keyword
MENU ▼
Read by QxMD icon Read
search

marfanoid habitus

keyword
https://www.readbyqxmd.com/read/29457255/pregnancy-on-vandetanib-in-metastatic-medullary-thyroid-carcinoma-associated-with-multiple-endocrine-neoplasia-type-2b
#1
Nicholas Thomas, John Glod, Claudia Derse-Anthony, Emma L Baple, Nigel Obsborne, Rachel Sturley, Bijay Vaidya, Kate Newbold, Antonia Brooke
Vandetanib is a tyrosine kinase inhibitor (TKI) used in the treatment of medullary thyroid carcinoma occurring in >95% of patients with multiple endocrine neoplasia type 2b (MEN 2b). Pregnancy in women with MEN 2b on vandetanib is previously unreported and has multiple potential implications for both the mother and developing fetus [1]. We describe the case of a 22 year old woman with a background of MEN 2b who was first diagnosed aged 6 presenting with marfanoid habitus, and oral mucosal neuromas. This article is protected by copyright...
February 19, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29312774/marfan-syndrome-with-pneumothorax-case-report-and-review-of-literatures
#2
Weiming Hao, Yong Fang, Hao Lai, Yaxing Shen, Hao Wang, Miao Lin, Lijie Tan
Marfan syndrome is a multisystem connective tissue disorder of autosomal dominant inheritance, which typically involves manifestations of the cardiovascular, skeletal, and ocular systems. Pulmonary involvement occurs less frequently. We report a case of a 28-year-old woman suffering from hours of sudden onset, progressive shortness of breath and right-sided chest pain. On physical examination, she presented decreased breath sound on the right side of chest, together with severe scoliosis and marfanoid habitus...
December 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29230158/significant-improvement-of-clinical-symptoms-bone-lesions-and-bone-turnover-after-long-term-zoledronic-acid-treatment-in-patients-with-a-severe-form-of-camurati-engelmann-disease
#3
Giampiero I Baroncelli, Elena Ferretti, Cecilia M Pini, Benedetta Toschi, Rita Consolini, Silvano Bertelloni
Camurati-Engelmann disease (CED) is an ultrarare autosomal dominant bone dysplasia. Cortical thickening of the diaphyses of the long bones with narrowing of the medullary cavity are associated with bone pain, waddling gait, muscular weakness, easy fatigability, and a marfanoid body habitus. There is no specific treatment for CED. Nonsteroidal anti-inflammatory drugs or glucocorticoids are ineffective in improving bone lesions. A family with a mild to severe form of CED is described. Two patients received long-term bisphosphonate treatment: the 19-year-old female proband was treated with zoledronic acid for 2...
November 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29182461/diagnosis-of-multiple-endocrine-neoplasia-type-2b-and-management-of-its-ocular-features
#4
Elke O Kreps, Isabelle Van Herzeele, Bert L Callewaert
BACKGROUND: To describe ocular and vascular findings in a patient with multiple endocrine neoplasia type 2B. MATERIALS AND METHODS: Case report of a 31-year-old male who was referred for ocular assessment following diagnosis of a carotid artery dissection and multiple vascular anomalies. RESULTS: Clinical examination revealed a marfanoid habitus, myelinated corneal nerve fibers, neuromas in the perilimbal area, conjunctival hyperemia with peripheral corneal neovascularization, and posterior blepharitis...
November 28, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28832386/marfanoid-habitus-is-a-nonspecific-feature-of-perrault-syndrome
#5
Maria Zerkaoui, Leigh A M Demain, Imane Cherkaoui Jaouad, Ilham Ratbi, Karima Amjoud, Jill E Urquhart, James O'Sullivan, William G Newman, Abdelaziz Sefiani
The objective of this study was to report the clinical and biological characteristics of two Perrault syndrome cases in a Moroccan family with homozygous variant c.1565C>A in the LARS2 gene and to establish genotype-phenotype correlation of patients with the same mutation by review of the literature. Whole-exome sequencing was performed. Data analysis was carried out and confirmed by Sanger sequencing and segregation. The affected siblings were diagnosed as having Perrault syndrome with sensorineural hearing loss at low frequencies; the female proband had primary amenorrhea and ovarian dysgenesis...
