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Clinical Dysmorphology

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https://www.readbyqxmd.com/read/28059850/jejunal-atresia-and-unilateral-postaxial-polydactyly-second-report-of-a-rare-association
#1
Patricia Miranda, Anne Slavotinek
No abstract text is available yet for this article.
January 4, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28027064/novel-pathogenic-variant-in-the-hras-gene-with-lethal-outcome-and-a-broad-phenotypic-spectrum-among-polish-patients-with-costello-syndrome
#2
Magdalena Pelc, Elżbieta Ciara, Aleksandra Jezela-Stanek, Monika Kugaudo, Agata Cieślikowska, Dorota Jurkiewicz, Magdalena Janeczko, Krystyna Chrzanowska, Małgorzata Krajewska-Walasek, Agata Skórka
Costello syndrome (CS) is a rare congenital disorder from the group of RASopathies, characterized by a distinctive facial appearance, failure to thrive, cardiac and skin anomalies, intellectual disability, and a predisposition to neoplasia. CS is associated with germline mutations in the proto-oncogene HRAS, a small GTPase from the Ras family. In this study, a molecular and clinical analysis was carried out in eight Polish patients with the Costello phenotype. A molecular test showed two known heterozygous mutations in the first coding exon of the gene in seven patients: p...
December 23, 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28027063/rubinstein-taybi-because-of-a-novel-ep300-mutation-with-novel-clinical-findings
#3
Mateusz Jagla, Tomasz B Tomasik, Aleksandra Czyz, Mateusz Krol, Jeroen K J van Houdt, Przemko Kwinta, Beata A Nowakowska
No abstract text is available yet for this article.
December 23, 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27977424/a-new-case-series-of-crisponi-syndrome-in-a-turkish-family-and-review-of-the-literature
#4
Bilge Bayraktar-Tanyeri, Mervenur Hepokur, Suleyman Bayraktar, Ivana Persico, Laura Crisponi
Crisponi syndrome/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder with a complex phenotype, reported in the neonatal period for CS and in the evolutive one for CISS. The syndrome usually manifests at birth. The aim of this study was to report on three new patients with CS and review the Turkish patients. We report here on three patients from two related families harboring a homozygous mutation in the cytokine receptor-like factor-1 (CRLF1) gene. DNA samples of the three patients and their parents were subjected to a mutational analysis of the CRLF1 gene at the Institute of Biomedical and Genetic Research - National Research Council, Cagliari (Italy)...
December 13, 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27870659/a-novel-twist1-gene-mutation-in-a-patient-with-saethre-chotzen-syndrome
#5
Şule Altiner, Halil G Karabulut, Kanay Yararbaş, Ajlan Tükün, Corinne Collet, Pinar Kocaay, Merih Berberoğlu, Hatice Ilgin Ruhi
No abstract text is available yet for this article.
November 18, 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27824632/ichthyosis-congenita-with-biliary-atresia-a-rare-association
#6
Shrikiran Aroor, Sandeep Kumar, Suneel Mundkur, Katta M Girisha
No abstract text is available yet for this article.
November 7, 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27759572/de-novo-pure-partial-trisomy-6-p22-3%C3%A2-pter-a-case-report-and-review-of-the-literature
#7
Aswini Sivasankaran, Kanakavalli Murthy, Venkata P Oruganti, Anuradha Deenadayalu, Chandra R Samuel, Lakshmi R Kandukuri
Partial trisomy of the short arm of chromosome 6 is a rare and clinically distinct syndrome. The breakpoints have been found to be variable ranging from bands 6p11 to 6p25. This study reports partial trisomy for 6p22.3→pter in a 2-year-old boy referred with a complaint of developmental delay and facial dysmorphism. Conventional cytogenetic analysis showed the presence of an abnormal chromosome 5 resulting from an unbalanced translocation in the proband. Array comparative genomic hybridization revealed trisomy of distal 6p which was confirmed by fluorescence in situ hybridization using subtelomeric probes for chromosomes 5 and 6...
January 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27753653/short-case-report-xq23-deletion-involving-pak3-as-a-novel-cause-of-developmental-delay-in-a-6-year-old-boy
#8
Ashley Cartwright, Kath Smith, Meena Balasubramanian
No abstract text is available yet for this article.
January 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27750267/a-del-13-q21-32q31-2-dn-refined-to-21-9%C3%A2-mb-in-a-female-toddler-with-irides-heterochromia-and-hypopigmentation-appraisal-of-interstitial-mid-13q-deletions
#9
Carlos Córdova-Fletes, Horacio Rivera, Eduardo A Garza-Villarreal, Norma A Vázquéz-Cárdenas, Lizeth A Martínez-Jacobo, Talia Moreno-Andrade
No abstract text is available yet for this article.
