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Clinical Dysmorphology

journal
https://www.readbyqxmd.com/read/28961683/contiguous-gene-deletion-of-tbx5-and-tbx3-report-of-another-case
#1
Francesca Forzano, Patricia A Foley, Morgan R Keane, Caroline E Brain, Gill D Smith, Robert W Yates, Drew Ellershaw, Alistair D Calder, Richard H Scott
No abstract text is available yet for this article.
September 28, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28877039/left-ventricular-dysfunction-in-a-patient-with-angelman-syndrome
#2
Adam W Powell, Michael D Taylor, Robert J Hopkin, Juli Sublett, John L Jefferies
No abstract text is available yet for this article.
September 4, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28863001/arytenoid-neuromas-are-a-recognized-feature-of-sos1-mutations-causing-pure-mucosal-neuroma-syndrome
#3
Peter J Leyden, Patrick J Morrison
No abstract text is available yet for this article.
August 31, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28872565/sinus-pericranii-in-achondroplasia-a-case-report-and-review-of-the-literature
#4
Abbey A Scott, Katelyn D Hodge, Wilfredo Torres-Martinez, Stephen R Dlouhy, Jodi L Smith, David D Weaver
In the field of dysmorphology, achondroplasia is a well-known disorder. Sinus pericranii (SP), however, is not. The latter condition is a rare vascular malformation characterized by abnormal connections between the intracranial and the extracranial venous drainage pathways. The etiology of SP remains unclear, and yet, these defects can be present at birth, develop spontaneously later, or evolve following head trauma. Here, we report on a 2-year-old male with achondroplasia, SP, and craniocervical junction stenosis...
October 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28872564/a-novel-col1a1-mutation-causing-a-variant-of-osteogenesis-imperfecta
#5
Lindsey C McVey, Avril Mason, Rebecca Pollitt, Syed Faisal Ahmed, Esther Kinning
No abstract text is available yet for this article.
October 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28872563/jejunal-atresia-periodic-fevers-and-psoriatic-arthropathy-in-baraitser-winter-malformation-syndrome
#6
Avi Saskin, Marc Tischkowitz
No abstract text is available yet for this article.
October 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28832386/marfanoid-habitus-is-a-nonspecific-feature-of-perrault-syndrome
#7
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/28799946/first-female-prenatal-case-of-osteopathia-striata-with-cranial-sclerosis-in-a-fetus-carrying-a-de-novo-1-9%C3%A2-mbp-interstitial-deletion-at-xq11-1q11-2
#8
Marie-Laure Vuillaume, Anna-Gaelle Valard, Nada Houcinat, Julie Bouron, Cécile Boucher, Sylvie Deves, Jérôme Toutain, Bruno Schaub, Clara Adenet, Didier Lacombe, Michèle Gueneret, Caroline Rooryck
No abstract text is available yet for this article.
August 9, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28777121/raf1-variants-causing-biventricular-hypertrophic-cardiomyopathy-in-two-preterm-infants-further-phenotypic-delineation-and-review-of-literature
#9
Danielle Thompson, Jessica Patrick-Esteve, Jeffrey W Surcouf, Dana Rivera, Bianca Castellanos, Pooja Desai, Christian Lilje, Yves Lacassie, Michael Marble, Regina Zambrano
Noonan syndrome (NS) is an autosomal dominant disorder characterized by distinctive facial features, short neck, short stature, congenital heart defects, pectus deformities, and variable developmental delays. NS is genetically heterogeneous as pathogenic variants in several genes involved in the Ras/mitogen-activated protein kinase pathway have been associated with a NS phenotype. Overall, 50% of patients harbor pathogenic variants in PTPN11, whereas 3-17% of patients have variants in RAF1. We present two premature neonates with progressive biventricular hypertrophy found to have RAF1 variants in the CR2 domain...
August 3, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28763312/3q29-chromosomal-duplication-in-a-neonate-with-associated-myelomeningocele-and-midline-cranial-defects
#10
Marley B Lawrence, Alexandra Arreola, Michael Cools, Scott Elton, Karen S Wood
No abstract text is available yet for this article.
July 31, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28746062/hyperechoic-renal-medullary-pyramids-in-a-boy-with-simpson-golabi-behmel-syndrome
#11
Takaya Nakane, Emi Sawanobori, Hirofumi Ohashi, Kanji Sugita
No abstract text is available yet for this article.
