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Clinical Dysmorphology

Zerin Hyder, Victoria Beale, Ruth O'Connor, Jill Clayton-Smith
The ectodermal dysplasia and cleft lip/palate (EEC) syndrome describes the association of ectrodactyly, ectodermal dysplasia and orofacial clefting. As with many autosomal dominant disorders, there is variability in expression and not all of these three core features are present in every individual with the condition. Moreover, there may be additional associated features, which are under-recognized. One of these is the presence of genitourinary anomalies, some of which cause significant morbidity. This report details a further two patients with EEC syndrome and genitourinary involvement, including flaccid megacystis with detrusor muscle failure, bilateral hydronephrosis and megaureter, requiring significant renal and urological involvement during their childhood...
February 3, 2017: Clinical Dysmorphology
George A Tanteles, Nayia Nicolaou, Andreas Syrimis, Rafaella Metaxa, Michael Nicolaou, Violetta Christophidou-Anastasiadou, Nicos Skordis
Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder resulting from TBX3 haploinsufficiency. It typically affects limb, apocrine gland, hair, tooth and genital development and shows marked intrafamilial and interfamilial variability in phenotypic expression. We report a family (twin brothers and their father) affected with UMS because of a novel TBX3 mutation. The twin brothers showed classical features of UMS, whereas their father was mildly affected. The c.1423C>T (p.Q475*) nonsense mutation in exon 6 of the TBX3 gene identified in the patients by targeted Sanger sequencing is predicted to lead to premature termination of translation...
January 31, 2017: Clinical Dysmorphology
Priyanka Srivastava, Poonam S Gambhir, Shubha R Phadke
No abstract text is available yet for this article.
January 17, 2017: Clinical Dysmorphology
Patricia Miranda, Anne Slavotinek
No abstract text is available yet for this article.
January 4, 2017: Clinical Dysmorphology
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
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
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
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
Ashley Cartwright, Kath Smith, Meena Balasubramanian
No abstract text is available yet for this article.
January 2017: Clinical Dysmorphology
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
Neeru A Vallabh, Aram Buchanan, Magda Ainscough, William Newman, Alan Fryer
No abstract text is available yet for this article.
January 2017: Clinical Dysmorphology
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
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
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
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
Ho-Ming Luk
No abstract text is available yet for this article.
January 2017: Clinical Dysmorphology
Caoimhe McKenna, Anthony Vandersteen, Emma Wakeling, Francis M Pope, Neeti Ghali
No abstract text is available yet for this article.
January 2017: Clinical Dysmorphology
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
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
Shrikiran Aroor, Sandeep Kumar, Suneel Mundkur, Katta M Girisha
No abstract text is available yet for this article.
November 7, 2016: Clinical Dysmorphology
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