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Clinical Dysmorphology

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https://www.readbyqxmd.com/read/29782338/chinese-patients-with-p-ala172phe-related-pfeiffer-syndrome-a-case-and-literature-review
#1
Shirely Sze Wing Cheng, Ivan Fai-Man Lo, Ho-Ming Luk
No abstract text is available yet for this article.
May 18, 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
#2
Susan Akbaroghli, Seyed H Tonekaboni, Roxana Kariminejad, Thomas Liehr, Emanuele G Coci
No abstract text is available yet for this article.
May 5, 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29738339/a-case-with-isochromosome-18p-and-2q13-deletion-including-the-bub1-gene
#3
Akif Ayaz, Ali Topak, Sinem Yalcintepe, Tamer Celik, Kanay Yararbas, Metin Eser, Ozge O Yuregir
No abstract text is available yet for this article.
May 5, 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
#4
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...
April 20, 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
#5
Evren Gumus
No abstract text is available yet for this article.
April 5, 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
#6
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.
March 27, 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
#7
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.
March 27, 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29494358/complex-cranio-vertebral-malformation-disruption-sequence-or-iniencephaly
#8
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.
February 28, 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29505454/a-newborn-diagnosed-with-van-maldergem-syndrome
#9
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
https://www.readbyqxmd.com/read/29481440/blepharophimosis-ptosis-epicanthus-inversus-syndrome-caused-by-a-54-kb-microdeletion-in-a-foxl2-cis-regulatory-element
#10
Arjan Bouman, Mieke van Haelst, Rosalina van Spaendonk
No abstract text is available yet for this article.
April 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29424797/mutation-in-the-adnp-gene-associated-with-noonan-syndrome-features
#11
Ebba Alkhunaizi, Magdalena A Walkiewicz, David Chitayat
No abstract text is available yet for this article.
April 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29389715/phenotype-of-two-polish-patients-with-schaaf-yang-syndrome-confirmed-by-identifying-mutation-in-magel2-gene
#12
Karolina E Matuszewska, Magdalena Badura-Stronka, Robert Śmigiel, Magdalena Cabała, Anna Biernacka, Joanna Kosinska, Malgorzata Rydzanicz, Anna Winczewska-Wiktor, Maria Sasiadek, Anna Latos-Bieleńska, Tomasz Żemojtel, Rafal Płoski
No abstract text is available yet for this article.
April 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29381487/mandibulofacial-dysostosis-guion-almeida-type-caused-by-novel-eftud2-splice-site-variants-in-two-asian-children
#13
Kris P T Yu, Ho-Ming Luk, Christopher T Gordon, Genevieve Fung, Myriam Oufadem, Maria M Garcia-Barcelo, Jeanne Amiel, Brian H Y Chung, Ivan F M Lo, Yang Tan Tiong
Mandibulofacial dysostosis type Guion-Almeida (MFDGA) is a rare disease entity that results in congenital craniofacial anomalies that are caused by abnormal development of the first and second pharyngeal arches. MFDGA is characterized by malar and mandibular hypoplasia, microcephaly, developmental delay, dysplastic ears, and a distinctive facial appearance. Extracraniofacial malformations include esophageal atresia, congenital heart disease, and radial ray abnormalities. Heterozygous mutations in the elongation factor Tu GTP-binding domain containing 2 (EFTUD2) gene have been shown to result in MFDGA...
April 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29319541/fragile-x-syndrome-with-mosaic-size-mutation-in-a-bantu-patient-from-central-africa
#14
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.
April 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
#15
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...
April 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29240611/clinical-and-molecular-characterization-of-the-first-familial-report-of-1p32-microdeletion
#16
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...
April 2018: 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
#17
Valerio Nobili, Antonella Mosca, Paola Francalanci, Digilio Maria Cristina, Bruno Dallapiccola
No abstract text is available yet for this article.
April 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29227307/a-patient-with-chromosome-18p-deletion-and-congenital-hypoglossia
#18
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.
April 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29200407/a-mecom-variant-in-an-african-american-child-with-radioulnar-synostosis-and-thrombocytopenia
#19
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
#20
Po-Jun Chen, Hsin-Chien Chen
No abstract text is available yet for this article.
January 2018: Clinical Dysmorphology
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