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International Journal of Environmental... Oct 2019Physical manifestations of Turner syndrome include short stature, a webbed neck, and a shield chest with widely spaced nipples. An aspect of the disease which has not...
Physical manifestations of Turner syndrome include short stature, a webbed neck, and a shield chest with widely spaced nipples. An aspect of the disease which has not been sufficiently explored so far is the tactile sensitivity of Turner syndrome patients. Thus, the aim of the study was to assess the threshold of tactile sensitivity on hands and feet of women suffering from Turner syndrome. Information on the participants of the study was collected on the basis of questionnaires, as well as anthropometric measurements using a skinfold caliper. Semmes-Weinstein Aesthesiometer was used to find the tactile sensitivity threshold of hands and feet of study participants. Based on the results of the study, significant differences in tactile sensitivity between women with Turner syndrome and healthy women were found. Affected women seem be more sensitive to the touch on the feet than healthy volunteers. The results of the study showed that the tactile sensitivity of women with Turner syndrome is different from that of healthy women.
Topics: Adolescent; Adult; Child; Female; Humans; Middle Aged; Touch; Touch Perception; Turner Syndrome; Young Adult
PubMed: 31614840
DOI: 10.3390/ijerph16203870 -
Plastic and Reconstructive Surgery Jul 1980A posterior approach is proposed for correction of the webbed-neck deformity of Turner's syndrome. In this approach, a butterfly-shaped portion of redundant skin is...
A posterior approach is proposed for correction of the webbed-neck deformity of Turner's syndrome. In this approach, a butterfly-shaped portion of redundant skin is excised posteriorly and the lateral, superior and inferior flaps joined in a double Y midline suture line. This approach avoids the unnatural hairline and noticeable scars characteristic of a lateral approach. We believe that the revision required in the case reported here can be avoided by employing an X-shaped, rather than a double inverted Y-shaped, suture line.
Topics: Aortic Coarctation; Child; Child, Preschool; Dermatologic Surgical Procedures; Ear; Female; Follow-Up Studies; Hernia, Inguinal; Humans; Hypertension; Infant; Infant, Newborn; Neck; Scalp; Turner Syndrome
PubMed: 7394034
DOI: 10.1097/00006534-198007000-00025 -
American Journal of Medical Genetics.... Apr 2012We report on a child with micrognathia, a short, webbed neck, joint contractures, hypoplastic nipples, and a number of other anomalies. There are striking similarities...
We report on a child with micrognathia, a short, webbed neck, joint contractures, hypoplastic nipples, and a number of other anomalies. There are striking similarities to a patient reported by [Dinno and Weisskopf (1976); Synd Ident, 4:10-12], and we postulate that this child represents the second patient with this condition.
Topics: Abnormalities, Multiple; Child; Contracture; Facies; Female; Hearing Loss; Humans; Hypothyroidism; Karyotype; Micrognathism; Neck; Nipples
PubMed: 22383252
DOI: 10.1002/ajmg.a.35224 -
Seminars in Dermatology Jun 1995The Noonan syndrome is a rare disease characterized by dysmorphic facies, short stature, ear abnormalities, cryptorchidism, ocular abnormalities, cardiovascular...
The Noonan syndrome is a rare disease characterized by dysmorphic facies, short stature, ear abnormalities, cryptorchidism, ocular abnormalities, cardiovascular anomalies, cubitus valgus, webbed neck, and cutaneous and hair abnormalities. Some 25% to 40% of patients have dermatologic abnormalities. Diagnosis is purely clinical, and intrauterine diagnosis is very important based on the presence of cystic hygroma and evidence of myocardial abnormalities. Treatment is symptomatic. Genetic counseling is necessary.
Topics: Diagnosis, Differential; Humans; Noonan Syndrome; Skin Diseases
PubMed: 7640194
DOI: 10.1016/s1085-5629(05)80010-0 -
Taiwanese Journal of Obstetrics &... Aug 2018We report a 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features.
A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows.
OBJECTIVE
We report a 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features.
CASE REPORT
A 13-year-old girl was referred for genetic counseling of Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows. The girl also had mild intellectual disability, psychomotor developmental delay, speech disorder, high-arched palate, hypertelorism and mid-face hypoplasia. Cytogenetic analysis of the girl revealed a karyotype of 46,XX,del(18) (p11.2). The parental karyotypes were normal. Array comparative genomic hybridization analysis on the DNA extracted from the peripheral blood revealed a 13.93-Mb deletion of 18p11.32-p11.21 or arr 18p11.32p11.21 (148,993-14,081,858) × 1.0 [GRCh37 (hg19)] encompassing 52 Online Mendelian Inheritance in Man (OMIM) genes including USP14, TYMS, SMCHD1, TGIF1, LAMA1, TWSG1, GNAL and PTPN2. Polymorphic DNA marker analysis revealed a maternal origin of the deletion.
CONCLUSION
Females with Turner syndrome-like clinical features in association with intellectual disability, facial dysmorphism and psychomotor developmental delay should be suspected of having chromosome deletion syndromes.
