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Polydactyly

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https://www.readbyqxmd.com/read/28815892/preaxial-polydactyly-in-an-individual-with-wiedemann-steiner-syndrome-caused-by-a-novel-nonsense-mutation-in-kmt2a
#1
Takashi Enokizono, Tatsuyuki Ohto, Ryuta Tanaka, Mai Tanaka, Hisato Suzuki, Aiko Sakai, Kazuo Imagawa, Hiroko Fukushima, Atsushi Iwabuti, Takashi Fukushima, Ryo Sumazaki, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki
Wiedemann-Steiner syndrome (WDSTS) is an autosomal dominant disorder characterized by hypertrichosis, intellectual disability, and dysmorphic facial appearances (down-slanted vertically narrow palpebral fissures, wide nasal bridge, broad nasal tip, and thick eyebrows). In 2012, Jones and co-workers identified heterozygous mutations in KMT2A (lysine methyltransferase 2A) as the molecular cause of WDSTS. Although the phenotype of this syndrome continues to expand, the associated features are not fully understood...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28812468/the-first-reported-case-of-meckel-gruber-syndrome-associated-with-abnormal-karyotype-mosaic-trisomy-17
#2
Zuzana Cierna, Pavol Janega, Frantisek Grochal, Vladimir Ferianec, Tatiana Braxatorisova, Lucia Strieskova, Jana Malova, Petra Jungova, Tomas Szemes
Meckel-Gruber syndrome (MKS) is a rare lethal autosomal recessive disorder with typical anomalies including encephalocele, multicystic renal dysplasia, congenital liver fibrosis, and polydactyly. MKS is caused by mutations of genes localized on different chromosomes. Karyotypes of published Meckel-Gruber syndrome cases are without any aberrations. We present a male fetus with meningoencephalocele, multicystic renal dysplasia, congenital liver fibrosis, and other anomalies. Standard cytogenetic examination of cultured fetal skin and muscle fibroblasts showed mosaic trisomy 17...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28808579/a-novel-bbs10-mutation-identified-in-a-patient-with-bardet-biedl-syndrome-with-a-violent-emotional-outbreak
#3
Tatsuyuki Ohto, Takashi Enokizono, Ryuta Tanaka, Mai Tanaka, Hisato Suzuki, Aiko Sakai, Kazuo Imagawa, Hiroko Fukushima, Takashi Fukushima, Ryo Sumazaki, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki
We report a 10-year-old girl with Bardet-Biedl syndrome caused by a novel mutation in the Bardet-Biedl syndrome 10 (BBS10) gene. She had multiple malformations, including a dysmorphic face, postaxial polydactyly, polycystic kidney and amblyopia. She presented with typical BBS features, including intellectual disability with emotional outbursts and mild obesity. Whole-exome sequencing identified compound heterozygous mutations with NM_024685.3:c.1677C>A [p.(Tyr559*)] and c.1974T>G [p.(Tyr658*)]. To our knowledge, the latter mutation has never been reported previously...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28794915/occurrence-of-synpolydactyly-and-omphalocele-in-a-fetus-with-a-hoxd13-mutation
#4
Periyasamy Radhakrishnan, Shalini S Nayak, Muralidhar V Pai, Anju Shukla, Katta M Girisha
Synpolydactyly (SPD) is an autosomal dominant congenital limb disorder due to mutations in HOXD13 . It is a phenotypically heterogeneous condition characterized by syndactyly of the third finger (F3), fourth finger (F4) and/or fourth toe (T4), and fifth toe (T5) with variably associated polydactyly. We report on a mother and fetus with SPD. The mother has a novel mutation (c.708_708delC) in the HOXD13 gene that was also seen in the fetus. However, the fetus had congenital omphalocele in addition to SPD that is an association not reported to date...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28713709/high-quality-of-infant-chondrocytes-in-comparison-with-adult-chondrocytes-for-cartilage-tissue-engineering
#5
Fatemeh Mortazavi, Hajar Shafaei, Jafar Soleimani Rad, Leila Rushangar, Azadeh Montaceri, Masoud Jamshidi
BACKGROUND: Tissue engineering is used for the treatment of many diseases, and the ideal cell source for cartilage tissue engineering is chondrocytes. The main limitation of chondrocyte is the low number of cells in cartilage tissue engineering. This study investigated a suitable cell source with high proliferation rate to obtain a large number of chondrocytes. METHODS: Adult cartilage tissue samples were obtained from adult patients undergoing surgical procedure, and infant cartilage tissue samples were obtained from polydactyly surgical waste...
