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Cureus May 2023Webbed neck deformity is a congenital anomaly that exists in several syndromes. Various techniques for surgically correcting the webbed neck deformity have been...
Webbed neck deformity is a congenital anomaly that exists in several syndromes. Various techniques for surgically correcting the webbed neck deformity have been described in the literature, each comes with its own advantages and disadvantages. The aim of surgery is to achieve normal neck contour and symmetrical hairline, avoid excessive scarring over the anterior and lateral neck, and limit recurrence. In this report, we described our experience in managing a case of Turner syndrome with bilateral webbed neck deformity using the modified five-flap Z-plasty technique.
PubMed: 37346202
DOI: 10.7759/cureus.39312 -
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 -
Indian Journal of Otolaryngology and... Jun 2023Turner syndrome is the most common chromosomal anomaly in females. The typical features include short stature, amenorrhoea, short webbed neck, shielded chest and many...
Turner syndrome is the most common chromosomal anomaly in females. The typical features include short stature, amenorrhoea, short webbed neck, shielded chest and many comorbidities like osteoporosis, cardiac anomalies, diabetes and hypothyroidism. Primary hyperparathyroidism caused by parathyroid adenoma is rarely reported in patients of turner syndrome. The exact cause is not known at present. We report a case of a 21 years old patient of Turner syndrome who had symptoms of renal stones and hypercalcemia. USG neck and sestamibi scans revealed left inferior parathyroid adenoma. Surgical excision of the involved gland was done which led to normalization of S. calcium and PTH levels. Although hyperparathyroidism is extremely rare in patients of Turner syndrome, any symptoms of renal stones, pathological fractures and hypercalcemia should raise the suspicion of parathyroid adenoma. Surgical management should be planned as early as possible.
PubMed: 37274961
DOI: 10.1007/s12070-022-03322-8 -
International Medical Case Reports... 2023Lentigines are defined as multiple small pigmented macules measuring up to one centimeter and surrounded by normal-appearing skin, commonly caused by genetic factors....
Lentigines are defined as multiple small pigmented macules measuring up to one centimeter and surrounded by normal-appearing skin, commonly caused by genetic factors. LEOPARD syndrome (LS) is an autosomal dominant distinguished by the presence of several lentigines, with specific phenotypic characteristics that resembles Noonan syndrome (NS). LS is likely to be underdiagnosed or misdiagnosed because many of its symptoms are minor and the accurate diagnosis may be overlooked. Therapy for lentigines are generally aimed at tackling aesthetic disfigurement and its subsequent psychological impacts. This case report aims to highlight the efficacy of 532-nanometer (nm) Q-switched (QS) Nd:YAG laser in treating lentigines in a 21-year-old woman with LS overlap NS. The patient initially came to seek treatment of her facial lentigines. However, some mild abnormalities such as ocular hypertelorism, left eye ptosis, and webbed neck were observed. Hormonal, cardiac, and pulmonary functions were within normal limit. Histopathological results supported the diagnosis of lentigo. The patient was given sunscreen and depigmenting agents and was instructed to apply the medications routinely. The patient then underwent two sessions of 532-nm QS Nd:YAG laser with a 3 mm spot size, 1 J/cm fluence, and a 1 Hz frequency. Objective clinical improvements were observed using spectrophotometer examination, there were no side effects found, and she was satisfied with the results. Dermatologists should play an integral role in establishing the diagnosis and management of systemic syndrome, manifesting specifically as dermatological symptoms. Lentigines in LS last throughout the patient's lifespan. Nd:YAG laser therapy can be effective in treating lentigines with long-lasting results. It plays a role in improving the patient's life quality, especially where the genetic disorder itself is a debilitating condition. The limitation of this case report was the lack of a genetic test, as the suspected diagnosis was made based on clinical symptoms.
PubMed: 37193055
DOI: 10.2147/IMCRJ.S407416 -
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 -
Congenital Anomalies May 2023Congenital laryngeal webs are rare and are defined as thick epithelium-covered fibrous tissue lying between the vocal folds; the anterior glottis is the most common site...
Congenital laryngeal webs are rare and are defined as thick epithelium-covered fibrous tissue lying between the vocal folds; the anterior glottis is the most common site of involvement, with possible extension to the subglottic region. The association with chromosome 22q11.2 deletion syndrome has also been reported. Symptoms have been abnormal or absent crying and airway obstruction since birth. Management strategies range from endoscopic division using cold instruments to open surgery for severe webbing. In endoscopic surgery, the need for tubeless anesthesia and spontaneous breathing is fundamental for obtaining the best surgical outcome. Here, we describe the case of a 4-month-old female patient affected by a type II glottic web according to Cohen, who was treated by simple endoscopic division in spontaneous breathing.
Topics: Humans; Infant; Female; Vocal Cords; Endoscopy; Glottis; Plastic Surgery Procedures; Anesthesia
PubMed: 36916226
DOI: 10.1111/cga.12511 -
Human Genomics Feb 2023Mutations in NF1 gene could cause allelic disorders with clinical spectrum of Neurofibromatosis type 1 to Noonan syndrome. Here, a 7-year-old Iranian girl is described...
BACKGROUND
Mutations in NF1 gene could cause allelic disorders with clinical spectrum of Neurofibromatosis type 1 to Noonan syndrome. Here, a 7-year-old Iranian girl is described with Neurofibromatosis-Noonan syndrome due to a pathogenic variant in NF1 gene.
METHODS
Clinical evaluations were performed along with genetic testing using whole exome sequencing (WES). The variant analysis including pathogenicity prediction was also done using bioinformatics tools.
RESULTS
The chief compliant of the patient was short stature and lack of proper weight gain. Other symptoms were developmental delay, learning disability, inadequate speech skill, broad forehead, hypertelorism, and epicanthal folds, low set ears and webbed neck. A small deletion, c.4375-4377delGAA, was found in NF1 gene using WES. This variant was classified as pathogenic according to ACMG.
CONCLUSIONS
NF1 variants may show variable phenotypes among the patients; identifying such variants is helpful in therapeutic management of the disease. WES is considered as an appropriate test to diagnose Neurofibromatosis-Noonan syndrome.
Topics: Humans; Genes, Neurofibromatosis 1; Iran; Mutation; Neurofibromatoses; Neurofibromatosis 1; Noonan Syndrome; Female; Child
PubMed: 36803953
DOI: 10.1186/s40246-023-00460-0 -
European Journal of Medical Genetics Feb 2023Noonan syndrome is characterized by variable phenotypic expressivity with characteristic dysmorphic facial features, varying degrees of intellectual disability,...
Noonan syndrome is characterized by variable phenotypic expressivity with characteristic dysmorphic facial features, varying degrees of intellectual disability, developmental delay, short stature, and congenital heart defects in 50-80%. Other findings include a webbed neck, cryptorchidism, coagulation defects and eye abnormalities. Thus far, Noonan syndrome has mainly been attributed to heterozygous pathogenic variants in 10+ different genes, with the rare exception of cases due to biallelic pathogenic variants in LZTR1. Recently, homozygous loss-of-function variants in SPRED2 have been identified as a cause of a recessive Noonan syndrome-like phenotype. We present the phenotypes of two additional patients with homozygosity for a previously unreported loss-of-function variant in SPRED2, thereby adding relevant clinical information about the recently described Noonan syndrome-like SPRED2-related phenotype.
Topics: Humans; Male; Heart Defects, Congenital; Heterozygote; Homozygote; Intellectual Disability; Noonan Syndrome; Phenotype; Repressor Proteins; Transcription Factors
PubMed: 36608738
DOI: 10.1016/j.ejmg.2023.104695 -
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