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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 -
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 -
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 -
Clinics in Plastic Surgery Jan 2016All patients with a cleft lip deformity have an associated nasal deformity that varies in degree of severity. A three-dimensional understanding of the anatomy of the... (Review)
Review
All patients with a cleft lip deformity have an associated nasal deformity that varies in degree of severity. A three-dimensional understanding of the anatomy of the cleft nose aids surgeons in selecting the proper technique for repair. Analysis and performance of orthognathic surgery should be done before nasal surgery to optimize the overall result. Goals of the secondary rhinoplasty include relief of nasal obstruction, creation of symmetry and definition of the nasal base and tip, and management of nasal scarring and webbing. Septal reconstruction in the cleft nose is a key maneuver in cleft rhinoplasty.
Topics: Cleft Lip; Humans; Nose; Rhinoplasty
PubMed: 26616710
DOI: 10.1016/j.cps.2015.09.016 -
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 -
BMJ Case Reports Mar 2023Genetic conditions have varied presentations, and one of them is the association with multiple malformation syndrome (MMS), which has a high mortality rate in the...
Genetic conditions have varied presentations, and one of them is the association with multiple malformation syndrome (MMS), which has a high mortality rate in the immediate postnatal period. Here, we describe a neonate born with multiple anomalies-wide anterior and posterior fontanelle, metopic suture, flat nasal bridge, hypertelorism, low set dysplastic ears, corneal cloudiness, micrognathia, webbed neck, simian crease, undescended testis, hypospadias, congenital talipes equinovarus, hypoplastic inferior cerebellar vermis, poor reflexes, hypotonia and ventricular septal defect. There was a history of sibling death with similar malformations, pointing towards a genetic aetiology. Clinical exome sequencing yielded the diagnosis of Zellweger syndrome with a rare mutation in gene. Inherited metabolic syndromes frequently masquerade as malformations, but family history of an affected sibling and clinical suspicion aided diagnosis of the infant.
Topics: Infant; Infant, Newborn; Male; Humans; Zellweger Syndrome; Heart Septal Defects, Ventricular; Abnormalities, Multiple; Mutation; Clubfoot
PubMed: 36931687
DOI: 10.1136/bcr-2022-252014 -
Journal of the American Academy of... Apr 2020Sprengel deformity is the main congenital shoulder deformity seen in children. First described by Otto Sprengel in 1891, it consists of a high-riding, dysplastic, and...
UNLABELLED
Sprengel deformity is the main congenital shoulder deformity seen in children. First described by Otto Sprengel in 1891, it consists of a high-riding, dysplastic, and malrotated scapula leading to functional and cosmetic impairments. It has never been reported in siblings.
CASE PRESENTATION
Two sisters, 8 and 9 years old, presented for an evaluation of atraumatic limitation in the shoulder range of motion and neck webbing with an unknown family history. Physical examination revealed a small high-riding scapula, webbed neck, and painless limitation in shoulder abduction (<70°) and flexion (<80°). The 9-year-old sibling had a bilateral shoulder involvement, and the younger had unilateral. Imaging revealed bony and fibrous omovertebral connections between the dysplastic scapulas and cervical spine along with Klippel-Feil deformities. Both sisters underwent scapula repositioning via a modified Woodward procedure. The omovertebral connection was resected followed by scapula derotation and inferior migration. Both had a dramatic improvement in cosmesis and near-complete restoration of shoulder function at follow-up.
CONCLUSIONS
Although uncommon, Sprengel deformity results in notable derangement of shoulder function. If untreated, children experience difficulty with most overhead activities and often have cosmetic reports. Although no previous genetic link has been identified, its presence in biological sisters suggests that more research is needed.
Topics: Cervical Vertebrae; Child; Congenital Abnormalities; Female; Humans; Scapula; Shoulder Joint; Siblings
PubMed: 32377613
DOI: 10.5435/JAAOSGlobal-D-19-00120