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https://www.readbyqxmd.com/read/28544736/molybdenum-cofactor-deficiency-identification-of-a-patient-with-homozygote-mutation-in-the-mocs3-gene
#1
Jan G M Huijmans, Rachel Schot, Johannis B C de Klerk, Monique Williams, René F M de Coo, Marinus Duran, Frans W Verheijen, Marjon van Slegtenhorst, Grazia M S Mancini
We describe the clinical presentation and 17 years follow up of a boy, born to consanguineous parents and presenting with intellectual disability (ID), autism, "marfanoid" dysmorphic features, and moderate abnormalities of sulfite metabolism compatible with molybdenum cofactor deficiency, but normal sulfite oxidase activity in cultured skin fibroblasts. Genomic exome analysis revealed a homozygous MOCS3 missense mutation, leading to a p.Ala257Thr substitution in the highly conserved ubiquitin-like-domain of the protein...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544239/a-novel-variant-in-med12-gene-further-delineation-of-phenotype
#2
Dhanya L Narayanan, Shubha R Phadke
MED12 is a multiprotein mediator complex, which has a role in cell growth and differentiation and has been implicated in three distinct X-linked intellectual disability syndromes with distinctive clinical features. These include Opitz-Kaveggia syndrome (FG syndrome), Lujan syndrome, and X-linked Ohdo syndrome. Recently MED12 variants have been implicated in isolated X-linked intellectual disability. We describe a 5-year-old male patient with intellectual disability and facial dysmorphism and a novel variant in MED12 gene identified by Whole Exome Sequencing...
May 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28542865/disruption-of-ywhae-gene-at-17p13-3-causes-learning-disabilities-and-brain-abnormalities
#3
Abdul Noor, Simina Bogatan, Nicholas Watkins, Wendy S Meschino, Dimitri J Stavropoulos
There is a broad phenotypic spectrum of patients with 17p13.3 deletions. One of the most prominent features is lissencephaly caused by haploinsufficiency of the gene PAFAH1B1. The deletion of this gene and those distal to it, results in Miller-Dieker syndrome, however there have been many reports of patients with haploinsufficiency of the distal genes alone. The deletions of these genes including YWHAE, CRK and TUSC5 have been studied extensively and YWHAE has been postulated to be the cause of neurological abnormalities...
May 23, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28541768/sex-differences-in-the-presentation-of-body-dysmorphic-disorder-in-a-community-sample-of-adolescents
#4
Sophie C Schneider, Jonathan Mond, Cynthia M Turner, Jennifer L Hudson
The current study sought to explore sex differences in the presentation of probable full-syndrome and subthreshold body dysmorphic disorder (BDD) in adolescents from an Australian community sample. Specifically, it examined sex differences in the types of BDD symptoms endorsed, body areas of concern, and the association with elevated symptoms of comorbid disorders. In male participants, it also compared the presenting features of those with and without muscle dysmorphia. Of 3,149 adolescents assessed using self-report questionnaires, 162 (5...
May 25, 2017: Journal of Clinical Child and Adolescent Psychology
https://www.readbyqxmd.com/read/28541279/do-the-data-really-support-ordering-fragile-x-testing-as-a-first-tier-test-without-clinical-features
#5
Veronique Weinstein, Pranoot Tanpaiboon, Kimberly A Chapman, Nicholas Ah Mew, Sean Hofherr
PurposeCurrent guidelines recommend first-tier chromosome microarray analysis (CMA) and fragile X syndrome (FX) testing for males with isolated intellectual disabilities/learning delay (ID/LD) and autism spectrum disorders (ASDs).MethodsMales in our clinic with ID/LD or ASD (310) were analyzed for positive results from CMA and/or FX testing.ResultsCMA detected abnormalities in 29% of males with ID/LD and only 9% of males with ASD (including variants of uncertain significance and absence of heterozygosity). When males with ID/LD were tested for FX, the detection rate was 2...
