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Hadil Basma, Sara Dbouk, Zeinab Issa
Dubowitz syndrome (DS) is a rare genetic disorder characterized by multiple morphological abnormalities, short stature, and different degrees of mental disability. Endocrinological evaluation should be done for these subjects, as they can suffer from multiple hormonal derangements. We present a case of a 12-year-old Lebanese girl, diagnosed with Dubowitz syndrome, who presented to our clinic for short stature. She had received growth hormones (GHs) and improved her height. More investigations showed the presence of Hashimoto thyroiditis with normal thyroid stimulating hormone, so hormonal follow-up was recommended...
November 2023: Curēus
#2
REVIEW
Dewang B Ghode, Shoyeb Hirani, Sneha Kenjale, Arjun Heda, Sajid Hirani, Roshan Prasad, Mayur Wanjari
Pyoderma gangrenosum (PG) is a challenging cutaneous manifestation associated with Dubowitz syndrome, a rare genetic disorder characterized by multiple congenital anomalies, developmental delay, and distinctive facial features. This review article aims to provide a comprehensive overview of the association between Dubowitz syndrome and pyoderma gangrenosum, emphasizing the clinical presentation, challenges in diagnosis and management, and potential underlying mechanisms. A comprehensive literature search was conducted to gather relevant studies, and inclusion and exclusion criteria were applied to select appropriate articles...
August 2023: Curēus
#3
JOURNAL ARTICLE
Matteo Bevilacqua, Giammarco Granieri, Cristian Fidanzi, Giorgia Salvia, Flavia Manzo Margiotta, Alessandra Michelucci, Marco Romanelli, Valentina Dini
INTRODUCTION: Dubowitz syndrome is a rare genetic disease with only a few cases reported in the literature. It is characterized by growth retardation, microcephaly, facial dysmorphism and higher risk of developing cancer and cardiomyopathies. PG is an autoinflammatory disorder that causes painful ulcers to develop on the skin and has not been previously associated with Dubowitz syndrome. CASE PRESENTATION: The authors report the case of a 50-year-old female with Dubowitz syndrome who developed painful ulcerative lesions...
March 2023: Wounds: a Compendium of Clinical Research and Practice
#4
JOURNAL ARTICLE
Melissa L Finucane, Robin Beckman, Madhumita Ghosh-Dastidar, Tamara Dubowitz, Rebecca L Collins, Wendy Troxel
Black Americans have been disproportionately affected by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2 or COVID-19) pandemic. Since the pandemic's start, we have observed compounded health, social, and economic impacts for communities of color, fueled in part by profound residential segregation in the United States that, for centuries prior to the pandemic, created differences in access to opportunity and resources. Based on a longitudinal cohort of Black residents living in two racially isolated Pittsburgh neighborhoods, we sought to: 1) describe the experiences of behavioral responses to COVID-19 conditions (e...
January 2022: Landscape and Urban Planning
#5
Sahil Agrawal, Arpita Kulshrestha, Deepsekhar Das, Mandeep S Bajaj, Sujeeth Modaboyina
Dubowitz syndrome is a relatively rare genetic and developmental disorder. An eight-year-old female presented with a complaint of drooping in her left eye since birth. She had undergone ptosis surgery two years back. There was a history of delayed speech and delayed dentition. She was of moderate built appropriate to her age. There was microcephaly, sparse hair, flat bridge of the nose with a prominent rounded tip, short stature, low-set ears, and micrognathia with subsequent protrusion of upper two incisors...
July 2021: Curēus
#6
REVIEW
A Micheil Innes, Danielle C Lynch
Now in its 7th edition, Smith's Recognizable Patterns of Human Malformation was first published in 1970. This 1st edition comprised 135 "dysmorphic syndromes of multiple primary defects" and 12 "single syndromic malformations resulting in secondary defects." Of the former, other than a few chromosomal and environmental disorders, most were heritable conditions of then unknown etiology. In 2021, the majority of these conditions are now "solved," a notable exception is Hallermann-Streiff syndrome. The "solved" conditions were typically clinically delineated decades prior to understanding the underlying etiology, which rarely required recent technologies such as exome sequencing (ES) to elucidate...
September 2021: American Journal of Medical Genetics. Part A
#7
JOURNAL ARTICLE
Daphna Landau Prat, Brian J Nguyen, Alanna Strong, William R Katowitz, James A Katowitz
BACKGROUND: To determine the frequency of isolated blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) versus systemic genetic disorders in patients presenting with blepharophimosis. METHODS: Retrospective clinical records review. The records of all patients with blepharophimosis seen in the Division of Ophthalmology at the Children's Hospital of Philadelphia during a 12-year-period (2009-2020) were reviewed for medical history, clinical examination findings and results of genetic analyses...