August 21, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28687527/the-first-patient-with-sporadic-x-linked-intellectual-disability-with-de-novo-zdhhc9-mutation-identified-by-targeted-next-generation-sequencing
#6
Ji Yoon Han, In Goo Lee, Soyoung Shin, Myungshin Kim, Ja Hyun Jang, Joonhong Park
X-linked intellectual disability (XLID) is a genetically heterogeneous disorder involving more than 100 genes known to date. Here, we describe a Korean male infant with global developmental delay. He had neither facial dysmorphism nor skeletal abnormalities. Bayley scale of infant and toddler development third edition (Bayley-III) measured at age of 2 years revealed marked global developmental delays without Marfanoid habitus, structural brain abnormalities, or epilepsy. The patient's cognitive, motor, and language developmental ages were 8-9 months, 12 months, and 9 months, respectively...
October 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27275480/isolated-polycystic-liver-disease-and-aneurism-a-case-report
#7
Nikolaos Fassiadis, Sofia Lampaki, Paul Zarogoulidis, Drosos Tsavlis, Theodora Tsiouda, Ioanna Kougioumtzi, Nikolaos Machairiotis, Pavlos Pavlidis, Charalampos Charalampidis, Kosmas Tsakiridis
Isolated polycystic liver disease (PCLD) has not been associated with aneurysms and concomitant PLD has not been reported previously in association with bilateral popliteal aneurysms. A case of a middle-aged man with PLD, marfanoid habitus and bilateral popliteal aneurysms is presented.
May 2016: Annals of Translational Medicine
https://www.readbyqxmd.com/read/27096468/a-girl-with-marfanoid-habitus-and-distinctive-orolabial-lesions
#8
Nicole Knöpfel, Ana Martín-Santiago, Elsa Puerto-Carranza
No abstract text is available yet for this article.
August 1, 2016: JAMA Dermatology
https://www.readbyqxmd.com/read/26871822/transient-monoplegia-as-a-result-of-unilateral-femoral-artery-ischemia-detected-by-multimodal-intraoperative-neuromonitoring-in-posterior-scoliosis-surgery-a-case-report
#9
Rafal Pankowski, Marek Roclawski, Krzysztof Dziegiel, Marcin Ceynowa, Marcin Mikulicz, Tomasz Mazurek, Wojciech Kloc
This is to report a case of 16-year-old girl with transient right lower limb monoplegia as a result of femoral artery ischemia detected by multimodal intraoperative spinal cord neuromonitoring (MISNM) during posterior correction surgery of adolescent idiopathic scoliosis.A patient with a marfanoid body habitus and LENKE IA type scoliosis with the right thoracic curve of 48° of Cobb angle was admitted for posterior spinal fusion from Th6 to L2. After selective pedicle screws instrumentation and corrective maneuvers motor evoked potentials (MEP) began to decrease with no concomitant changes in somato-sensory evoked potentials recordings...
February 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/26858800/the-diversity-of-the-clinical-phenotypes-in-patients-with-fibrodysplasia-ossificans-progressiva
#10
Ali Al Kaissi, Vladimir Kenis, Maher Ben Ghachem, Jochen Hofstaetter, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
BACKGROUND: The clinical presentation, phenotypic characterization and natural history of fibrodysplasia ossificans progressiva (FOP) are diverse and the natural history of the disease is, to a certain extent, different from one patient to another. METHODS: In a series of 11 patients (eight girls and three boys, aged 0 - 16 years), variable clinical presentations were the landmarks of these patients. At birth, all of our patients manifested short great toes in a valgus position...
March 2016: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/26708403/sos1-frameshift-mutations-cause-pure-mucosal-neuroma-syndrome-a-clinical-phenotype-distinct-from-multiple-endocrine-neoplasia-type-2b
#11
Martina Owens, Emma Kivuva, Anthony Quinn, Paul Brennan, Richard Caswell, Hana Lango Allen, Bijay Vaidya, Sian Ellard
BACKGROUND: Mucosal neuromas, thickened corneal nerves and marfanoid body habitus are characteristic phenotypic features of multiple endocrine neoplasia type 2B (MEN2B) and often provide an early clue to the diagnosis of the syndrome. Rarely, patients present with typical physical features of MEN2B but without associated endocrinopathies (medullary thyroid carcinoma or pheochromocytoma) or a RET gene mutation; this clinical presentation is thought to represent a distinct condition termed 'pure mucosal neuroma syndrome'...
