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Clinical Dysmorphology

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https://www.readbyqxmd.com/read/28505061/novel-ofd1-frameshift-mutation-in-a-chinese-boy-with-joubert-syndrome-a-case-report-and-literature-review
#1
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...
May 12, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28471776/achalasia-microcephaly-syndrome-a-further-case-report
#2
Mohamed Wafik, Usha Kini
No abstract text is available yet for this article.
May 3, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28452798/familial-craniofacial-abnormality-and-polymicrogyria-associated-with-a-microdeletion-affecting-the-nfia-gene
#3
Allan Bayat, Maria Kirchhoff, Camilla G Madsen, Laura Roos, Sven Kreiborg
No abstract text is available yet for this article.
April 27, 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
#4
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...
April 5, 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
#5
Rosalyn Jewell, Bennett Eng, Andrea Coates, Sarah Hewitt, Emma Hobson
No abstract text is available yet for this article.
March 10, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28288023/the-evolving-craniofacial-phenotype-of-a-patient-with-sensenbrenner-syndrome-caused-by-ift140-compound-heterozygous-mutations
#6
Allan Bayat, Bronwyn Kerr, Sofia Douzgou
No abstract text is available yet for this article.
March 10, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28277378/congenital-radial-head-dislocation-and-low-immunoglobulin-m-levels-in-6p25-3-deletion
#7
Órla Walsh, Colleen Heffernan, Stephanie Ryan, Karina Butler, Sally A Lynch
No abstract text is available yet for this article.
March 8, 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
#8
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.
March 8, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28263952/de-novo-setd5-nonsense-mutation-associated-with-diaphragmatic-hernia-and-severe-cerebral-cortical-dysplasia
#9
Lettie E Rawlins, Karen L Stals, Julian D Eason, Peter D Turnpenny
No abstract text is available yet for this article.
April 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28257338/expansion-of-the-phenotypic-spectrum-in-three-families-of-methyl-cpg-binding-protein-2-duplication-syndrome
#10
Amita Moirangthem, Moni Tuteja Bhatia, Priyanka Srivastava, Kausik Mandal, Archana Rai, Shubha R Phadke
The methyl CpG-binding protein 2 duplication syndrome (OMIM #300260) is characterized by hypotonia, developmental delay, spasticity, seizures, and recurrent infections. It is fully penetrant in males and the females can have varied manifestations because of skewed X-inactivation. The size of the duplication can range from 0.2 Mb to over 100 Mb. Around 150 cases have been reported in the literature so far. Here, we report the unusual findings in three cases such as hepatomegaly, ataxia and females with mild intellectual disability that further expand the phenotypic spectrum of this disorder...
April 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28225382/extreme-phenotypes-of-loeys-dietz-syndrome
#11
Madeleine J Tooley, Graham A Stuart, Andrew J Tometzki, Ann Oliver, Ingrid J Scurr
No abstract text is available yet for this article.
April 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28166087/genitourinary-malformations-an-under-recognized-feature-of-ectrodactyly-ectodermal-dysplasia-and-cleft-lip-palate-syndrome
#12
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...
April 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28145909/novel-tbx3-mutation-in-a-family-of-cypriot-ancestry-with-ulnar-mammary-syndrome
#13
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...
April 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28059850/jejunal-atresia-and-unilateral-postaxial-polydactyly-second-report-of-a-rare-association
#14
Patricia Miranda, Anne Slavotinek
No abstract text is available yet for this article.
April 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
#15
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...
April 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27977424/a-new-case-series-of-crisponi-syndrome-in-a-turkish-family-and-review-of-the-literature
#16
REVIEW
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)...
April 2017: 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
#17
Verity L Hartill, Mitchell W Dillon, Daniel J Warren, Moira Blyth
No abstract text is available yet for this article.
April 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27753651/familial-kagami-ogata-syndrome-in-chinese
#18
Ho-Ming Luk
No abstract text is available yet for this article.
April 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27750268/the-twist2-mutation-causes-setleis-syndrome-a-rare-clinical-case-report
#19
Akif Ayaz, Sinem Yalcintepe, Ozge Ozalp Yuregir, Yavuz Sahin, Ahmet Ozer, Metin Eser, Umit Celik
No abstract text is available yet for this article.
April 2017: 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
#20
Muddassar Iqbal, Niaz Muhammad, Sheikh A Ali, Svetlana Kostjukovits, Outi Mäkitie, Sadaf Naz
No abstract text is available yet for this article.
April 2017: Clinical Dysmorphology
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