May 2017: World Journal of Plastic Surgery
https://www.readbyqxmd.com/read/28711741/confirmation-that-mutations-in-ddx59-cause-an-autosomal-recessive-form-of-oral-facial-digital-syndrome-further-delineation-of-the-ddx59-phenotype-in-two-new-families
#6
Sara Faily, Rahat Perveen, Jill Urquhart, Kate Chandler, Jill Clayton-Smith
We report three probands from two unrelated consanguineous families of South Asian origin who all carry the same rare novel homozygous variant within the dead box helicase gene DDX59 in association with features of oral-facial-digital syndrome (OFDS). DDX59 variants have been reported previously in an unclassified, autosomal recessive form of OFDS; clinically associated with features including tongue lobulation, cleft palate, frontal bossing, hypertelorism and postaxial polydactyly. All three probands had lobulated tongues with tongue hamartomas, abnormal tongue tip, developmental delay and microcephaly, with just one proband demonstrating polydactlyly...
July 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28710291/two-types-of-etiological-mutation-in-the-limb-specific-enhancer-of-shh
#7
Takanori Amano, Tomoko Sagai, Ryohei Seki, Toshihiko Shiroishi
An enhancer named MFCS1 regulates Sonic hedgehog (Shh) expression in the posterior mesenchyme of limb buds. Several mutations in MFCS1 induce ectopic Shh expression in the anterior limb bud, and these result in preaxial polydactyly (PPD). However, the molecular basis of ectopic Shh expression remains elusive, although some mutations are known to disrupt the negative regulation of Shh expression in the anterior limb bud. Here, we analyzed the molecular mechanism of ectopic Shh expression in PPD including in a mouse mutation-hemimelic extra toes (Hx)-and in other MFCS1 mutations in different species...
July 14, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28708295/cd13-is-a-marker-for-onychofibroblasts-within-nail-matrix-onychodermis-comparison-of-its-expression-patterns-in-the-nail-unit-and-in-the-hair-follicle
#8
Ji-Hye Park, Dong-Youn Lee, Kee-Taek Jang, Sang-Yun Ha, Ghee Young Kwon, Kyung-Hoon Lee, Jong Sup Shim, Eun Ji Kwon
BACKGROUND: We previously demonstrated the presence of onychodermis, a specialized mesenchymal cell population beneath the the nail matrix and proximal nail bed demonstrating CD10 expression. We hypothesize that the onychodermis could be the nail analog of the follicular dermal papilla, which is known to express CD13. We compare CD13 expression patterns between specialized mesenchymes of nail and hair, and compare these findings with CD10 expression patterns. METHODS: CD10 and CD13 immunohistochemisty was performed on polydactyly and adult cadaveric nail units, and on hair follicles in scalp nevus sebaceus excision specimens...
July 14, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28694400/-co-occurrence-of-carpenter-syndrome-and-double-outlet-right-ventricle
#9
Osman Güvenç, Derya Çimen, Derya Arslan, İbrahim Güler
Carpenter syndrome (Acrocephalopolysyndactyly type 2, OMIM 201000) is a rarely seen autosomal recessive disorder. In addition to abnormalities such as acrocephaly, craniosynostosis, facial asymmetry, polydactyly and syndactyly, obesity, hypogonadism, mental retardation, and corneal opacity, it may frequently be accompanied by congenital heart diseases such as ventricular septal defect, patent ductus arteriosus and pulmonary stenosis. Double outlet right ventricle is a defect in which both major arteries originate in the morphological right ventricle...
July 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28690477/identity-by-descent-refines-mapping-of-candidate-regions-for-preaxial-polydactyly-ii-iii-in-a-large-chinese-pedigree
#10
Xingyan Yang, Quankuan Shen, Xierzhatijiang Sulaiman, Hequn Liu, Minsheng Peng, Yaping Zhang
Preaxial polydactyly (PPD) is congenital hand malformation characterized by the duplication of digit. Herein, we scan the genome-wide SNPs for a large Chinese family with PPD-II/III. We employ the refined IBD algorithm to identify the identity-by-decent (IBD) segments and compare the frequency among the patients and normal relatives. A total of 72 markers of 0.01 percentile of the permutation are identified as the peak signals. Among of them, 57markers locate on chromosome 7q36 which is associated with PPD...
