journal
MENU ▼
Read by QxMD icon Read
search

Clinical Dysmorphology

journal
https://www.readbyqxmd.com/read/30433887/lamm-syndrome-two-new-patients-with-a-novel-mutation-in-fgf3-gene-and-additional-clinical-findings
#1
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://www.readbyqxmd.com/read/30407211/a-mitochondrial-neurogastrointestinal-encephalomyopathy-with-intestinal-pseudo-obstruction-resulted-from-a-novel-splice-site-mutation
#2
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://www.readbyqxmd.com/read/30303820/novel-pathogenic-variants-in-gbe1-causing-fetal-akinesia-deformation-sequence-and-severe-neuromuscular-form-of-glycogen-storage-disease-type-iv
#3
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://www.readbyqxmd.com/read/30281527/ophthalmic-manifestations-associated-with-rarb-mutations
#4
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://www.readbyqxmd.com/read/30260844/the-first-report-of-fibular-agenesis-tibial-campomelia-and-oligosyndactyly-syndrome-with-hydrocephaly
#5
Esra Isik, Tahir Atik, Ferda Ozkinay
No abstract text is available yet for this article.
September 26, 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/30256248/novel-de-novo-mutation-in-zbtb20-in-primrose-syndrome-in-boy-with-short-stature
#6
Sigrún Grímsdóttir, Hanne B Hove, Sven Kreiborg, Jakob Ek, Anders Johansen, Tron A Darvann, Nuno V Hermann
No abstract text is available yet for this article.
September 25, 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/30216196/intrafamilial-variability-of-clinical-features-in-distal-arthrogryposis-type-2b
#7
Anna de Burca, Christos Ioannou, Anthony Vandersteen, Francis M Pope, Deirdre D Cilliers
No abstract text is available yet for this article.
September 13, 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/30179896/ube2a-related-x-linked-intellectual-disability
#8
Roger E Stevenson, Albert E Chudley, Anand K Srivastava, Jayson Rodriguez, Michael J Friez, Charles E Schwartz
UBE2A-related X-linked intellectual disability is characterized by a distinctive facial phenotype (dense eyebrows and eyelashes, synophrys, hypertelorism, upslanted palpebral fissures, wide mouth, and thin lips), generalized hirsutism, hypoplastic genitalia, short stature, hypotonia, seizures, and severe intellectual disability. Five affected males in two families are described here and compared with the previously reported 17 males in eight families. The new cases are notable for the absence of nail dystrophy, previously considered a defining manifestation, and for the presence of hypogammaglobulinemia and adult-onset ataxia...
September 1, 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/30138140/congenital-lateral-abdominal-wall-defect-in-two-congolese-children
#9
Gerrye Mubungu, Bertin Kadima, Aimé Lumaka, Gloire Mbayabo, Prosper Lukusa Tshilobo, Koenraad Devriendt
No abstract text is available yet for this article.
August 22, 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/30138139/type-vi-syndactyly-with-skeletal-dysplasia-a-new-syndrome
#10
Erina Sasaki, Ethna Phelan, Clare Brenner, Donal Brosnahan, William Reardon
No abstract text is available yet for this article.
August 22, 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/30113927/mutation-of-pacs1-the-milder-end-of-the-spectrum
#11
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://www.readbyqxmd.com/read/30080694/extending-the-phenotype-and-an-ecel1-gene-mutation-in-distal-arthrogryposis-type-5d
#12
Archana Rai, Ratna D Puri, Shubha R Phadke
No abstract text is available yet for this article.
October 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29994870/a-case-of-diencephalic-syndrome-presenting-with-isolated-lipodystrophy
#13
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://www.readbyqxmd.com/read/29985174/facial-profile-and-additional-features-in-fetuses-with-trisomy-21
#14
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
https://www.readbyqxmd.com/read/29944490/a-rare-mutation-in-the-epg5-gene-causes-vici-syndrome
#15
Emine Demiral, Askin Sen, Zeynep Esener, Serdar Ceylaner, Ibrahim Tekedereli
No abstract text is available yet for this article.
October 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
#16
REVIEW
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...
October 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
#17
Elise Brimble, Michelle Pacione, Ellyn Farrelly, David A Stevenson, Maura R Z Ruzhnikov
No abstract text is available yet for this article.
October 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29912011/familial-impairment-of-vocal-cord-mobility-in-childhood-with-clubfoot
#18
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...
October 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29864040/robinow-syndrome-a-diagnosis-at-the-fingertips
#19
Chaya N Murali, Beth Keena, Elaine H Zackai
No abstract text is available yet for this article.
October 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
#20
Meenakshi Lallar, Priyanka Srivastava, Shubha R Phadke
No abstract text is available yet for this article.
October 2018: Clinical Dysmorphology
journal
journal
31030
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"