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Syndactyly

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https://www.readbyqxmd.com/read/28694400/-co-occurrence-of-carpenter-syndrome-and-double-outlet-right-ventricle
#1
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/28691455/adult-syndrome-dental-features-of-a-very-rare-condition
#2
L Azzi, V Maurino, R Vinci, F Croveri, A Boggio, A Tagliabue, J Silvestre-Rangil
The Acro-Dermato-Ungual-Lacrimal-Tooth syndrome (ADULT syndrome) is one of the rarest ectodermal dysplasias and it is associated with several malformations involving especially the limbs. The most clinical features are the presence of ectrodactyly, syndactyly, hypermelanosis or multiple lentigines, onhycodysplasia, abnormalities in the lacrimal duct, recurrent conjuntivitis, photophobia, mammarian hypoplasia, hypotrichosis and frontal alopecia, hypohydrosis, cutaneous photosensitivity, nasal bridge prominence, exfoliative dermatitis and xerosis...
April 2017: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/28656168/nail-psoriasis-triggered-by-the-reconstruction-of-syndactyly
#3
Ahmadreza Afshar, Ali Tabrizi
Koebner phenomenon is observed in a number of inflammatory skin diseases. Psoriasis is one of the most common skin diseases associated with Koebner phenomenon. Nail psoriasis may be developed independently from inflammatory arthritis and skin psoriasis. This study reports on the reconstruction of third web of a 30-year-old woman, which performed on her right, due to congenital syndactyly. Four months postoperatively, she developed nail dystrophy, onycholysis and onychorrhexis of the middle, ring and little fingernails...
May 2017: Archives of Bone and Joint Surgery
https://www.readbyqxmd.com/read/28648896/inhibition-of-cdk5-alleviates-the-cardiac-phenotypes-in-timothy-syndrome
#4
LouJin Song, Seon-Hye E Park, Yehuda Isseroff, Kumi Morikawa, Masayuki Yazawa
L-type calcium channel CaV1.2 plays an essential role in cardiac function. The gain-of-function mutations in CaV1.2 have been reported to be associated with Timothy syndrome, a disease characterized by QT prolongation and syndactyly. Previously we demonstrated that roscovitine, a cyclin-dependent kinase (CDK) inhibitor, could rescue the phenotypes in induced pluripotent stem cell-derived cardiomyocytes from Timothy syndrome patients. However, exactly how roscovitine rescued the phenotypes remained unclear. Here we report a mechanism potentially underlying the therapeutic effects of roscovitine on Timothy syndrome cardiomyocytes...
July 11, 2017: Stem Cell Reports
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
#5
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/28644945/complications-and-cost-of-syndactyly-reconstruction-in-the-united-states-analysis-of-the-pediatric-health-information-system
#6
Maria F Canizares, Lanna Feldman, Patricia E Miller, Peter M Waters, Donald S Bae
BACKGROUND: Syndactyly is one of the most common congenital differences of the upper extremity and offers an exceptional opportunity to evaluate value-based care in pediatric orthopedic surgery. We designed a study to characterize complications and cost associated to syndactyly surgery among US pediatric hospitals. METHODS: A total of 2047 patients were identified for syndactyly surgery at 38 pediatric hospitals from 2009 to 2012 using the Pediatric Health Information System (PHIS) database...
July 2017: Hand: Official Journal of the American Association for Hand Surgery
https://www.readbyqxmd.com/read/28620870/severe-growth-deficiency-microcephaly-intellectual-disability-and-characteristic-facial-features-are-due-to-a-homozygous-qars-mutation
#7
Esther Leshinsky-Silver, Jiqiang Ling, Jiang Wu, Chana Vinkler, Keren Yosovich, Sarit Bahar, Miri Yanoov-Sharav, Tally Lerman-Sagie, Dorit Lev
Glutaminyl tRNA synthase is highly expressed in the developing fetal human brain. Mutations in the glutaminyl-tRNA synthetase (QARS) gene have been reported in patients with progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. We have previously reported a new recessive syndrome of severe linear growth retardation, poor weight gain, microcephaly, characteristic facial features, cutaneous syndactyly of the toes, high myopia, and intellectual disability in two sisters of Ashkenazi-Jewish origin (Eur J Med Genet 2014;57(6):288-92)...
July 2017: Neurogenetics
https://www.readbyqxmd.com/read/28600059/molecular-genetic-characterization-of-a-prenatally-detected-de-novo-interstitial-deletion-of-chromosome-2q-2q31-1-q32-1-encompassing-hoxd13-znf385b-and-znf804a-associated-with-syndactyly-and-increased-first-trimester-nuchal-translucency
#8
Chih-Ping Chen, Chen-Ju Lin, Yen-Ni Chen, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Peih-Shan Wu, Li-Feng Chen, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular genetic characterization of a de novo interstitial deletion of 2q (2q31.1-q32.1) and discuss the genotype-phenotype correlation. CASE REPORT: A 34-year-old, primigravid woman was referred to the hospital at 20 weeks of gestation for genetic counseling because of a prenatally detected de novo interstitial deletion of chromosome 2q (2q31.1-q32.1). She underwent amniocentesis at 17 weeks of gestation because of advanced maternal age and an increased first-trimester nuchal translucency (NT) thickness of 3...
June 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28559208/novel-splice-mutation-in-lrp4-causes-severe-type-of-cenani-lenz-syndactyly-syndrome-with-oro-facial-and-skeletal-symptoms
#9
Muhammad Afzal, Qamar Zaman, Uwe Kornak, Stefan Mundlos, Sajid Malik, Ricarda Flöttmann
Cenani-Lenz syndactyly syndrome (CLSS; MIM-212780) is a rare autosomal recessive limb malformation characterized by complete osseous fusion of all fingers and toes, disorganization of phalangeal elements and severe shortening of the radius and ulna. It is occasionally associated with renal hypoplasia, oro-facial defects, scoliosis of the thoracic spine, hearing loss, and genital anomalies. Here we describe a consanguineous Pakistani kindred with a severe form of CLSS characterized by complete syndactyly and disorganization of fingers, oligo-syndactyly of toes, shortening of limbs, frontal bossing, and hypoplasia/agenesis of left kidney...