2018: Hereditas
https://www.readbyqxmd.com/read/28688895/differential-requirement-of-sufu-in-tissue-development-discovered-in-a-hypomorphic-mouse-model
#11
Maria A Hoelzl, Karin Heby-Henricson, Marco Gerling, José M Dias, Raoul V Kuiper, Cornelius Trünkle, Åsa Bergström, Johan Ericson, Rune Toftgård, Stephan Teglund
Suppressor of Fused (SUFU) is an essential negative regulator of the Hedgehog (HH) pathway and involved in GLI transcription factor regulation. Due to early embryonic lethality of Sufu(-/-) mice, investigations of SUFU's role later in development are limited to conditional, tissue-specific knockout models. In this study we developed a mouse model (Sufu(Ex456(fl)/Ex456(fl))) with hypomorphic features where embryos were viable up to E18.5, although with a spectrum of developmental defects of varying severity, including polydactyly, exencephaly and omphalocele...
September 1, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28669962/-effects-of-different-doses-of-dexmedetomidine-combined-with-ropivacaine-for-brachial-plexus-nerve-block-in-children-undergoing-polydactyly-surgery
#12
Shi-Hui Yang, Wei-Guo Sun, Yong-le Li, Xiang-Nan Chen, Dong-Mei Qi, Yi-Juan Sun
OBJECTIVE: To observe the anesthetic effect and safety of different doses of dexmedetomidine combined with ropivacaine for brachial plexus nerve block in children undergoing polydactyly surgery. METHODS: Eighty children undergoing polydactyly surgery were randomized into 4 groups to receive brachial plexus nerve block with dexmedetomidine at 0.25, 0.50 or 0.75 µg/kg combined with 0.25% ropivacaine (0.20 mL/kg) (D1, D2, and D3 groups, respectively) or with 0.25% ropivacaine (0...
June 20, 2017: Nan Fang Yi Ke da Xue Xue Bao, Journal of Southern Medical University
https://www.readbyqxmd.com/read/28669530/-on-top-plasty-for-radial-polydactyly%C3%A2-reconstruction
#13
Bryce Bell, Lesley Butler, Janith Mills, Chris Stutz, Marybeth Ezaki, Scott Oishi
PURPOSE: To introduce the "on-top plasty" technique and report our long-term outcomes. METHODS: We evaluated 5 thumbs in 5 patients who underwent radial polydactyly reconstruction using the "on-top plasty" technique between 1998 and 2003. This technique was used when it was felt that neither thumb possessed adequate proximal and distal structures to provide a functional and aesthetically pleasing thumb. Our study group included 1 Flatt type III and 4 Flatt type VII thumbs...
June 29, 2017: Journal of Hand Surgery
https://www.readbyqxmd.com/read/28663160/a-mutation-in-insr-in-a-child-presenting-with-severe-acanthosis-nigricans
#14
Hale Tuhan, Serdar Ceylaner, Özlem Nalbantoğlu, Sezer Acar, Ayhan Abacı, Ece Böber, Korcan Demir
Rabson Mendenhall Syndrome (RMS) is an autosomal recessive disorder due to the mutations in insulin receptor gene (INSR), which is mapped to 19p13.2. RMS is characterized by acanthosis nigricans, generalized lanugo, tooth and nail dysplasia, high nasal bridge and growth retardation. A 5-year-old female patient was referred due to acanthosis nigricans and generalized lanugo. On her physical examination, severe acanthosis nigricans of the neck, axillae, the external genitalia and antecubital regions, generalized lanugo, mildly decreased subcutaneous fat, dysmorphic facial features, and polydactyly on her left arm were noted...
June 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28648327/incidence-of-acute-complications-following-surgery%C3%A2-for-syndactyly-and-polydactyly-an-analysis-of-the-national-surgical-quality-improvement-program-database-from-2012-to-2014
#15
Thomas J McQuillan, Jessica E Hawkins, Amy L Ladd
PURPOSE: Congenital hand differences are infrequent phenomena, and their treatment represents a relatively small fraction of cases performed by hand surgeons. Little is known about the incidence of wound complications and acute postoperative problems given the relative rarity of these procedures. This study sought to characterize the incidence of complications within 30 days of surgery for congenital hand differences. METHODS: The National Surgical Quality Improvement Program (NSQIP) contains prospective data regarding 30-day morbidity from 64 pediatric centers across the United States...