May 25, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28540185/mitochondrial-myopathy-dysmorphism-exercise-induced-vomiting-and-tachycardia-the-mutation-m-4831g%C3%A2-%C3%A2-a
#6
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28528596/face-and-object-perception-in-body-dysmorphic-disorder-versus-obsessive-compulsive-disorder-the-mooney-faces-task
#7
Wei Lin Toh, David J Castle, Susan L Rossell
OBJECTIVES: Body dysmorphic disorder (BDD) is characterized by repetitive behaviors and/or mental acts occurring in response to preoccupations with perceived defects or flaws in physical appearance. There are some similarities, but also important differences, between BDD and obsessive-compulsive disorder (OCD), not just in terms of core clinical symptoms, but possibly in the domain of perception. This study compared the nature and extent of perceptual anomalies in BDD versus OCD and health controls (HC), using a modified Mooney task...
May 22, 2017: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/28523332/apert-syndrome-clinical-case
#8
Mirela Anişoara Siminel, Cristian Ovidiu NeamŢu, Damian DiŢescu, Mircea Cătălin ForŢofoiu, Alexandru Cristian Comănescu, Marius Bogdan Novac, Simona Daniela NeamŢu, Adrian Gluhovschi
Apert syndrome - acrocephalosyndactyly - is a rare autosomal dominant disorder representing 1:65 000 cases of living newborns. Characteristic malformations of the Apert syndrome are early craniostenosis, microviscerocranium and II-V finger syndactyly of hand and toes with proximal phalanx of the bilateral thumb "in delta". It is difficult to determine prenatal diagnosis in the second quarter, when examining the morphology of fetal signs; the dysmorphism signs appeared in the third pregnancy quarter. We present here the case of a newborn with Apert syndrome that was born prematurely in our Clinic after a monitored pregnancy, where there was issued a suspicion of cranio-facial dysmorphism, malposition and malformation of the feet and hands in the third quarter of prenatal pregnancy...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28517030/gerbode-defect-and-multivalvular-dysfunction-complex-complications-in-adult-congenital-heart-disease
#9
Catarina Ruivo, Joana Guardado, Fernando Montenegro Sá, Fátima Saraiva, Alexandre Antunes, Joana Correia, João Morais
We report a clinical case of a 40-year-old male with surgically corrected congenital heart disease (CHD) 10 years earlier: closure of ostium primum, mitral annuloplasty, and aortic valve and root surgery. The patient was admitted with acute heart failure. Transesophageal echocardiography (TEE) revealed a dysmorphic and severely incompetent aortic valve, a partial tear of the mitral valve cleft repair and annuloplasty ring dehiscence. A true left ventricular-to-right atrial shunt confirmed a direct Gerbode defect...
May 18, 2017: Echocardiography
https://www.readbyqxmd.com/read/28515796/genetic-heterogeneity-of-patients-with-suspected-silver-russell-syndrome-genome-wide-copy-number-analysis-in-82-patients-without-imprinting-defects
#10
Takanobu Inoue, Akie Nakamura, Tomoko Fuke, Kazuki Yamazawa, Shinichiro Sano, Keiko Matsubara, Seiji Mizuno, Yoshika Matsukura, Chie Harashima, Tatsuji Hasegawa, Hisakazu Nakajima, Kumi Tsumura, Zenro Kizaki, Akira Oka, Tsutomu Ogata, Maki Fukami, Masayo Kagami
BACKGROUND: Silver-Russell syndrome (SRS) is a rare congenital disorder characterized by pre- and postnatal growth failure and dysmorphic features. Recently, pathogenic copy number variations (PCNVs) and imprinting defects other than hypomethylation of the H19-differentially methylated region (DMR) and maternal uniparental disomy chromosome 7 have been reported in patients with the SRS phenotype. This study aimed to clarify the frequency and clinical features of patients with SRS phenotype caused by PCNVs...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28511829/suicidal-behaviors-in-the-dermatology-patient
#11
Madhulika A Gupta, Daiana R Pur, Branka Vujcic, Aditya K Gupta
An assessment of suicidal behaviors in the dermatology patient may be necessary in several situations: (1) in the presence of psychiatric comorbidity (major depressive disorder, body dysmorphic disorder, substance use disorder, posttraumatic stress disorder), encountered in up to 30% of dermatology patients; (2) when dermatologic symptoms ("dysmorphophobia," dermatitis artefacta) represent psychiatric pathologic conditions; (3) when psychosocial stressors (bereavement, interpersonal violence) increase the risk of suicidal behavior and exacerbate stress-reactive dermatoses (psoriasis, acne); (4) in the presence of high disease burden (chronicity, increased disease severity); (5) in instances of significant pruritus or chronic sleep disruption; (6) in the presence of facial lesions or facial scarring; (7) when social exclusion or feelings of alienation arise secondary to the skin disorder; (8) with use of medications (retinoids, biologics) for which suicidal behavior has been implicated as a possible side effect; and (9) when treating psychiatric patients experiencing a serious reaction to psychotropic medications (eg, Stevens-Johnson syndrome and anticonvulsants)...
