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Polydactyly

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https://www.readbyqxmd.com/read/27922091/an-increased-duplication-of-zrs-region-that-caused-more-than-one-supernumerary-digits-preaxial-polydactyly-in-a-large-chinese-family
#1
Bin Wang, Yutao Diao, Qiji Liu, Hongqiang An, Ruiping Ma, Guosheng Jiang, Nannan Lai, Ziwei Li, Xiaoxiao Zhu, Lin Zhao, Qiang Guo, Zhen Zhang, Rong Sun, Xia Li
Preaxial polydactyly (PPD) is inherited in an autosomal dominant fashion and characterized by the presence of one or more supernumerary digits on the thumb side. It had been identified that point mutation or genomic duplications of the long-range limb-specific cis-regulator - zone of polarizing activity regulatory sequence (ZRS) cause PPD or other limb deformities such as syndactyly type IV (SD4) and Triphalangeal thumb-polysyndactyly syndrome (TPTPS). Most previously reported cases involved with no more than one extra finger; however, the role of the point mutation or genomic duplications of ZRS in the case of more than one redundant finger polydactyly remains unclear...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27910230/an-unusual-presentation-of-postaxial-polydactyly-of-the-foot
#2
Daniel López-López, Ricardo Becerro-de-Bengoa-Vallejo, Marta Elena Losa-Iglesias, Adolfo Laureano Bautista Casasnovas
A 6-month-old Caucasian baby is described with a postaxial polydactyly of the letf foot. Radiographic examination revealed the accessory digit was composed of soft tissue, some with a tiny osseous element, originated from around the metatarsophalangeal joint, defined by floating type (FT). The parents had consistent difficulty putting shoes. We encountered an exceedingly rare presentation of FT, to our inspection, had neither been previously related in published studies. To the best of our knowledge, this represents the unusual case of congenital deformity lesion on the left foot to be reported in the medical literature...
December 2, 2016: International Wound Journal
https://www.readbyqxmd.com/read/27895541/the-duplicated-thumb-a-review
#3
REVIEW
Renae D Van Wyhe, Jeffrey G Trost, John C Koshy, William C Pederson
Preaxial polydactyly is a common, often sporadic, congenital anomaly that must be addressed surgically early in life. Ideally, the surgeon seeks to accomplish three goals: construction of a thumb that is adequate in size, preservation of pinch function, and reconstruction of all components in one procedure. Although each case is unique, several classification systems attempt to describe the various types. In this article, the authors discuss the various classification systems, procedures, and outcomes after surgery for pediatric thumb duplication...
November 2016: Seminars in Plastic Surgery
https://www.readbyqxmd.com/read/27885298/klippel-trenaunay-syndrome-a-case-report
#4
R K Sah, S Sharma, S Ghimire, B B Bagale, M Kayastha, R H Chapagain
Klippel-Trenaunaysyndrome(KTS) is a rare congenital condition usually presenting with port wine stains, excessive growth of bones and soft tissue and varicose veins which most commonly occurs in the legs, but it also may affect the arms, face, head, or internal organs. We report a case of term male neonate with clinical findings of Port-wine stain, multiple cystic swellings with ultrasonographic findings suggestive of vascular malformations and limb abnormalities in the form ofsoft tissue hypertrophy of right upper limb, polydactyly of right hand and syndactyly of left hand consistent withKlippel-Trenaunay syndrome...
May 2016: Journal of Nepal Health Research Council
https://www.readbyqxmd.com/read/27874196/prenatal-diagnosis-of-upper-extremity-malformations-with-ultrasonography-diagnostic-features-and-perinatal-outcome
#5
Mehmet Serdar Kutuk, Ozguc Altun, Sadan Tutus, Muhammet Ensar Dogan, Mahmut Tuncay Ozgun, Munis Dundar
OBJECTIVE: The aim of this study was to assess the sonographic (US) characteristics, associated malformations, chromosomal status, and perinatal outcomes of fetuses with an upper extremity malformation (UEM) detected by US examination. METHODS: The data of all patients evaluated in the Department of Obstetrics and Gynecology, Prenatal Diagnosis Unit between 2010 and 2015 were searched for UEM. RESULTS: A total of 51 cases with UEM were detected...
