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GMS Interdisciplinary Plastic and... 2017The webbed neck deformity or pterygium colli is the number one symptom of the Turner syndrome that leads the patient to consult a doctor. Various but rare surgical...
The webbed neck deformity or pterygium colli is the number one symptom of the Turner syndrome that leads the patient to consult a doctor. Various but rare surgical approaches have been described to correct this deformity. We reviewed our experience with the surgical correction of the pterygium colli. Through five clinical cases, we describe the surgical technique with a lateral approach which provides a better control of the operative site, allows for the excision of the underlying trapezial fascial web, thus preventing recurrence seen in the posterior approach, and restores a normal hairline. No postoperative wound infection occurred. No recurrence was observed through 24 months. Three patients developed hypertrophic scars. The lateral approach associated with an advanced flap and a Z-plasty is an effective technique for correction of this neck deformity. The presence of a multidisciplinary team, formed with maxillofacial and plastic surgeons, endocrinologists and psychologists, is required to treat these patients allowing reintegration into society and family.
PubMed: 28275532
DOI: 10.3205/iprs000106 -
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 -
Saudi Journal of Anaesthesia 2016Multiple pterygium syndrome (MPS) is a very rare autosomal recessive disorder characterized by flexion of joint and digit contractures, skin webbing, cleft palate,...
Multiple pterygium syndrome (MPS) is a very rare autosomal recessive disorder characterized by flexion of joint and digit contractures, skin webbing, cleft palate, deformity of the spine, and cervical spine fusion. Difficult airway is associated mainly due to micrognathia, retrognathia, webbing of the neck, and limitation of the mouth opening and neck extension. We are reporting a case of a 5-year-old female diagnosed with MPS and exhibiting a bilateral club foot and congenital vertical talus. The patient was posted for manipulation and above the knee casting under general anesthesia.
PubMed: 27375397
DOI: 10.4103/1658-354X.174901 -
Case Reports in Medicine 2014For the Noonan syndrome patient, the most concerning physical defect is often congenital webbing of the neck or pterygium colli. We present a patient with pterygium...
For the Noonan syndrome patient, the most concerning physical defect is often congenital webbing of the neck or pterygium colli. We present a patient with pterygium colli and a low and laterally displaced nuchal hairline. Since its description, various surgical approaches have been implemented to correct the deformity. Previously reported posterior and lateral approaches have notable disadvantages with regard to hairline displacement and recurrence. In order to address these disadvantages, a new surgical technique was used on this patient. We have termed this technique an M to T rearrangement. Using a lateral approach, the M and T incisions are made and the trapezial fascial web is directly visualized and able to be completely excised. This prevents the recurrence seen with the use of posterior techniques. Inferolateral displacement of hair-bearing skin can be removed with resection of the superior intervening triangle and improves the appearance of the low nuchal hairline. The excision of excess skin along with the zig-zag closure also prevents postoperative scar contraction and recurrence. An important effect of this technique is the prevention of anterior displacement of hair bearing skin. M to T rearrangement is an effective technique for the correction of webbed neck deformities seen in Noonan and Turner syndromes.
PubMed: 24523736
DOI: 10.1155/2014/682806 -
Clinical Case Reports Jul 2023Lethal multiple pterygium syndrome is a very rare genetic disorder. The manifestations of this condition include growth deficiency of the fetus, craniofacial anomalies,...
Lethal multiple pterygium syndrome is a very rare genetic disorder. The manifestations of this condition include growth deficiency of the fetus, craniofacial anomalies, joint contracture, and skin webbing (pterygia). This disorder is fatal before birth or shortly after birth. We reported a case of lethal multiple pterygium syndrome with multiple anomalies including pterygia involving the axilla, bilateral antecubital fossa, and groin. Arthrogryposis involving multiple lower and upper extremities joints. Cleft palate, microstomia and limitation of mouth opening, webbed neck, asymmetric small and narrow chest, ambiguous genitalia, depressed and wide nasal bridge, antemongoloid slant, low-set, malformed, and posteriorly rotated ears, pterygia, syndactyly and camptodactyly of hands and rocket bottom feet. LMPS is a congenital genetic disease with multiple anomalies that is fatal in the second and third trimesters of pregnancy or shortly after birth. With genetic testing and counseling, it can be prevented from recurring in subsequent pregnancies.
PubMed: 37448946
DOI: 10.1002/ccr3.7678 -
Cureus Oct 2023Turner syndrome (TS) is a genetic anomaly that is characterized by the absence of an X chromosome, either completely or partially. Primary amenorrhea, short stature,...
Turner syndrome (TS) is a genetic anomaly that is characterized by the absence of an X chromosome, either completely or partially. Primary amenorrhea, short stature, webbed neck, cubitus valgus, and a little intellectual disability are some of the characteristics. Infertility is also one of the most common clinical symptoms of TS-affected females. With the advent of assisted reproductive technology (ART), chances of childbearing possibilities for TS females have risen. Infertility issues in females with TS are challenging, but they can be managed with proper counseling and ART by artificial implantation, oocyte donation, and others. This case report aims to present the case of a 27-year-old female who had not attained her menarche and wanted to conceive. She was diagnosed with TS on the basis of clinical and laboratory investigations. The patient was, thereafter, treated for infertility by oocyte donation and conceived successfully.