May 2017: Clinics in Dermatology
https://www.readbyqxmd.com/read/28511828/body-dysmorphic-disorder-in-the-dermatology-patient
#12
Caroline S Koblenzer
Body dysmorphic disorder is primarily a psychiatric disorder, in which the patient believes that some normal or very near normal aspect of his or her physical appearance is distorted or ugly. Should there be a minor abnormality, it is grossly exaggerated in the mind of the patient, causing feelings of shame and embarrassment and leading daily to spending hours at the mirror, or any reflecting surface, as the patient tries to conceal or remove the perceived abnormality through the development of ritualistic behavior...
May 2017: Clinics in Dermatology
https://www.readbyqxmd.com/read/28511820/somatic-symptom-disorder-in-dermatology
#13
James L Levenson, Aditi A Sharma, Alex G Ortega-Loayza
Somatic symptom disorder (SSD) is defined by the prominence of somatic symptoms associated with abnormal thoughts, feelings, and behaviors related to the symptoms, resulting in significant distress and impairment. Individuals with these disorders are more commonly encountered in primary care and other medical settings, including dermatology practice, than in psychiatric and other mental health settings. What defines the thoughts, feelings, and behaviors as abnormal is that they are excessive, that is, out of proportion to other patients with similar somatic symptoms, and that they result in significant distress and impairment...
May 2017: Clinics in Dermatology
https://www.readbyqxmd.com/read/28511170/mosaic-trisomy-9p-in-a-patient-with-mild-dysmorphic-features-and-normal-intelligence
#14
Randeep Brar, Donald G Basel, David P Bick, LuAnn Weik, Peter vanTuinen, Jess F Peterson
To the Editor: Partial and whole duplications of the short arm of chromosome 9 have been commonly reported in the literature with characteristic phenotypic features and intellectual disabilities. The clinical features of 9p duplications are broad and can include growth retardation, developmental delay, intellectual disability, microbrachycephaly, deep set eyes, hypertelorism, downslanting palpebral fissures, prominent nasal root, bulbous nasal tip, low-set ears, short fingers and toes with hypoplastic nails, and delayed bone age (Bonaglia et al...
2017: Journal of the Association of Genetic Technologists
https://www.readbyqxmd.com/read/28509670/pediatric-nasal-surgery-timing-and-technique
#15
Celeste C Gary
PURPOSE OF REVIEW: Timing of pediatric nasal surgery has always been a controversial topic. Concern over disrupting growing parts of the face and causing permanent facial deformity has led to a primarily conservative approach. Many surgeons feel that it is prudent to wait until the patient has completed nasal growth after puberty to pursue nasal surgery. RECENT FINDINGS: Recently, this attitude has been challenged with evidence that not only is nasal surgery in the pediatric age group not a detriment to facial growth, but failure to correct significant nasal deformity may actually cause dysmorphic facial growth secondary to obligate mouth breathing...