July 25, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28737552/two-familial-intrachromosomal-insertions-with-maternal-dup-6-p22-3p25-3-or-dup-2-q24-2q32-1-in-recombinant-offspring
#12
María G Domínguez, Horacio Rivera, Adriana Aguilar-Lemarroy, Luis F Jave-Suarez, Azubel Ramírez-Velazco, Isaura A González-Ramos, Patricio Barros-Núñez, Miriam Partida-Pérez, Bianca E Gutiérrez-Amavizca, Aniel Jl Brambila-Tapia, Luis E Figuera
In this study, we describe two patients with a recombinant chromosome secondary to a maternal intrachromosomal insertion. Patient 1 was a girl with dup(6)(p22.3p25.3). Patient 2 was a boy with dup(2)(q24.2q32.1). Both familial rearrangements were characterized by means of GTG-bands, fluorescence in-situ hybridization, and comparative genomic hybridization microarray analyses. Patient 1 had an ∼23 Mb gain that involved the bands 6p22.3-6p25.3. Patient 2 had an ∼23 Mb gain (cytobands 2q24.2-2q32.1) and a further ∼1...
July 21, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28575890/familial-unilateral-carpal-bone-dysplasia-in-mother-and-daughter
#13
Tatsuo Fuchigami, Yukihiko Fujita, Mika Oyama, Yasuji Inamo, Shori Takahashi, Taihei Yamaguchi, Osamu Miyazaki, Gen Nishimura
No abstract text is available yet for this article.
July 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28505061/novel-ofd1-frameshift-mutation-in-a-chinese-boy-with-joubert-syndrome-a-case-report-and-literature-review
#14
Kaihui Zhang, Chen Meng, Jing Ma, Min Gao, Yuqiang Lv, Yi Liu, Zhongtao Gai
Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliopathy with a key diagnostic feature of 'molar tooth sign' in brain MRI. So far, over 20 causative genes have been identified, but only one gene (OFD1) results in X-linked Joubert syndrome 10 (JBTS10). Six mutations in the OFD1 gene have been found to cause JBTS10. In this study, we identified a novel OFD1 mutation of c.2843_2844 delAA (p.Lys948ArgfsX) in a 3-month-old boy with a 'molar tooth sign' and clinical features of JBTS using targeted exome next-generation sequencing...
July 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28471776/achalasia-microcephaly-syndrome-a-further-case-report
#15
Mohamed Wafik, Usha Kini
No abstract text is available yet for this article.
July 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28452798/familial-craniofacial-abnormality-and-polymicrogyria-associated-with-a-microdeletion-affecting-the-nfia-gene
#16
Allan Bayat, Maria Kirchhoff, Camilla G Madsen, Laura Roos, Sven Kreiborg
No abstract text is available yet for this article.
July 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28383366/a-novel-case-of-autosomal-dominant-cutis-laxa-in-a-consanguineous-family-report-and-literature-review
#17
Mehmet B Duz, Emre Kirat, Paul J Coucke, Erkan Koparir, Alper Gezdirici, Anne De Paepe, Bert Callewaert, Mehmet Seven
Autosomal dominant cutis laxa (ADCL, OMIM #123700) is a rare connective tissue disorder characterized by loose, redundant skin folds that may be apparent form birth or appear later in life. Most severely affected areas are the neck, axillar regions, trunk, and groin. Typically, patients present with characteristic facial features including a premature aged appearance, long philtrum, a high forehead, large ears, and a beaked nose. Cardiovascular and pulmonary complications include bicuspid aortic valves, aortic root dilatation, and emphysema...
July 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28288024/3q27-3-microdeletion-syndrome-further-delineation-of-the-second-region-of-overlap-and-atopic-dermatitis-as-a-phenotypic-feature
#18
Rosalyn Jewell, Bennett Eng, Andrea Coates, Sarah Hewitt, Emma Hobson
No abstract text is available yet for this article.
July 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28277378/congenital-radial-head-dislocation-and-low-immunoglobulin-m-levels-in-6p25-3-deletion
#19
Órla Walsh, Colleen Heffernan, Stephanie Ryan, Karina Butler, Sally A Lynch
No abstract text is available yet for this article.
July 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28277377/de-novo-williams-beuren-and-inherited-marfan-syndromes-in-a-patient-with-developmental-delay-and-lens-dislocation
#20
Magdalena Budisteanu, Sorina M Papuc, Andreea C Tutulan-Cunita, Bogdan Budisteanu, Eva Weis, Aurora Arghir, Ulrich Zechner, Oliver Bartsch
No abstract text is available yet for this article.
July 2017: Clinical Dysmorphology
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