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Clinical Dysmorphology

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https://www.readbyqxmd.com/read/29994870/a-case-of-diencephalic-syndrome-presenting-with-isolated-lipodystrophy
#1
John H McDermott, Julie Harris, Joanne Fédée, Mars Skae, Robert Semple, Sofia Douzgou
Diencephalic syndrome is a disorder characterized by severe emaciation during childhood. The rarity of the disorder coupled with nonspecific symptomology means that there is often a protracted diagnostic journey. Here, we report a child who was referred to a clinical genetics service for investigation of lipodystrophy and failure to thrive. A broad range of genetic differential diagnoses were considered and investigated before a mass lesion was identified in the hypothalamus, confirming diencephalic syndrome...
July 9, 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29985174/facial-profile-and-additional-features-in-fetuses-with-trisomy-21
#2
Periyasamy Radhakrishnan, Shalini S Nayak, Anju Shukla, Katta M Girisha
Aneuploidies occur in about 5% of clinically recognized pregnancies. Facial gestalt is a vital tool for the clinical diagnosis of trisomy 21. Facial anomalies are subtle in fetal life and challenging for a clinician not familiar with perinatal dysmorphology. Here, we present the facial profile and additional features in six fetuses with Down syndrome as a visual aid. We present the facial photographs of six fetuses with genetically confirmed trisomy 21. These photographs will serve as a diagnostic aid for trisomy 21 in perinatal dysmorphology...
July 5, 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29944490/a-rare-mutation-in-the-epg5-gene-causes-vici-syndrome
#3
Emine Demiral, Askin Sen, Zeynep Esener, Serdar Ceylaner, Ibrahim Tekedereli
No abstract text is available yet for this article.
June 25, 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29939863/shank3-variant-as-a-cause-of-nonsyndromal-autism-in-an-11-year-old-boy-and-a-review-of-published-literature
#4
Farah Kanani, Ddd Study, Meena Balasubramanian
Autism spectrum disorder (ASD) encompasses a spectrum of pervasive neuropsychiatric disorders characterized by deficits in social interaction, communication, unusual and repetitive behaviours. The aetiology of ASD is believed to involve complex interactions between genetic and environmental factors; it can be further classified as syndromic or nonsyndromic, according to whether it is the primary diagnosis or secondary to an existing condition where both common and rare genetic variants contribute to the development of ASD or are clearly causal...
June 22, 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29912012/a-case-report-of-a-suspected-dual-diagnosis-22q11-2-deletion-syndrome-and-x-linked-chondrodysplasia-punctata
#5
Elise Brimble, Michelle Pacione, Ellyn Farrelly, David A Stevenson, Maura R Z Ruzhnikov
No abstract text is available yet for this article.
June 14, 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29912011/familial-impairment-of-vocal-cord-mobility-in-childhood-with-clubfoot
#6
Rebecca Shaw, Cristina Dias, Jeffrey Ludemann, Rosemarie Rupps, Vance Tsai, Anna Lehman
We report on a family with three siblings, male and female, affected by congenital bilateral limitation of vocal cord abduction, with the additional finding of clubfeet in two. The paternal family history suggests an autosomal dominant inheritance. The siblings and father also have mild craniofacial features, which may be an expression of variability or may be unrelated. The association between congenital vocal cord paralysis and clubfeet has been reported with additional major features or in the context of Charcot-Marie-Tooth disease...
June 14, 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29864040/robinow-syndrome-a-diagnosis-at-the-fingertips
#7
Chaya N Murali, Beth Keena, Elaine H Zackai
No abstract text is available yet for this article.
June 1, 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29847353/a-large-interstitial-11q-deletion-with-isolated-mild-intellectual-disability-review-of-the-literature-for-genotype-phenotype-correlation
#8
Meenakshi Lallar, Priyanka Srivastava, Shubha R Phadke
No abstract text is available yet for this article.
May 29, 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29846190/case-report-of-two-siblings-with-a-novel-homozygous-mutation-in-col7a1-leads-to-recessive-dystrophic-epidermolysis-bullosa-which-type
#9
Evren Gumus
No abstract text is available yet for this article.
