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DRCOG MCQs for Circuit A Questions
Published in Una F. Coales, DRCOG: Practice MCQs and OSCEs: How to Pass First Time three Complete MCQ Practice Exams (180 MCQs) Three Complete OSCE Practice Papers (60 Questions) Detailed Answers and Tips, 2020
Turner's syndrome is associated with: Oestrogen sensitivity.Co-arctation of the aorta.Webbed neck.Short stature.Increase in follicle-stimulating hormone.
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Multiple pterygium syndrome X-linked is generally prenatally lethal and can be differentiated because of the different inheritance pattern. Multiple pterygium syndrome autosomal dominant: viable form, patients can show short stature, mental retardation and vertebral anomalies. Bartsocas Papas syndrome is also known as popliteal pterygium syndrome: this is a lethal disease which shows a very severe popliteal pterygium, facial cleft , ankyloblepharon, micrognathia, hypoplastic digits and absent thumbs. Noonan syndrome: relatively common disorder characterised by short stature, typical facial features and congenital heart defects. Webbed neck and chest deformity are common, but there are usually no other webbed joints. Fetal akinesia deformation sequence: combination of anomalies caused by poor fetal movements, and particularly multiple joint contractures, facial anomalies, pulmonary hypoplasia, polyhydramnios.
Low bone mineral density and renal malformation in Mexican patients with Turner syndrome are associated with single nucleotide variants in vitamin D-metabolism genes
Published in Gynecological Endocrinology, 2019
Rehotbevely Barrientos-Rios, Sara Frias, José A. Velázquez-Aragón, Camilo E. Villaroel, Silvia Sánchez, Bertha Molina, Angélica Martínez, Alessandra Carnevale, Benilde García-de-Teresa, Edmundo Bonilla, Christian David Alvarado-Araiza, Alejandro Valderrama-Hernández, Paul Tadeo Ríos-Gallardo, Raúl Calzada-León, Nelly Altamirano-Bustamante, Leda Torres
It has long been recognized that there is no clear karyotype-phenotype correlation that thoroughly resolves the TS-phenotype. However, certain clear correlations have been noticed like the presence of a Y chromosome that prevents the typical TS short stature [11], or that the phenotype is less severe when the patients present mosaicism with a 46,XX cell line [29]. In this cohort of TS-patients, both the presented clinical manifestations and their different possible chromosomal constitution have a similar distribution than what has been reported in other populations [4,5,11,29]. Although congenital heart disease, webbed neck and broad chest were found at a higher frequency in the 45,X group, no statistically significant association between those clinical features and a 45,X karyotype was demonstrated (Table 1). A single patient had a karyotype with a Y chromosome and she showed normal stature.
Features of Turner syndrome in patients managed at the adult endocrinology clinic, Steve Biko Academic Hospital
Published in Journal of Endocrinology, Metabolism and Diabetes of South Africa, 2023
Clinical examination included recording basic biometrics like height and weight and documenting typical features of Turner syndrome. A webbed neck is defined as an additional skin fold going from the neck to the shoulder, but this has no objective measurement for diagnosis. It was identified based on the clinical judgement of two independent clinicians. Systemic examination of all patients was done to identify other systemic conditions associated with Turner syndrome. Patients who did not have DEXA scans, echocardiography, renal ultrasound and audiometry in the last three years were referred for the relevant testing according to standard screening protocols in Turner syndrome patients. HbA1C, AST, ALT and thyroid function tests were done as part of routine care.
Turner syndrome and Cushing disease – the coexistence with overlapping complications: case report and literature review
Published in Gynecological Endocrinology, 2019
Katarzyna Gniewek, Anna Brona, Diana Jędrzejuk, Katarzyna Kolačkov, Marek Bolanowski
We introduce a 44-year-old woman with typical symptoms of TS with final height 148 cm and phenotypic characteristics: downward slanting palpebral fissures, epicanthal folds, low-set ears, micrognathia, low posterior hairline, short and webbed neck, and multiple pigmented nevi. Our patient was diagnosed with TS at the age of 16 due to short stature, primary amenorrhea, and learning disabilities.