November 22, 2016: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/27874174/compound-heterozygous-mutations-in-the-ift140-gene-cause-opitz-trigonocephaly-c-syndrome-in-a-patient-with-typical-features-of-a-ciliopathy
#6
Christian Peña-Padilla, Christian R Marshall, Susan Walker, Stephen W Scherer, Gerónimo Tavares-Macías, Gladys Razo-Jiménez, Lucina Bobadilla-Morales, Elizabeth Acosta-Fernández, Alfredo Corona-Rivera, Roberto Mendoza-Londono, Jorge Román Corona-Rivera
We report on an infant with Opitz trigonocephaly C syndrome (OTCS), who also had manifestations of ciliopathy, including short ribs (non-asphyxiating), trident acetabular roofs, postaxial polydactyly cone-shaped epiphyses, and dysplasia of the renal, hepatic and pancreatic tissues. To investigate the molecular cause, we used an exome sequencing strategy followed by Sanger sequencing. Two rare variants, both predicted to result in loss of functional protein, were identified in the IFT140 gene; a substitution at the splice donor site of exon 24 (c...
November 22, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27853335/bardet-biedl-syndrome-with-end-stage-renal-disease
#7
Rajendrakumar Parakh, Dhananjaya Matapadi Nairy
Bardet-Biedl syndrome (BBS) is one of the rare autosomal recessive disorders that affect multiple organs of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. We present a case of BBS with features of hypogonadism and features such as marked central obesity, retinitis pigmentosa, polydactyly, renal abnormalities and mental retardation, along with a brief review of the literature. The patient had end stage renal disease and managed with dialysis...
November 2016: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/27833294/anterior-urethral-diverticulum-a-rare-presentation
#8
Annavarupu Gopalkrishna, Somendra Mohan Sharma, B Ananda
Congenital anomalies of the urogenital tract are the most common anomalies found in the foetus, neonates and infants, but anterior urethral valves and diverticula are rare. Here, we present a case with congenital anterior urethral diverticulum associated with patent ductus arteriosus and polydactyly.
May 2016: Indian Journal of Plastic Surgery: Official Publication of the Association of Plastic Surgeons of India
https://www.readbyqxmd.com/read/27833283/congenital-hand-anomalies-in-upper-egypt
#9
Tarek Abulezz, Mohamed Talaat, Asem Elsani, Karam Allam
BACKGROUND: Congenital hand anomalies are numerous and markedly variant. Their significance is attributed to the frequent occurrence and their serious social, psychological and functional impacts on patient's life. PATIENTS AND METHODS: This is a follow-up study of 64 patients with hand anomalies of variable severity. All patients were presented to Plastic Surgery Department of Sohag University Hospital in a period of 24 months. RESULTS: This study revealed that failure of differentiation and duplication deformities were the most frequent, with polydactyly was the most common anomaly encountered...
May 2016: Indian Journal of Plastic Surgery: Official Publication of the Association of Plastic Surgeons of India
https://www.readbyqxmd.com/read/27829775/ellis-van-creveld-syndrome-in-siblings-a-rare-case-report
#10
Sabitha Gokulraj, N Mohan, J Babususai Raj, S Yasmeen Ahamed, C J Stephen Arokiaraj, A Cicilia Subbulakshmi
Ellis-Van Creveld syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder presenting several skeletal manifestations and congenital heart malformations. Ellis-Van Creveld syndrome comprises of a tetrad of clinical manifestations of chondrodysplasia, polydactyly, ectodermal dysplasia, and cardiac defects. Here, we are presenting a very rare case of Ellis-Van Creveld syndrome in siblings.
October 2016: Journal of Pharmacy & Bioallied Sciences
https://www.readbyqxmd.com/read/27803525/prenatal-diagnosis-of-short-rib-polydactyly-type-ii-by-ultrasound-in-three-consecutive-pregnancies
#11
Manisha Kumar, Rama Anand, Reenu Jain, S Shukla, Chetna Bhatt
No abstract text is available yet for this article.