July 2021: Clinical & Experimental Ophthalmology
#8
JOURNAL ARTICLE
Maria Elisa Amodeo, Elena Inzaghi, Annalisa Deodati, Stefano Cianfarani
BACKGROUND: Dubowitz syndrome (DS) is a complex and rare condition characterized by postnatal growth retardation, microcephaly, short stature, mild developmental delay, facial dysmorphism, skin eruption and bone marrow failure. Though approximately 200 cases have been described so far, no specific genetic analysis, laboratory tests or radiological exams are available to confirm the diagnosis which is still based on clinical and facial features. Although short stature is a major feature of the syndrome, no endocrine alterations have been reported so far and scant data are available about the efficacy and safety of GH treatment in these patients...
May 2021: Molecular Genetics & Genomic Medicine
#9
JOURNAL ARTICLE
David A Dyment, Anne O'Donnell-Luria, Pankaj B Agrawal, Zeynep Coban Akdemir, Kyrieckos A Aleck, Danny Antaki, Hind Al Sharhan, Ping-Yee B Au, Hatip Aydin, Alan H Beggs, Kaya Bilguvar, Eric Boerwinkle, Harrison Brand, Catherine A Brownstein, Steve Buyske, Bernard Chodirker, Jungmin Choi, Albert E Chudley, Carol L Clericuzio, Gerald F Cox, Cynthia Curry, Elke de Boer, Bert B A de Vries, Kathryn Dunn, Cullen M Dutmer, Eleina M England, Jill A Fahrner, Bilgen B Geckinli, Casie A Genetti, Alper Gezdirici, William T Gibson, Joseph G Gleeson, Cheryl R Greenberg, April Hall, Ada Hamosh, Taila Hartley, Shalini N Jhangiani, Ender Karaca, Kristin Kernohan, Julie L Lauzon, M E Suzanne Lewis, R Brian Lowry, Francesc López-Giráldez, Tara C Matise, Jennifer McEvoy-Venneri, Brenda McInnes, Aziz Mhanni, Sixto Garcia Minaur, Jukka Moilanen, An Nguyen, Malgorzata J M Nowaczyk, Jennifer E Posey, Katrin Õunap, Davut Pehlivan, Sander Pajusalu, Lynette S Penney, Timothy Poterba, Paolo Prontera, Maria Juliana Rodovalho Doriqui, Sarah L Sawyer, Nara Sobreira, Valentina Stanley, Deniz Torun, David Wargowski, P Dane Witmer, Isaac Wong, Jinchuan Xing, Maha S Zaki, Yeting Zhang, Kym M Boycott, Michael J Bamshad, Deborah A Nickerson, Elizabeth E Blue, A Micheil Innes
Dubowitz syndrome (DubS) is considered a recognizable syndrome characterized by a distinctive facial appearance and deficits in growth and development. There have been over 200 individuals reported with Dubowitz or a "Dubowitz-like" condition, although no single gene has been implicated as responsible for its cause. We have performed exome (ES) or genome sequencing (GS) for 31 individuals clinically diagnosed with DubS. After genome-wide sequencing, rare variant filtering and computational and Mendelian genomic analyses, a presumptive molecular diagnosis was made in 13/27 (48%) families...
January 2021: American Journal of Medical Genetics. Part A
#10
JOURNAL ARTICLE
Fangfang Wang, Ningning Xie, Jue Zhou, Minchen Dai, Qing Zhang, Paul J Hardiman, Fan Qu
BACKGROUND: This study explored the mechanisms underlying altered neurobehavioural development of female offspring born to mothers with polycystic ovary syndrome (PCOS). METHODS: In total, 20 women with PCOS and 32 healthy women who underwent caesarean deliveries with a single female foetus were recruited. Infants were assessed with Dubowitz scoring. Swan71 cell line with stable FOS overexpression was used to verify the regulatory effects of FOS on brain-derived neurotrophic factor (BDNF) and nerve growth factor (NGF) expression...
September 16, 2020: EBioMedicine
#11
Abteen Mostofi, Nihal T Gurusinghe
Cerebral cavernous malformations (CCMs) are proliferative sinusoidal vascular lesions and are the most common vascular malformations of the brain. They can occur sporadically or secondary to an underlying genetic predisposition where multiple lesions are commonly seen. Dubowitz syndrome is a clinically-diagnosed rare genetic disorder with an unknown molecular basis. An association between these conditions has not been reported previously. A 30-year-old woman with a Dubowitz-like syndrome presented with acute left leg weakness, gait ataxia and transient loss of consciousness...
March 2020: Journal of Cerebrovascular and Endovascular Neurosurgery
#12
COMMENT
Michael Beer, Fritz Fiedler
No abstract text is available yet for this article.
August 2019: European Journal of Anaesthesiology
#13
JOURNAL ARTICLE
Kym M Boycott, David A Dyment, A Micheil Innes
Due to the efforts of the clinical and scientific communities and boosted by recent advances in genetic technologies, we now understand the molecular mechanisms underlying most of the frequent and recognizable human malformation syndromes. However, some well-established human malformation syndromes remain without a molecular diagnosis despite intensive investigation. This issue of Seminars mines the phenotypic entries in OMIM and estimates that of the documented 2,034 unsolved entries likely to represent a rare genetic disease, only 160 are well-established and possibly amenable to investigation...
