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Clinical Dysmorphology

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https://read.qxmd.com/read/30762603/a-patient-with-a-novel-cntnap2-homozygous-variant-further-delineation-of-the-caspr2-deficiency-syndrome-and-review-of-the-literature
#1
Florence Riccardi, Jill Urquhart, Gary McCullagh, Peter Lawrence, Sofia Douzgou
No abstract text is available yet for this article.
February 12, 2019: Clinical Dysmorphology
https://read.qxmd.com/read/30672749/apert-syndrome-with-congenital-diaphragmatic-hernia-another-case-report-and-review-of-the-literature
#2
Ravneet Kaur, Puneeta Mishra, Surjeet Kumar, Mari J Sankar, Madhulika Kabra, Neerja Gupta
No abstract text is available yet for this article.
January 21, 2019: Clinical Dysmorphology
https://read.qxmd.com/read/30664540/fetal-edema-not-overgrowth-is-associated-with-neonatal-lethal-costello-syndrome-due-to-the-hras-p-gly12val-mutation
#3
Eric G Bend, Raymond J Louie, Roger E Stevenson
No abstract text is available yet for this article.
January 18, 2019: Clinical Dysmorphology
https://read.qxmd.com/read/30640789/autosomal-recessive-cutis-laxa-a-novel-mutation-in-the-fbln5-gene-in-a-family
#4
Ibrahim Tekedereli, Emine Demiral, Ismail K Gokce, Zeynep Esener, Emine Camtosun, Aysehan Akinci
FBLN5-related cutis laxa (CL) is a rare syndrome that can be inherited in an autosomal dominant or recessive manner. Autosomal recessive cutis laxa (ARCL), type IA, has been reported to be more severe. The disease is characterized by microcephaly, sagging cheeks, loose, wrinkled and redundant skin, emphysema, aorta or pulmonary artery abnormalities, inguinal hernia, and anomalies of internal organs. Homozygous mutations in the FBLN5 gene are responsible for the clinical manifestations. We report a family study of a child with ARCL...
January 11, 2019: Clinical Dysmorphology
https://read.qxmd.com/read/30614824/de-novo-xq21-31-q21-32-duplication-in-intellectual-disability-a-new-report
#5
Paola Cianci, Massimo Agosti, Piergiorgio Modena, Angelo Selicorni
No abstract text is available yet for this article.
January 5, 2019: Clinical Dysmorphology
https://read.qxmd.com/read/30614825/st%C3%A3-ve-wiedemann-syndrome-recurrent-neonatal-infections-caused-by-impairment-of-jak-stat-3-pathway
#6
Karolien Van De Maele, Charlotte Smulders, Ginette Ecury-Goossen, Irsa Rosina-Angelista, Egbert Redeker, Mieke van Haelst
Stüve-Wiedemann syndrome (OMIM #601559) is a rare, autosomal recessive disorder characterized by skeletal dysplasia, consecutive infections, feeding difficulties and autonomic dysregulation. We present an Afro-Caribbean family with two siblings diagnosed with Stüve-Wiedemann syndrome. The underlying loss-of-function mutation in the leukemia inhibitory factor receptor gene is thought to impair proper functioning of the JAK/STAT 3 pathway. As this affects normal functioning of T-helper cells, these patients are prone to infections with uncommon pathogens as illustrated by this case...
January 4, 2019: Clinical Dysmorphology
https://read.qxmd.com/read/30601195/novel-mutation-in-masp1-gene-in-a-new-family-with-3mc-syndrome
#7
Muserref Basdemirci, Askin Sen, Serdar Ceylaner
No abstract text is available yet for this article.
December 28, 2018: Clinical Dysmorphology
https://read.qxmd.com/read/30507726/chromosome-12q24-31-microdeletion-and-congenital-heart-disease-a-case-report-and-review-of-the-literature
#8
Neha S Bhatia, Jiin-Ying Lim, Maggie S Brett, Ene-Choo Tan, Hai Yang Law, Biju Thomas, Jonathan Choo, Angeline H M Lai, Saumya S Jamuar
No abstract text is available yet for this article.
January 2019: Clinical Dysmorphology
https://read.qxmd.com/read/30507725/does-the-clinical-phenotype-of-mucolipidosis-iii%C3%AE-differ-from-its-%C3%AE-%C3%AE-counterpart-supporting-facts-in-a-cohort-of-18-patients
#9
Sheela Nampoothiri, Nursel H Elcioglu, Suleyman S Koca, Dhanya Yesodharan, Chandrababu Kk, Vinod Krishnan, Meenakshi Bhat, Mohandas Nair K, Natasha Radhakrishnan, Mahesh Kappanayil, Jayesh J Sheth, Sandra Alves, Francisca Coutinho, Michael J Friez, Richard M Pauli, Sheila Unger, Andrea Superti-Furga, Jules G Leroy, Sara S Cathey
Mucolipidosis-IIIγ (ML-IIIγ) is a recessively inherited slowly progressive skeletal dysplasia caused by mutations in GNPTG. We report the genetic and clinical findings in the largest cohort with ML-IIIγ so far: 18 affected individuals from 12 families including 12 patients from India, five from Turkey, and one from the USA. With consanguinity confirmed in eight of 12 families, molecular characterization showed that all affected patients had homozygous pathogenic GNPTG genotypes, underscoring the rarity of the disorder...