June 22, 2017: Journal of Hand Surgery
https://www.readbyqxmd.com/read/28625504/mutations-in-armc9-which-encodes-a-basal-body-protein-cause-joubert-syndrome-in-humans-and-ciliopathy-phenotypes-in-zebrafish
#16
Julie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, Megan E Grout, Kimberly A Aldinger, Ranad Shaheen, Jennifer C Dempsey, Sateesh Maddirevula, Yong-Han H Cheng, Ian G Phelps, Matthias Gesemann, Himanshu Goel, Ohad S Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O Khan, Michael J Bamshad, Deborah A Nickerson, Stephan C F Neuhauss, William B Dobyns, Fowzan S Alkuraya, Ronald Roepman, Ruxandra Bachmann-Gagescu, Dan Doherty
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as the "molar tooth sign" on axial MRI. Subsets of affected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as progressive retinal dystrophy, fibrocystic kidney disease, and liver fibrosis. More than 35 genes have been associated with JS, but in a subset of families the genetic cause remains unknown...
July 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28624958/whole-exome-sequencing-identified-compound-heterozygous-variants-in-mmks-in-a-chinese-pedigree-with-bardet-biedl-syndrome
#17
Zhan Qi, Ying Shen, Qian Fu, Wei Li, Wei Yang, Wenshan Xu, Ping Chu, Yaxin Zhang, Hui Wang
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by retinal dystrophy, polydactyly, obesity, developmental delay, and renal defects. At least 21 candidate BBS-associated genes (BBS1-19, NPHP1, and IFT172) have previously been identified, and all of them play important roles in ciliary function. Here, we collected a BBS pedigree with four members and performed whole-exome sequencing on the proband. The variants were analyzed and evaluated to confirm their pathogenicity. We found compound heterozygous variants (c...
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28620746/uniparental-disomy-as-an-unexpected-cause-of-meckel-gruber-syndrome-report-of-a-case
#18
Nadia Ortiz Bruechle, Peter Steuernagel, Klaus Zerres, Ingo Kurth, Thomas Eggermann, Cordula Knopp
BACKGROUND: Meckel-Gruber syndrome (MKS, OMIM #607361) is a rare pre- or perinatal lethal autosomal recessive ciliopathy caused by mutations in at least 12 known genes. It has a clinical and genetic overlap with other viable ciliopathies, especially Joubert syndrome and Joubert syndrome-related disorders. MKS is characterized by multicystic kidney dysplasia, central nervous system malformations (usually occipital encephalocele), ductal plate malformation of the liver, and postaxial polydactyly...
June 15, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28599099/clinical-and-molecular-genetic-characterization-of-two-siblings-with-trisomy-2p24-3-pter-and-monosomy-5p14-3-pter
#19
Daisuke Fukushi, Kenji Kurosawa, Yasuyo Suzuki, Kaoru Suzuki, Kenichiro Yamada, Seiji Watanabe, Kenji Yokochi, Nobuaki Wakamatsu
Partial trisomy 2p syndrome is occasionally associated with neural tube defects (NTDs), such as anencephaly, encephalocele, and spina bifida, in addition to common features of intellectual disability, developmental delay, and characteristic facial appearance. The 2p24 region has been reported to be associated with NTDs. Here, we report the cases of 2 siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter caused by the paternal translocation t(2;5)(p24.3;p14.3). Of the two siblings, the elder sister had spina bifida...
August 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28593008/meckel-gruber-syndrome-ultrasonographic-and-fetal-autopsy-correlation
#20
Shruti Khurana, Vikram Saini, Vibhor Wadhwa, Harveen Kaur
Meckel-Gruber syndrome (MGS) is a rare autosomal recessive disorder which is characterized by a classic triad of occipital encephalocele, polycystic kidneys and postaxial polydactyly. We describe a case of classic MGS, diagnosed on ultrasonography and genetic analysis, with subsequent confirmation and correlation by fetal autopsy.
June 2017: Journal of Ultrasound
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