December 2018: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
#14
JOURNAL ARTICLE
A Micheil Innes, Brenda L McInnes, David A Dyment
Dubowitz syndrome was described in 1965 as a recognizable syndrome characterized by microcephaly, short stature, eczema, mild developmental delays, and an increased risk of malignancy. Since its original description, there have been over 200 reported cases though no single gene has been identified to explain a significant proportion of affected individuals. Since the last definitive review of Dubowitz syndrome in 1996, there have been 63 individuals with a clinical, or suspected, diagnosis of Dubowitz syndrome reported in 51 publications...
December 2018: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
#15
REVIEW
Abdulhadi Jfri, Ali Alajmi
BACKGROUND: Keloids are benign fibroproliferative tumors that extend beyond the original wound. Spontaneous keloids are those that result without a significant history of trauma. There are multiple reported cases in the literature. OBJECTIVE: This article provides a summary and review of the cases that have been reported with spontaneous keloids and organizes them according to their associated medical conditions. METHODS: A literature review was conducted using PubMed and MEDLINE that included all English published cases and case series from May 1955 to February 2018...
2018: Dermatology: International Journal for Clinical and Investigative Dermatology
#16
JOURNAL ARTICLE
Miroslava Hancarova, Marcela Malikova, Michaela Kotrova, Jana Drabova, Marie Trkova, Zdenek Sedlacek
Microdeletions of 17q24.2-q24.3 have been described in several patients with developmental and speech delay, growth retardation, and other features. The relatively large size and limited overlap of the deletions complicate the genotype-phenotype correlation. We identified a girl with intellectual disability, growth retardation, dysmorphic features, and a de novo 2.8 Mb long deletion of 17q24.2-q24.3. Her phenotype was strikingly similar to one previously described boy with Dubowitz syndrome (MIM 223370) and a de novo 3...
June 2018: American Journal of Medical Genetics. Part A
#17
JOURNAL ARTICLE
Kaylee Park, Laurie E Seltzer, Emily Tuttle, Ghayda M Mirzaa, Alex R Paciorkowski
Developmental encephalopathies constitute a broad and genetically heterogeneous spectrum of disorders associated with global developmental delay, intellectual disability, frequent epilepsy, and other neurofunctional abnormalities. Here, we report a male presenting with infantile onset epilepsy and syndromic features resembling Dubowitz syndrome identified to have a de novo PLXNA1 variant by whole exome sequencing. This constitutes the second report of PLXNA1 sequence variation associated with early onset epilepsy, and the first to expand on the clinical features of this emerging disorder...
July 2017: American Journal of Medical Genetics. Part A
#18
JOURNAL ARTICLE
Ariana Kariminejad, Norbert Fonya Ajeawung, Bita Bozorgmehr, Alexandre Dionne-Laporte, Sirinart Molidperee, Kimia Najafi, Richard A Gibbs, Brendan H Lee, Raoul C Hennekam, Philippe M Campeau
Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial morphology, low cholesterol levels and intellectual disability. We describe a child with microcephaly, brachycephaly, hearing loss, ptosis, blepharophimosis, hypertelorism, cleft palate, multiple renal cysts, absent nails, small or absent terminal phalanges, absent speech and intellectual disability. Syndromes that were initially considered include DOORS syndrome, Coffin-Siris syndrome and Dubowitz syndrome...
April 2017: Journal of Human Genetics
#19
JOURNAL ARTICLE
Amanda J Walne, Laura Collopy, Shirleny Cardoso, Alicia Ellison, Vincent Plagnol, Canan Albayrak, Davut Albayrak, Sara Sebnem Kilic, Turkan Patıroglu, Haluk Akar, Keith Godfrey, Tina Carter, Makia Marafie, Ajay Vora, Mikael Sundin, Thomas Vulliamy, Hemanth Tummala, Inderjeet Dokal
Dyskeratosis congenita is a highly pleotropic genetic disorder. This heterogeneity can lead to difficulties in making an accurate diagnosis and delays in appropriate management. The aim of this study was to determine the underlying genetic basis in patients presenting with features of dyskeratosis congenita and who were negative for mutations in the classical dyskeratosis congenita genes. By whole exome and targeted sequencing, we identified biallelic variants in genes that are not associated with dyskeratosis congenita in 17 individuals from 12 families...
October 2016: Haematologica
#20
JOURNAL ARTICLE
Jill E Urquhart, Simon G Williams, Sanjeev S Bhaskar, Naomi Bowers, Jill Clayton-Smith, William G Newman
Dubowitz syndrome is a presumed autosomal recessive disorder characterized by multiple congenital abnormalities: microcephaly, learning and developmental delay, growth failure, and a predisposition to allergies and eczema. There have been more than 150 individuals reported to have this diagnosis, but no unifying genetic alteration has been identified indicating genetic heterogeneity. We report on a pair of monozygotic twins diagnosed clinically with Dubowitz syndrome by Professor Dubowitz over 30 years ago and identified to have a de novo heterozygous 3...
December 2015: Journal of Human Genetics
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