May 13, 2017: Current Opinion in Otolaryngology & Head and Neck Surgery
https://www.readbyqxmd.com/read/28503387/rubinstein-taybi-syndrome-associated-with-pituitary-macroadenoma-a-case-report
#16
Yasamin Olyaei, J Manuel Sarmiento, Serguei I Bannykh, Doniel Drazin, Robert T Naruse, Wesley King
Rubinstein-Taybi Syndrome (RSTS) is an autosomal dominant disorder that is classically characterized by prenatal and postnatal growth restriction, microcephaly, dysmorphic craniofacial features, broad thumbs and toes, and intellectual disability. We describe the first reported case of a pituitary macroadenoma associated with RSTS. A 39-year-old Caucasian female with a past medical history of RSTS diagnosed at age two was found to have a gadolinium-enhancing pituitary mass on magnetic resonance imaging (MRI) of the brain three years ago during workup for migraine-like headaches...
April 11, 2017: Curēus
https://www.readbyqxmd.com/read/28500832/combined-pituitary-hormone-deficiency-in-a-girl-with-48-xxxx-and-rathke-s-cleft-cyst
#17
Surabhi Uppal, Youn Hee Jee, Marissa Lightbourne, Joan C Han, Constantine A Stratakis
BACKGROUND: Tetrasomy X is a rare chromosomal aneuploidy seen in girls, associated with facial dysmorphism, premature ovarian insufficiency and intellectual disability. A Rathke's cleft cyst (RCC) is a remnant of Rathke's pouch which may cause multiple pituitary hormone deficiencies by exerting pressure on the pituitary gland in the sella. METHODS/RESULTS: The patient was diagnosed with tetrasomy X by karyotyping during infancy. Brain MRI and multiple endocrine stimulation tests revealed RCC and combined pituitary hormone deficiency (growth hormone deficiency, secondary adrenal insufficiency and central hypothyroidism) likely due to RCC...
January 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28497002/overlap-between-fibular-aplasia-tibial-campomelia-and-oligosyndactyly-and-fuhrmann-s-syndromes-in-an-egyptian-female-infant
#18
Ebtesam M Abdalla, Ahmed A El-Beheiry
We report a rare congenital limb defect with combined features of both fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) and Fuhrmann's syndromes. A female newborn infant, born to nonconsanguineous Egyptian parents, presented with isolated abnormalities of the lower limbs comprising bilateral shortening and anterior bowing of the lower limbs at the distal third of the tibia and split foot. Radiographic examination revealed complete absence of both fibulae, anterolateral bowing and shortening of the tibia, bowing of the femora, and absence of several metatarsal and phalangeal bones...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28496510/constrictive-pericarditis-and-primary-amenorrhea-with-syndactyly-in-an-iranian-female-mulibrey-nanism-syndrome
#19
Tahereh Davarpasand, Maryam Sotoudeh Anvari, Mohammad Naderan, Mohammad Ali Boroumand, Hossein Ahmadi
Mulibrey nanism is a rare autosomal recessive syndrome caused by a mutation in the TRIM37 gene with severe growth retardation and multiple organ involvement. Early diagnosis is important because 50% of the patients develop congestive heart failure owing to constrictive pericarditis, and this condition plays a critical role in the final prognosis. A 37-year-old female patient presented with symptoms of dyspnea on exertion and shortness of breath. She had severe growth failure and craniofacial dysmorphic feature...
October 3, 2016: Journal of Tehran Heart Center
https://www.readbyqxmd.com/read/28494457/resveratrol-protects-against-pulmonary-arterial-hypertension-in-rats-via-activation-of-silent-information-regulator-1
#20
Lei Yu, Yingfeng Tu, Xueling Jia, Kun Fang, Li Liu, Lin Wan, Chuanying Xiang, Yanan Wang, Xiangju Sun, Tianyou Liu, Dejun Yu, Weiwei Cao, Yinli Song, Yuhua Fan
BACKGROUND/OBJECTIVES: The polyphenol resveratrol (Rev) has been found to exhibit various beneficial effects including prevention of pulmonary arterial hypertension (PAH). The present study was designed to investigate the action and potential mechanism of Rev on PAH, focusing on the role of SIRT1 (Silent Information Regulator 1) in apoptosis of pulmonary artery smooth muscle cells (PASMCs). METHODS: PAH rats were established by exposure to hypoxia for 21 days. Rev and SRT1720 (a selective SIRT1 activator) were used to reverse PAH by gavaging rats...
May 11, 2017: Cellular Physiology and Biochemistry
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