January 2019: Clinical Dysmorphology
https://read.qxmd.com/read/30480585/a-rare-mutation-of-retinoic-acid-receptor-%C3%AE-associated-with-lethal-neonatal-matthew-wood-syndrome
#10
Stefano Nobile, Elisa Pisaneschi, Antonio Novelli, Virgilio P Carnielli
No abstract text is available yet for this article.
November 21, 2018: Clinical Dysmorphology
https://read.qxmd.com/read/30451704/meier-gorlin-syndrome-an-additional-case-report-in-an-adult-woman
#11
Rym Belaid, Hsan Zouaoui, Meriem Yazidi, Ibtissem Oueslati, Wafa Grira, Fatma Chaker, Melika Chihaoui
No abstract text is available yet for this article.
November 19, 2018: Clinical Dysmorphology
https://read.qxmd.com/read/30451703/expanding-the-phenotype-in-autosomal-dominant-mental-retardation-24-a-novel-variation-in-deaf1-gene
#12
Pankaj Sharma, Poonam S Gambhir, Shubha R Phadke, Kausik Mandal
No abstract text is available yet for this article.
November 19, 2018: Clinical Dysmorphology
https://read.qxmd.com/read/30433887/lamm-syndrome-two-new-patients-with-a-novel-mutation-in-fgf3-gene-and-additional-clinical-findings
#13
Muserref Basdemirci, Ayse G Zamani, Sevgi Sener, Melek Tassoker, Hayriye Cetmili, Adil Zamani, Demet Aydogdu, Ali Basdemirci, Mahmut S Yildirim
No abstract text is available yet for this article.
November 14, 2018: Clinical Dysmorphology
https://read.qxmd.com/read/30407211/a-mitochondrial-neurogastrointestinal-encephalomyopathy-with-intestinal-pseudo-obstruction-resulted-from-a-novel-splice-site-mutation
#14
Mehmet A Erdogan, Yuksel Seckin, Muhsin M Harputluoglu, Melih Karincaoglu, Murat Aladag, Ali R Caliskan, Yilmaz Bilgic, Oguzhan Yildirim, Yasir F Cagin, Yahya Atayan, Ayse N Cengiz, Cihat Emul, Zeynep Esener, Mehmet F Erbay, Ibrahim Tekedereli
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive disorder characterized by gastrointestinal dysmotility, cachexia, ptosis, peripheral neuropathy and leukoencephalopathy. The diagnosis is often not made until 5-10 years after the onset of symptoms. MNGIE is caused by mutations in thymidine phosphorylase gene TYMP. Here, we present a 19-year-old boy with MNGIE who had a chronic intestinal pseudo-obstruction, and we describe his family history. Genetic analysis revealed a novel homozygous c...
November 6, 2018: Clinical Dysmorphology
https://read.qxmd.com/read/30303820/novel-pathogenic-variants-in-gbe1-causing-fetal-akinesia-deformation-sequence-and-severe-neuromuscular-form-of-glycogen-storage-disease-type-iv
#15
Periyasamy Radhakrishnan, Amita Moirangthem, Shalini S Nayak, Anju Shukla, Mary Mathew, Katta M Girisha
Glycogen storage disease IV (GSD IV), caused by a defect in GBE1, is a clinically heterogeneous disorder. A classical hepatic form and a neuromuscular form have been described. The severe neuromuscular form presents as a fetal akinesia deformation sequence or a congenital subtype. We ascertained three unrelated families with fetuses/neonates who presented with fetal akinesia deformation sequence to our clinic for genetic counseling. We performed a detailed clinical evaluation, exome sequencing, and histopathology examination of two fetuses and two neonates from three unrelated families presenting with these perinatally lethal neuromuscular forms of GSD IV...
October 9, 2018: Clinical Dysmorphology
https://read.qxmd.com/read/30281527/ophthalmic-manifestations-associated-with-rarb-mutations
#16
Nutsuchar Wangtiraumnuay, Sarina Kopinsky, Prashanth Iyer, Jenina Capasso, Rick Whitehead, Adele Schneider, Alex V Levin
No abstract text is available yet for this article.
October 2, 2018: Clinical Dysmorphology
https://read.qxmd.com/read/30113927/mutation-of-pacs1-the-milder-end-of-the-spectrum
#17
Antonio Martinez-Monseny, Mercè Bolasell, Cesar Arjona, Loreto Martorell, Delia Yubero, Judith Arsmtrong, Joan Maynou, Guerau Fernandez, Maria Del Carmen Salgado, Francesc Palau, Mercedes Serrano
No abstract text is available yet for this article.
October 2018: Clinical Dysmorphology
https://read.qxmd.com/read/30080694/extending-the-phenotype-and-an-ecel1-gene-mutation-in-distal-arthrogryposis-type-5d
#18
Archana Rai, Ratna D Puri, Shubha R Phadke
No abstract text is available yet for this article.
October 2018: Clinical Dysmorphology
https://read.qxmd.com/read/29994870/a-case-of-diencephalic-syndrome-presenting-with-isolated-lipodystrophy
#19
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...
October 2018: Clinical Dysmorphology
https://read.qxmd.com/read/29985174/facial-profile-and-additional-features-in-fetuses-with-trisomy-21
#20
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...
October 2018: Clinical Dysmorphology
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