May 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/26438242/genotype-phenotype-correlation-in-indian-patients-with-men2-associated-pheochromocytoma-and-comparison-of-clinico-pathological-attributes-with-apparently-sporadic-adrenal-pheochromocytoma
#12
COMPARATIVE STUDY
Sendhil Rajan, Ghazala Zaidi, Gaurav Agarwal, Anjali Mishra, Amit Agarwal, Saroj Kanta Mishra, Eesh Bhatia
INTRODUCTION: Pheochromocytoma (PCC) manifests in up to 50% of MEN2 patients. We correlated the clinico-pathological features of MEN2-associated PCC (MEN-PCC) with RET mutations and compared them with non-MEN adrenal-PCCs. METHODS: In this retrospective single institution study on a large PCC database (n = 208, 1997-2014) 24 MEN-PCC patients with known RET mutations were reviewed. Excluding 7 with incomplete data, the study cohort of 17 MEN-PCC patients from 11 kindreds (M:F::7:10) was identified...
March 2016: World Journal of Surgery
https://www.readbyqxmd.com/read/26365863/prevalence-of-generalised-joint-hypermobility-in-school-aged-children-from-east-central-european-region
#13
A Gocentas, N Jascaniniene, M Pasek, W Przybylski, E Matulyte, D Mieliauskaite, K Kwilecki, J Jaszczanin
BACKGROUND: There is no literature regarding joint mobility in children of the Central and Eastern Europe. Studies describing clinical characteristics and functional outcomes are still needed. The aim of this study was to assess the prevalence of generalised joint hypermobility (GJH) in the group of school-aged children from Vilnius, the capital city of Lithuania, in relation to different cut-off values of the Beighton score (BS), and to identify possible patients with joint hypermobility syndrome...
2016: Folia Morphologica (Warsz)
https://www.readbyqxmd.com/read/26358559/tentative-clinical-diagnosis-of-lujan-fryns-syndrome-a-conglomeration-of-different-genetic-entities
#14
Karl Hackmann, Andreas Rump, Stefan A Haas, Johannes R Lemke, Jean-Pierre Fryns, Andreas Tzschach, Dagmar Wieczorek, Beate Albrecht, Alma Kuechler, Tim Ripperger, Albrecht Kobelt, Konrad Oexle, Sigrid Tinschert, Evelin Schrock, Vera M Kalscheuer, Nataliya Di Donato
The clinical diagnosis of Lujan-Fryns syndrome (LFS) comprises X-linked intellectual disability (XLID) with marfanoid habitus, distinct combination of minor facial anomalies and nasal speech. However the definition of syndrome was significantly broadened since the original report and implies ID with marfanoid habitus. Mutations of three genes (MED12, UPF3B, and ZDHHC9) have been reported in "broadly defined" LFS. We examined these genes in 28 individuals with a tentative clinical diagnosis of LFS but we did not identify any causative mutation...
January 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26287851/images-in-clinical-medicine-multiple-mucosal-neuroma
#15
Marie Rouzaud, Franck Boralevi
A 9-year-old boy presented with a 6-year history of asymptomatic papules on his tongue, along with chronic constipation and abdominal discomfort since infancy. On physical examination, he was noted to have a marfanoid habitus, coarse facies, tooth malposition, and multiple soft, yellow papules..
August 20, 2015: New England Journal of Medicine
https://www.readbyqxmd.com/read/26259426/hepatopulmonary-syndrome-severe-cyanosis-and-marfanoid-habitus
#16
Vijaysinh Pati, George Cherian
We report the case of a 17-year-old male with Marfanoid habitus who presented with deep cyanosis, haematemesis, dyspnoea and platypnoea. He had oesophageal varices, indicating portal hypertension, with mildly deranged liver function. His arterial blood gas (ABG) revealed hypoxia and orthodeoxia. Contrast-enhanced echocardiography with agitated saline and a 99m Technetium macro-aggregated albumin perfusion lung scan confirmed intrapulmonary shunting. Pulmonary angiogram showed multiple, small diffuse pulmonary arteriovenous fistulae scattered all over the lungs and predominantly in the bases of the lungs...