October 2016: Journal of Obstetrics and Gynaecology of India
https://www.readbyqxmd.com/read/27801979/preaxial-polydactyly-following-early-gestational-exposure-to-the-smoothened-agonist-sag-in-c57bl-6j-mice
#12
Eric W Fish, Scott E Parnell, Kathleen K Sulik, Lorinda K Baker, Laura B Murdaugh, David Lamson, Kevin P Williams
BACKGROUND: While pharmacological activation of the Hedgehog (HH) signaling pathway may have therapeutic benefits for developmental and adult diseases, its teratogenic potential is of concern. The membrane molecule Smoothened (SMO) transduces HH signaling and can be acutely modulated by antagonists and agonists. The objective of the current experiments was to determine how maternal treatment with the Smo agonist, SAG, affects the developing limb. METHODS: Pregnant C57BL/6J mice received a single injection of SAG (15, 17, or 20 mg/kg, i...
November 1, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27785575/diagnosis-of-joubert-syndrome-via-ultrasonography
#13
Baris Buke, Emre Canverenler, Göksun İpek, Semiha Canverenler, Hatice Akkaya
Joubert syndrome (JS) and related disorders (JSRD) are a group of multiple congenital anomaly syndromes in which the diagnostic hallmark is the molar tooth sign (MTS), a complex midbrain malformation visible on brain imaging. Detection of the MTS should be followed by a diagnostic protocol to assess multi-organ involvement. The incidence of JSRD ranges between 1/80,000 and 1/100,000 live births, although these values may represent an underestimate. The neurological components of JSRD include hypotonia, ataxia, intellectual disability, abnormal eye movements, and neonatal breathing problems...
October 26, 2016: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/27782934/proximal-femoral-focal-deficiency-associated-with-fibular-duplication-and-diplopodia-and-complete-agenesis-of-the-tibia-a-case-report
#14
Vivek S Chawathe, Anil K Gaur, Badrinath D Athani, Shefali Gupta
A 14-year-old boy reported with congenital deformity of the left lower limb, with gross shortening, hip and knee flexion deformities, ankle with equinus deformity, and polydactyly of the left foot. Radiologic examination showed proximal femoral focal deficiency, double fibula, and duplication of the tarsal bones, and a diagnosis of 'proximal femoral focal deficiency associated with fibular duplication and diplopodia with complete agenesis of tibia' was made. Such association of deformities is very rare and poses difficulties in rehabilitation of the case...
October 25, 2016: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/27775296/-preaxial-polydactyly-of-the-hand-15-years-of-experience
#15
Y D Pacheco, C Lorca-García, B Berenguer, E De Tomás
INTRODUCTION: Preaxial polydactyly is one of the most common congenital malformations of the hand. The treatment is surgical and should be done early, between 6 and 12 months old. The purpose of this paper is to review our experience in terms of casuistry, treatment and functional and aesthetic results of duplicity of thumb, since 2000 until today. MATERIAL AND METHODS: A retrospective study of patients with diagnosis of preaxial polydactyly from 2000 to january 2016 was performed...
October 10, 2015: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/27734896/3disease-browser-a-web-server-for-integrating-3d-genome-and-disease-associated-chromosome-rearrangement-data
#16
Ruifeng Li, Yifang Liu, Tingting Li, Cheng Li
Chromosomal rearrangement (CR) events have been implicated in many tumor and non-tumor human diseases. CR events lead to their associated diseases by disrupting gene and protein structures. Also, they can lead to diseases through changes in chromosomal 3D structure and gene expression. In this study, we search for CR-associated diseases potentially caused by chromosomal 3D structure alteration by integrating Hi-C and ChIP-seq data. Our algorithm rediscovers experimentally verified disease-associated CRs (polydactyly diseases) that alter gene expression by disrupting chromosome 3D structure...