January 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27749393/a-case-of-9q21-11q22-1-triplication-with-novel-ophthalmic-features
#10
Neeru A Vallabh, Aram Buchanan, Magda Ainscough, William Newman, Alan Fryer
No abstract text is available yet for this article.
January 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27749392/combined-ultrasound-and-exome-sequencing-approach-recognizes-opitz-g-bbb-syndrome-in-two-malformed-fetuses
#11
Anna Maria Pinto, Valentina Imperatore, Laura Bianciardi, Margherita Baldassarri, Paolo Galluzzi, Simone Furini, Giovanni Centini, Alessandra Renieri, Francesca Mari
Orofacial clefts are the most common congenital craniofacial anomalies and can occur as an isolated defect or be associated with other anomalies such as posterior fossa anomalies as a part of several genetic syndromes. We report two consecutive voluntary pregnancy interruptions in a nonconsanguineous couple following the fetal ultrasound finding of cleft lip and palate and posterior fossa anomalies confirmed by means of post-termination examination on the second fetus. The quantitative fluorescent PCR, the karyotype, and the comparative genomic hybridization-array analysis after amniocentesis were normal...
January 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27576021/metaphyseal-dysplasia-spahr-type-missense-mmp13-mutations-in-two-iraqi-siblings
#12
Shereen Tadros, Richard H Scott, Alistair D Calder, Jane A Hurst
We report on two siblings of Iraqi descent with clinical and radiographic features of metaphyseal dysplasia, Spahr type (MDST), born to consanguineous unaffected parents. Molecular testing confirmed pathogenic mutations in MMP13. We review the considerable overlap between MDST and other related disorders. These cases confirm the phenotypic variability and regressive nature of MDST in addition to suggesting bone fragility as a feature.
January 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27547915/a-probable-new-syndrome-with-the-storage-disease-phenotype-caused-by-the-vps33a-gene-mutation
#13
Ali Dursun, Dilek Yalnizoglu, Omer F Gerdan, Didem Yucel-Yilmaz, Mahmut S Sagiroglu, Bayram Yuksel, Safak Gucer, Serap Sivri, Riza K Ozgul
We present a novel multisystem disease in two siblings with clinical features resembling a lysosomal storage disease. These included coarse face, dysostosis multiplex, respiratory difficulty, proteinuria with glomerular foamy cells, neurological involvement with developmental delays, pyramidal signs, and severe chronic anemia. Detailed enzymatic analysis for lysosomal diseases and whole-exome sequencing studies excluded known lysosomal storage diseases in the proband. Subsequently, genome-wide genotyping and exome sequencing analysis of the family indicated two large homozygous regions on chromosomes 5 and 12, and strongly suggested that a homozygous p...
January 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27390894/large-in-frame-intragenic-deletion-of-ophn1-in-a-male-patient-with-a-normal-intelligence-quotient-score
#14
Tiffany Busa, Emilie Caietta, Brigitte Chabrol, Nadine Girard, Nicole Philip, Chantal Missirian
No abstract text is available yet for this article.
January 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27383220/a-rare-cause-of-temple-syndrome
#15
Ho-Ming Luk
No abstract text is available yet for this article.
January 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27295357/recognizing-vascular-ehlers-danlos-syndrome-type-iv-in-the-newborn
#16
Caoimhe McKenna, Anthony Vandersteen, Emma Wakeling, Francis M Pope, Neeti Ghali
No abstract text is available yet for this article.
January 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27116698/follicular-thyroid-carcinoma-in-a-male-adolescent-with-williams-beuren-syndrome
#17
Nathália Bordeira Chagas, Victor Hugo Maion, Lucimar Retto da Silva de Avó, Euclides Matheucci Júnior, Michel Antonio Kiyota Moutinho, Débora G Melo, Carla Maria Ramos Germano
No abstract text is available yet for this article.
January 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27750268/the-twist2-mutation-causes-setleis-syndrome-a-rare-clinical-case-report
#18
Akif Ayaz, Sinem Yalcintepe, Ozge Ozalp Yuregir, Yavuz Sahin, Ahmet Ozer, Metin Eser, Umit Celik
No abstract text is available yet for this article.
October 12, 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27740950/the-finnish-founder-mutation-c-70-a-g-in-rmrp-causes-cartilage-hair-hypoplasia-in-a-pakistani-family
#19
Muddassar Iqbal, Niaz Muhammad, Sheikh A Ali, Svetlana Kostjukovits, Outi Mäkitie, Sadaf Naz
No abstract text is available yet for this article.
October 12, 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27753652/raf1-associated-noonan-syndrome-presenting-antenatally-with-an-abnormality-of-skull-shape-subdural-haematoma-and-associated-with-novel-cerebral-malformations
#20
Verity L Hartill, Mitchell W Dillon, Daniel J Warren, Moira Blyth
No abstract text is available yet for this article.
October 6, 2016: Clinical Dysmorphology
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