May 24, 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29864108/a-novel-fbn2-mutation-in-a-turkish-case-with-congenital-contractural-arachnodactyly
#10
LETTER
Abdullah I Gürler, Zafer Yüksel, Kadri Karaer
No abstract text is available yet for this article.
July 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29864107/hhid-syndrome-with-plantar-fat-pads-caused-by-a-de-novo-arid1b-mutation
#11
Mohamed Wafik, Usha Kini
No abstract text is available yet for this article.
July 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29782338/chinese-patients-with-p-ala172phe-related-pfeiffer-syndrome-a-case-and-literature-review
#12
Shirley Sze Wing Cheng, Ivan Fai-Man Lo, Ho-Ming Luk
No abstract text is available yet for this article.
July 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29738340/de-novo-interstitial-2-33-mb-deletion-in-8q24-3-new-insights-on-a-very-rare-partial-monosomy-syndrome
#13
Susan Akbaroghli, Seyed H Tonekaboni, Roxana Kariminejad, Thomas Liehr, Emanuele G Coci
No abstract text is available yet for this article.
July 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29738339/a-case-with-isochromosome-18p-and-2q13-deletion-including-the-bub1-gene
#14
Akif Ayaz, Ali Topak, Sinem Yalcintepe, Tamer Celik, Kanay Yararbas, Metin Eser, Ozge O Yuregir
No abstract text is available yet for this article.
July 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29683802/a-study-of-familial-char-syndrome-involving-the-tfap2b-gene-with-a-focus-on-facial-shape-characteristics
#15
Daniel Nyboe, Sven Kreiborg, Tron Darvann, Morten Dunø, Kamilla R Nissen, Hanne B Hove
In this case study, we investigate a child presenting with patent ductus arteriosus, short philtrum, duck-bill lips, strabismus, a flat nasal bridge, a broad forehead, low-set ears, hypertelorism, up-slanting palpebral fissures, almond-shaped eyes, and hypodontia, all leading to the clinical diagnosis of Char syndrome. Genetic analysis showed heterozygosity for the novel variant c.851T>C, p. Leu284Ser in the TFAP2B gene. Family analysis suggested that at least 20 members, extending six generations back, were affected...
July 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29624507/a-rare-symptom-of-a-very-rare-disease-a-case-report-of-a-oculodentodigital-dysplasia-with-lymphedema
#16
Evren Gumus
No abstract text is available yet for this article.
July 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29595750/cant%C3%A3%C2%BA-syndrome-the-changing-phenotype-a-report-of-the-two-oldest-dutch-patients
#17
Helen I Roessler, Catharina M L Volker-Touw, Paulien A Terhal, Gijs van Haaften, Mieke M van Haelst
No abstract text is available yet for this article.
July 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29595749/a-novel-in-frame-deletion-in-zmpste24-is-associated-with-autosomal-recessive-acrogeria-gottron-type-in-an-extended-consanguineous-family
#18
Reza Maroofian, Michela Murdocca, Hossein Rezaei-Delui, Amirhossein Nekooei, Majid Mojarad, Federica Sangiuolo, Giuseppe Novelli, Andrea Superti-Furga, Maria Rosaria D'Apice
No abstract text is available yet for this article.
July 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29494358/complex-cranio-vertebral-malformation-disruption-sequence-or-iniencephaly
#19
Marzia Pollazzon, Simonetta Rosato, Ivan Ivanovski, Chiara Gelmini, Gianna Bertani, Rosario Pascarella, Manuela Napoli, Livia Garavelli, Sheila Unger, Andrea Superti-Furga
No abstract text is available yet for this article.
July 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29505454/a-newborn-diagnosed-with-van-maldergem-syndrome
#20
Dilek Ulubas Isik, Sezin Unal, Sara Erol, Zehra Arslan, Ahmet Y Bas, Nihal Demirel
No abstract text is available yet for this article.
April 2018: Clinical Dysmorphology
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