October 13, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27727328/targeting-of-the-plzf-gene-in-the-rat-by-transcription-activator-like-effector-nuclease-results-in-caudal-regression-syndrome-in-spontaneously-hypertensive-rats
#17
František Liška, Renata Peterková, Miroslav Peterka, Vladimír Landa, Václav Zídek, Petr Mlejnek, Jan Šilhavý, Miroslava Šimáková, Vladimír Křen, Colby G Starker, Daniel F Voytas, Zsuzsanna Izsvák, Michal Pravenec
Recently, it has been found that spontaneous mutation Lx (polydactyly-luxate syndrome) in the rat is determined by deletion of a conserved intronic sequence of the Plzf (Promyelocytic leukemia zinc finger protein) gene. In addition, Plzf is a prominent candidate gene for quantitative trait loci (QTLs) associated with cardiac hypertrophy and fibrosis in the spontaneously hypertensive rat (SHR). In the current study, we tested the effects of Plzf gene targeting in the SHR using TALENs (transcription activator-like effector nucleases)...
2016: PloS One
https://www.readbyqxmd.com/read/27706137/evolution-of-hoxa11-regulation-in-vertebrates-is-linked-to-the-pentadactyl-state
#18
Yacine Kherdjemil, Robert L Lalonde, Rushikesh Sheth, Annie Dumouchel, Gemma de Martino, Kyriel M Pineault, Deneen M Wellik, H Scott Stadler, Marie-Andrée Akimenko, Marie Kmita
The fin-to-limb transition represents one of the major vertebrate morphological innovations associated with the transition from aquatic to terrestrial life and is an attractive model for gaining insights into the mechanisms of morphological diversity between species. One of the characteristic features of limbs is the presence of digits at their extremities. Although most tetrapods have limbs with five digits (pentadactyl limbs), palaeontological data indicate that digits emerged in lobed fins of early tetrapods, which were polydactylous...
October 5, 2016: Nature
https://www.readbyqxmd.com/read/27666822/destabilization-of-the-ift-b-cilia-core-complex-due-to-mutations-in-ift81-causes-a-spectrum-of-short-rib-polydactyly-syndrome
#19
Ivan Duran, S Paige Taylor, Wenjuan Zhang, Jorge Martin, Kimberly N Forlenza, Rhonda P Spiro, Deborah A Nickerson, Michael Bamshad, Daniel H Cohn, Deborah Krakow
Short-rib polydactyly syndromes (SRPS) and Asphyxiating thoracic dystrophy (ATD) or Jeune Syndrome are recessively inherited skeletal ciliopathies characterized by profound skeletal abnormalities and are frequently associated with polydactyly and multiorgan system involvement. SRPS are produced by mutations in genes that participate in the formation and function of primary cilia and usually result from disruption of retrograde intraflagellar (IFT) transport of the cilium. Herein we describe a new spectrum of SRPS caused by mutations in the gene IFT81, a key component of the IFT-B complex essential for anterograde transport...
September 26, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27659767/risk-factors-for-severe-renal-disease-in-bardet-biedl-syndrome
#20
Elizabeth Forsythe, Kathryn Sparks, Sunayna Best, Sarah Borrows, Bethan Hoskins, Ataf Sabir, Timothy Barrett, Denise Williams, Shehla Mohammed, David Goldsmith, David V Milford, Detlef Bockenhauer, Lukas Foggensteiner, Philip L Beales
Bardet-Biedl syndrome is a rare autosomal recessive, multisystem disease characterized by retinal dystrophy, renal malformation, obesity, intellectual disability, polydactyly, and hypogonadism. Nineteen disease-causing genes (BBS1-19) have been identified, of which mutations in BBS1 are most common in North America and Europe. A hallmark of the disease, renal malformation is heterogeneous and is a cause of morbidity and mortality through the development of CKD. We studied the prevalence and severity of CKD in 350 patients with Bardet-Biedl syndrome-related renal disease attending the United Kingdom national Bardet-Biedl syndrome clinics to further elucidate the phenotype and identify risk indicators of CKD...
September 22, 2016: Journal of the American Society of Nephrology: JASN
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