Topics: Adolescent; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, Pair 18; Comparative Genomic Hybridization; Craniofacial Abnormalities; DNA; Female; Genetic Markers; Genotype; Humans; Intellectual Disability; Karyotype; Phenotype; Polymorphism, Genetic; Psychomotor Disorders; Turner Syndrome
PubMed: 30122583
DOI: 10.1016/j.tjog.2018.06.019 -
The Journal of Craniofacial Surgery Jun 2017Webbed neck deformity (WND) can have significant functional and psychosocial impact on the developing child. Surgical correction can be challenging depending on the...
Improving Functional and Aesthetic Outcomes in Syndromic Patients With Webbed Neck Deformity: Utilizing a Staged Endoscopic-Assisted Approach to Improve the Posterior Hairline and Decrease Scar Burden.
INTRODUCTION
Webbed neck deformity (WND) can have significant functional and psychosocial impact on the developing child. Surgical correction can be challenging depending on the extent of the deformity, and patients often also have low posterior hairlines requiring simultaneous correction. Current surgical techniques include various methods of single-stage radical excision that often result in visible scar burden and residual deformity. There is currently no general consensus of which technique provides the best outcomes.
METHODS
A modified approach to WND was designed by the senior author aimed to decrease scar burden. Endoscopic-assisted fasciectomy was performed with simultaneous posterior hairline reconstruction with local tissue rearrangement camouflaged within the hair-bearing scalp. Staged surgical correction was planned rather than correction in a single operation. A retrospective review was performed to evaluate all patients who underwent this approach over a 2-year period.
RESULTS
Two patients underwent the modified approach, a 17-year-old female with Noonan syndrome and a 2-year-old female with Turner syndrome. Both patients showed postoperative improvement in range of motion, contour of the jaw and neckline, and posterior hairline definition. Patients were found to have decreased scar burden compared with traditional techniques.
DISCUSSION
A staged, combination approach of endoscopic-assisted fasciectomy and strategic local tissue reconstruction of the posterior hairline to correct WND achieves good functional and aesthetic results and good patient satisfaction. This modification should be considered when managing WND.
Topics: Adolescent; Child, Preschool; Endoscopy; Fasciotomy; Female; Humans; Neck; Noonan Syndrome; Range of Motion, Articular; Retrospective Studies; Scalp; Skin Abnormalities; Turner Syndrome
PubMed: 28207470
DOI: 10.1097/SCS.0000000000003531 -
International Journal of Dermatology Apr 2008Dyskeratosis congenita (DC) is a rare inherited disorder that is usually seen in males, consisting of the triad of leukoplakia of the mucous membranes, nail dystrophy,...
Dyskeratosis congenita (DC) is a rare inherited disorder that is usually seen in males, consisting of the triad of leukoplakia of the mucous membranes, nail dystrophy, and skin pigmentation. We present a case of DC associated with esophageal stricture, Chiari 1 malformation, absence of inferior vena cava, webbed neck, and low posterior hair neck. A 22-year-old man attended our clinic with leukoplakia of the oral mucosa and nail dystrophy. In addition to these findings, poikilodermia on his neck and upper and lower extremities, bilateral ectropion, webbed neck, and low posterior hair neck was detected on dermatologic examination. Esophagoscopy demonstrated esophageal stricture. Cranial magnetic resonance imaging showed tonsillar herniation, and thoracoabdominal computed tomography revealed absence of inferior vena cava.
Topics: Abnormalities, Multiple; Adult; Arnold-Chiari Malformation; Cerebellum; Dyskeratosis Congenita; Esophageal Stenosis; Hair; Humans; Leukoplakia; Male; Neck; Pigmentation Disorders; Radiography; Vena Cava, Inferior
PubMed: 18377603
DOI: 10.1111/j.1365-4632.2008.03525.x -
Current Opinion in Cardiology Nov 2008Turner syndrome is a relatively common disorder of female development with cardinal features of short stature and congenital cardiovascular defects (CHD). Turner... (Review)
Review
PURPOSE OF REVIEW
Turner syndrome is a relatively common disorder of female development with cardinal features of short stature and congenital cardiovascular defects (CHD). Turner syndrome is the most common established cause of aortic dissection in young women, but has received little attention outside pediatric literature. This review focuses on emerging knowledge of the characteristics of aortic disease in Turner syndrome in comparison with Marfan-like syndromes and isolated aortic valve disease.
RECENT FINDINGS
The incidence of aortic dissection is significantly increased in individuals with Turner syndrome at all ages, highest during young adult years and in pregnancy. Pediatric patients with dissection have known congenital cardiovascular defects (CHD), but adults often have aortic valve and arch abnormalities detected only by screening cardiac magnetic resonance. Thoracic aortic dilation in Turner syndrome must be evaluated in relation to body surface area. Dilation is most prominent at the ascending aorta, similar to the pattern seen in nonsyndromic bicuspid aortic valve, is equally prevalent (20-30%) in children and adults, and does not seem to be rapidly progressive. Cardiovascular anomalies and risk for aortic dissection in Turner syndrome are strongly linked to a history of fetal lymphedema, evidenced by the presence of neck webbing and shield chest.
