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Clinical Dysmorphology

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https://www.readbyqxmd.com/read/29319541/fragile-x-syndrome-with-mosaic-size-mutation-in-a-bantu-patient-from-central-africa
#1
Toni K Lubala, Aimé Lumaka, Sébastien Mbuyi-Musanzayi, Tony Kayembe, Mick Y P Shongo, Olivier Mukuku, Nina Lubala, Didier Malamba-Lez, Oscar N Luboya, Prosper Lukusa-Tshilobo
No abstract text is available yet for this article.
January 9, 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29315086/six2-gene-haploinsufficiency-leads-to-a-recognizable-phenotype-with-ptosis-frontonasal-dysplasia-and-conductive-hearing-loss
#2
Alina Henn, Harald Weng, Simon Novak, Günther Rettenberger, Andreas Gerhardinger, Eva Rossier, Birgit Zirn
Heterozygous microdeletions of chromosome 2p21 encompassing only the SIX2 gene have been described in two families to date. The clinical phenotype comprised autosomal-dominant inherited frontonasal dysplasia with ptosis in one family. In the second family, conductive hearing loss was the major clinical feature described; however, the affected persons also had ptosis. Here, we present a large family combining all three predescribed features of SIX2 gene deletion. The phenotype in four affected family members in three generations consisted of bilateral congenital ptosis, epicanthus inversus, frontonasal dysplasia with broad nasal bridge and hypertelorism, frontal bossing and large anterior fontanel in childhood, narrow ear canals, and mild conductive hearing loss with onset in childhood...
January 8, 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29240611/clinical-and-molecular-characterization-of-the-first-familial-report-of-1p32-microdeletion
#3
Schaida Schirwani, Kath Smith, Meena Balasubramanian
Structural rearrangements of chromosome band 1p31p32 are rare, and their phenotypic consequences remain poorly delineated. Up to 12 patients with learning difficulties, developmental delay, multiple congenital anomalies and microdeletion of the chromosome band 1p31p32 have been described. Inheritance of this deletion has not been reported previously. We describe the inheritance of the 1p32 deletion and discuss the relevance of this deletion to the described phenotype. The differences in clinical and molecular characteristics between the proband and other published reports are reviewed...
December 13, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29240610/first-case-of-nonalcoholic-steatohepatitis-in-a-child-with-del-1p36-and-dup-xp22-review-of-the-literature
#4
Valerio Nobili, Antonella Mosca, Paola Francalanci, Digilio Maria Cristina, Bruno Dallapiccola
No abstract text is available yet for this article.
December 13, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29227307/a-patient-with-chromosome-18p-deletion-and-congenital-hypoglossia
#5
Sanne Klaphake, Marieke F van Dooren, Richelle E M Senden, A Jeannette M Hoogeboom, Eppo B Wolvius, Maarten J Koudstaal
No abstract text is available yet for this article.
December 8, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29194067/personalized-therapy-in-a-grin1-mutated-girl-with-intellectual-disability-and-epilepsy
#6
Filomena T Papa, Maria M Mancardi, Elisa Frullanti, Chiara Fallerini, Veronica Della Chiara, Laura Zalba-Jadraque, Margherita Baldassarri, Alessandra Gamucci, Francesca Mari, Edvige Veneselli, Alessandra Renieri
No abstract text is available yet for this article.
November 29, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29176366/identification-of-a-novel-homozygous-tbc1d24-mutation-in-a-turkish-family-with-doors-syndrome
#7
Engin Atli, Hakan Gurkan, Selma Ulusal, Yasemin Karal, Emine I Atli, Hilmi Tozkir
No abstract text is available yet for this article.
November 24, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29176365/parieto-occipital-alopecia-in-early-infancy-mandates-cranial-imaging
#8
Ecenur Tuc, Ercan Karaarslan, Ibrahim Celik, Yasemin Alanay
No abstract text is available yet for this article.
November 24, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29200407/a-mecom-variant-in-an-african-american-child-with-radioulnar-synostosis-and-thrombocytopenia
#9
Steven V Lord, Joaquin E Jimenez, Zachary A Kroeger, Cory S Patrick, Isalis Sanchez-Pena, Edward Ziga, Guney Bademci, Mustafa Tekin
No abstract text is available yet for this article.
January 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29200406/sensorineural-hearing-loss-in-a-patient-with-swyer-syndrome
#10
Po-Jun Chen, Hsin-Chien Chen
No abstract text is available yet for this article.
January 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28872565/sinus-pericranii-in-achondroplasia-a-case-report-and-review-of-the-literature
#11
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
#12
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
#13
Avi Saskin, Marc Tischkowitz
No abstract text is available yet for this article.
October 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28961683/contiguous-gene-deletion-of-tbx5-and-tbx3-report-of-another-case
#14
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
#15
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
#16
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/28832386/marfanoid-habitus-is-a-nonspecific-feature-of-perrault-syndrome
#17
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
#18
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
#19
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
#20
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
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