic workflow, incorporating both the DRAGEN pipeline and the Exomiser variant prioritization tool, at an academic children's hospital with an ethnically diverse pediatric patient population. We achieved a 41% molecular diagnostic rate for 66 duo-, quad-, or trio-WES cases, and 28% for 40 singleton-WES cases. Preliminary results were returned to ordering physicians within 1 wk for 12 of 38 (32%) probands with positive findings, which were instrumental in guiding the appropriate clinical management for a variety of patients, especially in critical care settings. The semiautomated and streamlined WES workflow also enabled us to identify novel variants in candidate disease genes in patients with developmental delay and autism and immune disorders and cancer, including , , , , , and Together, we demonstrated the implementation of a streamlined WES workflow that was successfully applied for both clinical and research purposes.
Topics: Adolescent; Autism Spectrum Disorder; Child; Child, Preschool; Early Diagnosis; Female; Genetic Predisposition to Disease; Humans; Immune System Diseases; Infant; Infant, Newborn; Male; Neoplasms; Sensitivity and Specificity; Time Factors; Exome Sequencing; Workflow; Young Adult
PubMed: 30755392
DOI: 10.1101/mcs.a003756 -
Journal of Paediatrics and Child Health Oct 2014Noonan syndrome is a common autosomal dominant condition, readily recognisable in childhood. It is characterised by a pattern of typical facial dysmorphism and... (Review)
Review
Noonan syndrome is a common autosomal dominant condition, readily recognisable in childhood. It is characterised by a pattern of typical facial dysmorphism and malformations including congenital cardiac defects, short stature, abnormal chest shape, broad or webbed neck, and a variable learning disability. Mildly affected adults may not be diagnosed until the birth of a more obviously affected child. The phenotype is highly variable. Important progress in understanding the molecular basis of this and other related conditions was made in 2001 when germline mutations in the PTPN11 gene were found to account for ∼50% of cases. Since then, mutations in additional genes in the rat sarcoma (RAS) pathway have been identified in a proportion of the remainder. Molecular confirmation of diagnosis is now possible for many families and has become increasingly important in guiding management. Increased awareness by paediatricians will lead to earlier diagnosis, and provide patients and their families with accurate genetic counselling, including options when planning pregnancy.
Topics: Adolescent; Adult; Child; Child, Preschool; Developmental Disabilities; Early Diagnosis; Early Intervention, Educational; Female; Genetic Predisposition to Disease; Genetic Testing; Germ-Line Mutation; Humans; Infant; Infant, Newborn; Male; Noonan Syndrome; Prognosis; Protein Tyrosine Phosphatase, Non-Receptor Type 11; Risk Assessment; Severity of Illness Index; Survival Rate
PubMed: 21771153
DOI: 10.1111/j.1440-1754.2010.01970.x -
American Family Physician Jan 2014Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals...
Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems, hearing loss, and lymphedema. Familial recurrence is consistent with an autosomal dominant mode of inheritance, but most cases are due to de novo mutations. Diagnosis can be made on the basis of clinical features, but may be missed in mildly affected patients. Molecular genetic testing can confirm diagnosis in 70% of cases and has important implications for genetic counseling and management. Most patients with Noonan syndrome are intellectually normal as adults, but some may require multidisciplinary evaluation and regular follow-up care. Age-based Noonan syndrome-specific growth charts and treatment guidelines are available.
Topics: Adolescent; Adult; Age Distribution; Aged; Aged, 80 and over; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Middle Aged; Noonan Syndrome; Young Adult
PubMed: 24444506
DOI: No ID Found -
Facial Plastic Surgery & Aesthetic... 2024Present an excellent outcome for a rare pterygium colli reconstruction. Establish techniques that have yielded a successful aesthetic and functional outcome for a...
Present an excellent outcome for a rare pterygium colli reconstruction. Establish techniques that have yielded a successful aesthetic and functional outcome for a patient with pterygium colli in a procedure that lacks consensus. Surgical pearls-description of considerations for a successful reconstruction. An academic practice. Pediatric patient with Turner's syndrome who underwent neck and auricular reconstruction.
Topics: Humans; Child; Turner Syndrome; Pterygium; Neck; Face; Esthetics
PubMed: 38237133
DOI: 10.1089/fpsam.2023.0299