SUMMARY
Risk for acute aortic dissection is increased by more than 100-fold in young and middle-aged women with Turner syndrome. Monitoring frequency and treatment modalities are decided on an individual basis until more information on outcomes becomes available.
Topics: Acute Disease; Adult; Age Factors; Aortic Dissection; Aortic Aneurysm, Thoracic; Aortic Coarctation; Chromosomes, Human, X; Female; Heart Defects, Congenital; Humans; Incidence; Mitral Valve; Pregnancy; Pregnancy Complications, Cardiovascular; Risk Assessment; Turner Syndrome
PubMed: 18839441
DOI: 10.1097/hco.0b013e3283129b89 -
American Journal of Medical Genetics May 1995Trisomy 22 is commonly found among spontaneous abortions, second in frequency of occurrence only to trisomy 16. Most earlier reports of surviving trisomy 22 cases in the... (Review)
Review
Trisomy 22 is commonly found among spontaneous abortions, second in frequency of occurrence only to trisomy 16. Most earlier reports of surviving trisomy 22 cases in the literature are thought to represent the product of unbalanced 11;22 translocations or the result of undetected mosaicism, since this condition is thought to manifest early embryonic or fetal lethality. We present two strikingly similar cases of non-mosaic trisomy 22 surviving to late gestation. In this paper we emphasize the unique phenotype of this trisomy which included intrauterine growth retardation, microcephaly, broad flat nasal bridge with epicanthal folds and ocular hypertelorism, microtia, variable cleft palate, webbed neck, congenital heart defects involving anomalous great vessels, anorectal and renal anomalies, and hypoplastic distal digits with thumb anomalies. We also explore why some cases survive to late gestation. Confined placental mosaicism, a frequent finding in other lethal trisomies, has been ruled out in one of the cases. Molecular studies done to assess the parental origin of the extra chromosome in the other case showed that the non-disjunction originated during maternal meiosis II. Parental origin of the extra chromosome does not seem to play a role in late survival for trisomy 22.
Topics: Abnormalities, Multiple; Chromosomes, Human, Pair 22; Female; Humans; Infant, Newborn; Male; Phenotype; Pregnancy; Trisomy
PubMed: 7604844
DOI: 10.1002/ajmg.1320560404 -
Traffic Injury Prevention 2019Since 2005, National Association for Stock Car Auto Racing, Incorporated (NASCAR) drivers have been required to use a head and neck restraint system (HNR) that complies...
Since 2005, National Association for Stock Car Auto Racing, Incorporated (NASCAR) drivers have been required to use a head and neck restraint system (HNR) that complies with SFI Foundation, Inc. (SFI) 38.1. The primary purpose of the HNR is to control and limit injurious neck loads and head kinematics during frontal and frontal oblique impacts. The SFI 38.1 performance specification was implemented to establish a uniform test procedure and minimum standard for the evaluation of HNRs using dynamic sled testing. The purpose of this study was to evaluate the repeatability of the current SFI 38.1 test setup and explore the effects of a polyester seat belt restraint system. Eight sled tests were conducted using the SFI 38.1 sled test protocol with additional test setup constraints. Four 0° frontal tests and 4 30° right frontal (RF) oblique tests were conducted. The first 3 tests of each principal direction of force (PDOF) used nylon SFI 16.1 seat belt restraint assemblies. The fourth test of each PDOF used polyester SFI 16.6 seat belt restraint assemblies. A secondary data set (Lab B Data) was also supplied by the HNR manufacturer for further comparisons. The International Organization for Standardization (ISO) 18571 objective comparison method was used to quantify the repeatability of the anthropomorphic test device (ATD) resultant head, chest, and pelvis acceleration and upper neck axial force and flexion extension bending moment time histories across multiple tests. Two data sets generated using the SFI 38.1 test protocol exhibited large variations in mean ISO scores of ATD channels. The 8 tests conducted with additional setup constraints had significantly lower mean ISO score coefficients of variation (CVs). The Lab B tests conducted within the current specification but without the additional test setup constraints had larger mean ISO score standard deviation and CV for all comparisons. Specifically, tests with the additional setup constraints had average CVs of 3.3 and 2.9% for the 0° and 30° RF orientations, respectively. Lab B tests had average CVs of 22.9 and 24.5%, respectively. Polyester seat belt comparisons had CVs of 5.3 and 6.2% for the 0° and 30° RF orientations, respectively. With the addition of common test setup constraints, which do not violate the specification, the SFI 38.1 test protocol produced a repeatable test process for determining performance capabilities of HNRs within a single sled lab. A limited study using polyester webbing seat belt assemblies versus the nylon material called for in SFI 38.1 indicates that the material likely has less effects on ATD upper neck axial force and flexion extension bending moment time histories than the test setup freedom currently available within the specification. The additional test setup constraints are discussed and were shown to improve ATD response repeatability for a given HNR.
Topics: Accidents, Traffic; Biomechanical Phenomena; Head; Humans; Manikins; Neck; Reproducibility of Results; Restraint, Physical; Seat Belts; Sports
PubMed: 31329480
DOI: 10.1080/15389588.2019.1633467