December 2014: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/26200704/novel-mutations-of-nfix-gene-causing-marshall-smith-syndrome-or-sotos-like-syndrome-one-gene-two-phenotypes
#17
Francisco Martinez, Purificación Marín-Reina, Amparo Sanchis-Calvo, Antonio Perez-Aytés, Silvestre Oltra, Mónica Roselló, Sonia Mayo, Sandra Monfort, Jorge Pantoja, Carmen Orellana
BACKGROUND: Only 15 point mutations in NFIX gene have been reported so far, nine of them cause the Marshall-Smith syndrome (MSS) and the remaining mutations lead to an overgrowth disorder with a less severe phenotype, defined as Sotos-like. METHODS: The clinical findings in three patients with MSS and two patients with a Sotos-like phenotype are presented. Analysis of the NFIX gene was performed both by conventional or next-generation sequencing. RESULTS: Five de novo mutations in NFIX gene were identified, four of them not previously reported...
November 2015: Pediatric Research
https://www.readbyqxmd.com/read/26097012/total-body-irradiation-in-a-patient-with-fragile-x-syndrome-for-acute-lymphoblastic-leukemia-in-preparation-for-stem-cell-transplantation-a-case-report-and-literature-review
#18
D T Collins, E M Mannina, M Mendonca
Fragile X syndrome (FXS) is a congenital disorder caused by expansion of CGG trinucleotide repeat at the 5' end of the fragile X mental retardation gene 1 (FMR1) on the X chromosome that leads to chromosomal instability and diminished serum levels of fragile X mental retardation protein (FMRP). Afflicted individuals often have elongated features, marfanoid habitus, macroorchidism and intellectual impairment. Evolving literature suggests the condition may actually protect from malignancy while chromosomal instability would presumably elevate the risk...
October 2015: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/25986263/congenital-contractural-arachnodactyly-without-fbn1-or-fbn2-gene-mutations-complicated-by-dilated-cardiomyopathy
#19
Hiroki Yagi, Masaru Hatano, Norifumi Takeda, Saori Harada, Yukari Suzuki, Yuki Taniguchi, Yukako Shintani, Hiroyuki Morita, Norio Kanamori, Takeshi Aoyama, Masafumi Watanabe, Ichiro Manabe, Hiroshi Akazawa, Koichiro Kinugawa, Issei Komuro
Congenital contractural arachnodactyly (CCA) is a rare connective tissue disorder characterized by marfanoid habitus with camptodactyly. However, cardiac features have rarely been documented in adults. We herein report a sporadic case of CCA in a 20-year-old woman who developed decompensated dilated cardiomyopathy. The patient did not have any mutations in the FBN1 or FBN2 genes, which are most commonly associated with Marfan syndrome and CCA, respectively. Although whether these two diseases are caused by a mutation(s) in the same gene or two different genes remains unknown, this case provides new clinical insight into the cardiovascular management of CCA...
2015: Internal Medicine
https://www.readbyqxmd.com/read/25975422/congenital-contractural-arachnodactyly-complicated-with-aortic-dilatation-and-dissection-case-report-and-review-of-literature
#20
Norifumi Takeda, Hiroyuki Morita, Daishi Fujita, Ryo Inuzuka, Yuki Taniguchi, Yasushi Imai, Yasunobu Hirata, Issei Komuro
Congenital contractural arachnodactyly (CCA) is a connective tissue disease caused by mutations of the FBN2, which encodes fibrillin-2. CCA patients have a marfanoid habitus; however, aortic dilatation and/or dissection as observed in Marfan syndrome have been rarely documented. Here, we report on a Japanese familial case of CCA resulting from a FBN2 splicing mutation (IVS32+5g→a), which leads to exon 32 being skipped, and the patients developed aortic dilatation and type A dissection. Although CCA patients have been believed to have favorable prognoses, repetitive aortic imaging studies must be performed in some patients to detect possible aortic disease early, and genetic testing of FBN2 might be useful to identify such high-risk patients...
October 2015: American Journal of Medical Genetics. Part A
keyword
keyword
119581
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"