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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 -
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 -
Urologia Internationalis 2022Mixed gonadal dysgenesis is the most common chromosomal abnormality with ambiguous genitalia, defined as a 45,X/46,XY mosaicism. It can present with a normal male...
Mixed gonadal dysgenesis is the most common chromosomal abnormality with ambiguous genitalia, defined as a 45,X/46,XY mosaicism. It can present with a normal male phenotype, ambiguous genitalia, or features of Turner syndrome. A 14-year-old patient was referred to the genetics clinic due to hypospadia, cryptorchidism, and aortic coarctation. During the physical examination, short stature, webbed neck, and Blashko lines on his back were noted. He had a previous karyotype reported as normal. However, due to an inadequate evolution and a low resolution on the previous test, a higher resolution karyotype was performed, identifying a mosaicism 45,X/46,XY. A multidisciplinary board examined the case, and follow-up with tumor markers was carried out to evaluate the presence of gonadoblastoma, one of the main complications in these patients. Treatment should be transdisciplinary and focused on the particular characteristics of each case. Other treatment alternatives include corrective surgery and hormonal therapy.
Topics: Disorders of Sex Development; Female; Gonadal Dysgenesis, Mixed; Humans; Male; Mosaicism; Phenotype; Turner Syndrome
PubMed: 34929697
DOI: 10.1159/000519368 -
Traffic Injury Prevention 2021Occupant kinematics and biomechanical responses are assessed with and without pretensioning of normally seated and out-of-position front-seat occupants in rear sled...
OBJECTIVE
Occupant kinematics and biomechanical responses are assessed with and without pretensioning of normally seated and out-of-position front-seat occupants in rear sled tests. The results are compared to recent studies.
METHODS
Three series of rear sled tests were conducted at 24 and 40 km/h with a 2001 Ford Taurus. Series I consisted of two sled tests with a lap-shoulder belted 50 Hybrid III in the driver seat. Series II included four sled tests with a lap-shoulder belted 50 Hybrid III in both front seats. Two soft foam blocks were added, one was placed on the chest centerline under the shoulder belt and one on the pelvis under the lap belt providing additional webbing. Series III consisted of 8 runs and 16 ATD tests to assess the effect of pretensioning with out-of-positioned (OOP) occupants. The biomechanical responses were normalized with Injury Assessment Reference Values (IARV) for head, neck and chest.
RESULTS
The ATD kinematics and biomechanical responses were similar in the yielding phase when the occupant was normally seated with and without pretensioning. The rebound displacement was greater with pretensioning in the 40 km/h tests due to the shoulder belt slipping off the shoulder. The hip displacement was similar, irrespective of pretensioning. All biomechanical responses were below IARVs. The highest response was for lower neck extension. The normalized response was at about 32% for the 24 km/h tests, irrespective of pretensioning. It was up to 59% in the 40 km/h tests with pretensioning. With the OOP occupants, there were no differences in the kinematics and biomechanical response with pretensioning.
CONCLUSIONS
Testing of the effect of retractor pretensioning with out-of-position occupants and additional belt webbing in moderate to high-speed rear sled tests shows no effect on occupant kinematics and biomechanical responses. The displacement of the hips in a rear impact depends on the compliance of the seatback and amount of pocketing, the stiffness of the seat frame limiting rearward rotation, and the dynamic friction between the occupant and the seatback.
Topics: Acceleration; Accidents, Traffic; Biomechanical Phenomena; Head; Humans; Manikins; Neck; Thorax
PubMed: 34355979
DOI: 10.1080/15389588.2021.1946523 -
PeerJ 2022Mesosaurs are the first secondarily aquatic amniotes and one of the most enigmatic clades of reptiles from the early Permian. They have long puzzled paleontologists with...
Mesosaurs are the first secondarily aquatic amniotes and one of the most enigmatic clades of reptiles from the early Permian. They have long puzzled paleontologists with their unique morphologies: possessing an elongated skull with thin needle-like teeth, a long neck, large webbed hindlimbs, banana-shaped pachyosteosclerotic ribs, and a long tail. Here, we look at a large dataset of morphometric measurements from 270 mesosaur specimens in collections around the world. These measurements characterize skull, tooth, and limb proportions and their variation with size. This data presents evidence of surprising ontogenetic changes in these animals as well as new insights into their taxonomy. Our results support the recent hypothesis that is the only valid species within Mesosauridae and suggest that "" and "" represent immature stages or incomplete specimens of by showing that all three species occupy an incomplete portion of the overall size range of mesosaurs. Under the single-species hypothesis, we highlight a number of ontogenetic trends: (1) a reduction in skull length accompanied by an elongation of the snout within the skull, (2) an elongation of teeth, (3) a reduction in hind limb length, and (4) a reduction in manus length. Concurrent with these changes, we hypothesize that mesosaurs went through a progressive ecological shift during their growth, with juveniles being more common in shallow water deposits, whereas large adults are more frequent in pelagic sediments. These parallel changes suggest that mesosaurs underwent a diet and lifestyle transition during ontogeny, from an active predatory lifestyle as juveniles to a more filter-feeding diet as adults. We propose that this change in lifestyle and environments may have been driven by the pursuit of different food sources, but a better understanding of the Irati Sea fauna will be necessary to obtain a more definitive answer to the question of young mesosaur diet.
Topics: Animals; Skull; Reptiles; Tooth; Head; Diet
PubMed: 36132215
DOI: 10.7717/peerj.13866