PubMed: 38022282
DOI: 10.7759/cureus.47172 -
Expert Review of Endocrinology &... 2008This article reviews current patterns of ascertainment, clinical characteristics and quality of care for girls with Turner syndrome, based on a cohort of 100 girls (aged...
This article reviews current patterns of ascertainment, clinical characteristics and quality of care for girls with Turner syndrome, based on a cohort of 100 girls (aged 7-17 years) prospectively evaluated at the National Institute of Child Health since 2001. Approximately 25% were diagnosed prenatally or at birth owing to webbed neck and other features typical of fetal lymphedema, few were diagnosed during early childhood, with the majority undiagnosed until age 9 years or older. Major clinical features included thyroid autoimmunity (51%), congenital cardiovascular anomalies (44%), liver abnormalities (36%), hypertension (34%), hearing loss (30%) and renal anomalies (18%). Of the group, 75% were being or had been treated with growth hormone. These girls were an average of 5 cm taller and significantly less obese than the untreated group. We discuss new guidelines for the initiation of puberty and urgent research needed to promote the health and longevity of girls suffering from Turner syndrome as they become adults.
PubMed: 19789718
DOI: 10.1586/17446651.3.6.771 -
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 -
Biomedical and Environmental Sciences :... Sep 2017This study investigated the role of long non-coding RNAs (lncRNAs) in the development of the palatal tissues. Cleft palates in mice were induced by...
This study investigated the role of long non-coding RNAs (lncRNAs) in the development of the palatal tissues. Cleft palates in mice were induced by 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD). Expression levels of long non-coding RNA H19 (lncRNA H19) and insulin-like growth factor 2 (IGF2) gene were measured by quantitative real-time polymerase chain reaction (qRT-PCR). The rate of occurrence of cleft palate was found to be 100% by TCDD exposure, and TCDD could cause short upper limb, cerebral fissure, webbed neck, and short neck. The expression levels of lncRNA H19 and IGF2 gene specifically showed embryo age-related differences on E13, E14, and E15 in the palatal tissues. The expression levels of lncRNA H19 and IGF2 gene showed an inverse relationship on E13, E14, and E15. These findings demonstrated that lncRNA H19 and IGF2 can mediate the development of mouse cleft palate.
Topics: Animals; Cleft Palate; Female; Gene Expression Regulation; Gene Expression Regulation, Developmental; Male; Mice; Mice, Inbred C57BL; Palate; Polychlorinated Dibenzodioxins; RNA, Long Noncoding; Real-Time Polymerase Chain Reaction
PubMed: 29081343
DOI: 10.3967/bes2017.090 -
Acta Medica Iranica Sep 2013Simple snoring is a social problem, one that can gravely affect the patient's married life. About 40% of men and 20% of women are affected, and it often goes along with... (Clinical Trial)
Clinical Trial
Simple snoring is a social problem, one that can gravely affect the patient's married life. About 40% of men and 20% of women are affected, and it often goes along with sleep-disordered breathing. Up to now various surgical techniques have been defined such as UPPP(uvulopalatopharyngo plasty), and laser-assisted uvulopalatoplasty (LAUP). Among the surgical methods, RAUP (radiofrequency assisted uvulopalatoplasty) is a minimal invasive, an easy performed, and time and cost effective one. We designed a before and after a clinical trial. The inclusion criteria were age >18 years, complaint of nocturnal snoring, have a bed partner to assess snoring, AHI<5 events per hour in the polysomnography, malampathy score (soft palate position) I or II, an elongated uvula, grade I and II of pharyngeal webbing and patient consent was needed too. A 10-score visual analog scale (VAS) of snoring severity was completed by bed partner. All of 35 included patients underwent RAUP under local anesthesia by the same expert surgeon. After 3 months, 6 months and one year, subjective snoring decreased significantly compared to the preoperative period. The decline in VAS in 6 month compared to 3 months postoperatively, was not significant (P=0.223). When comparing 1 year and 6 months after treatment, the VAS scores were increased, but they were not significant (From 1.8 to 1.9, P=0.78). Three months after treatment minor complications consisted of: nasal regurgitation in 2 patients (5.7%), nasal speech in 2 (5.7%) and exacerbation of snoring in 2 (5.7%) patients.There was no major complication including mucosal laceration, uvular damage and obstruction of the airway. The rate of snoring decrease did not correlate with age, sex and BMI. Based on this study and literature review, it seems RAUP is a safe surgery, which may decrease symptoms of snoring, at least, in short-term follow-up.
Topics: Adult; Female; Humans; Male; Palate; Polysomnography; Radio Waves; Snoring; Uvula
PubMed: 24026989
DOI: No ID Found