August 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28558098/complex-and-dynamic-chromosomal-rearrangements-in-a-family-with-seemingly-non-mendelian-inheritance-of-dopa-responsive-dystonia
#10
Katja Lohmann, Claire Redin, Holger Tönnies, Susan B Bressman, Jose Ignacio Martin Subero, Karin Wiegers, Frauke Hinrichs, Yorck Hellenbroich, Aleksandar Rakovic, Deborah Raymond, Laurie J Ozelius, Eberhard Schwinger, Reiner Siebert, Michael E Talkowski, Rachel Saunders-Pullman, Christine Klein
Importance: Chromosomal rearrangements are increasingly recognized to underlie neurologic disorders and are often accompanied by additional clinical signs beyond the gene-specific phenotypic spectrum. Objective: To elucidate the causal genetic variant in a large US family with co-occurrence of dopa-responsive dystonia as well as skeletal and eye abnormalities (ie, ptosis, myopia, and retina detachment). Design, Setting, and Participants: We examined 10 members of a family, including 5 patients with dopa-responsive dystonia and skeletal and/or eye abnormalities, from a US tertiary referral center for neurological diseases using multiple conventional molecular methods, including fluorescence in situ hybridization and array comparative genomic hybridization as well as large-insert whole-genome sequencing to survey multiple classes of genomic variations...
July 1, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28523332/apert-syndrome-clinical-case
#11
Mirela Anişoara Siminel, Cristian Ovidiu NeamŢu, Damian DiŢescu, Mircea Cătălin ForŢofoiu, Alexandru Cristian Comănescu, Marius Bogdan Novac, Simona Daniela NeamŢu, Adrian Gluhovschi
Apert syndrome - acrocephalosyndactyly - is a rare autosomal dominant disorder representing 1:65 000 cases of living newborns. Characteristic malformations of the Apert syndrome are early craniostenosis, microviscerocranium and II-V finger syndactyly of hand and toes with proximal phalanx of the bilateral thumb "in delta". It is difficult to determine prenatal diagnosis in the second quarter, when examining the morphology of fetal signs; the dysmorphism signs appeared in the third pregnancy quarter. We present here the case of a newborn with Apert syndrome that was born prematurely in our Clinic after a monitored pregnancy, where there was issued a suspicion of cranio-facial dysmorphism, malposition and malformation of the feet and hands in the third quarter of prenatal pregnancy...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28515470/a-novel-missense-mutation-in-the-hect-domain-of-nedd4l-identified-in-a-girl-with-periventricular-nodular-heterotopia-polymicrogyria-and-cleft-palate
#12
Koji Kato, Fuyuki Miya, Ikumi Hori, Daisuke Ieda, Kei Ohashi, Yutaka Negishi, Ayako Hattori, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Shinji Saitoh
We identified a novel de novo heterozygous missense mutation in the NEDD4L gene (NM_015277: c.2617G>A; p.Glu873Lys) through whole-exome sequencing in a 3-year-old girl showing severe global developmental delay, infantile spasms, cleft palate, periventricular nodular heterotopia and polymicrogyria. Mutations in the HECT domain of NEDD4L have been reported in patients with a neurodevelopmental disorder along with similar brain malformations. All patients reported with NEDD4L HECT domain mutations showed periventricular nodular heterotopia, and most had seizures, cortex anomalies, cleft palate and syndactyly...
May 18, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28513979/identification-of-a-de-novo-variant-in-chuk-in-a-patient-with-an-eec-aec-syndrome-like-phenotype-and-hypogammaglobulinemia
#13
Kriti D Khandelwal, Charlotte W Ockeloen, Hanka Venselaar, Cécile Boulanger, Bénédicte Brichard, Etienne Sokal, Rolph Pfundt, Tuula Rinne, Ellen van Beusekom, Marjon Bloemen, Gerrit Vriend, Nicole Revencu, Carine E L Carels, Hans van Bokhoven, Huiqing Zhou
The cardinal features of Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate (EEC), and Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndromes are ectodermal dysplasia (ED), orofacial clefting, and limb anomalies. EEC and AEC are caused by heterozygous mutations in the transcription factor p63 encoded by TP63. Here, we report a patient with an EEC/AEC syndrome-like phenotype, including ankyloblepharon, ED, cleft palate, ectrodactyly, syndactyly, additional hypogammaglobulinemia, and growth delay...
May 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28507859/the-double-volar-flap-technique-for-aesthetic-repair-of-syndactyly-and-polysyndactyly-of-toe-without-skin-grafting
#14
Toru Miyanaga, Kenichi Shimada, Miyuki Kishibe, Masanobu Yamashita, Akiko Yamashita
BACKGROUND: Aesthetic repair of syndactyly of the toes is desirable because patients may have psychological concerns about its appearance. There are 2 important factors for the aesthetic repair of syndactyly of the toe. One is to hide the operative scar from the visual site (dorsal site), whereas the other is to create an interdigital space close to the normal anatomical skin characteristics (2 general types of skin: glabrous and hairy). METHODS: In total, 12 patients (4 males and 8 females) with 15 syndactylous webs were operated on by using the double volar flap technique...
April 2017: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/28503313/novel-dhcr7-mutation-in-a-case-of-smith-lemli-opitz-syndrome-showing-46-xy-disorder-of-sex-development
#15
Mayuko Tamura, Tsuyoshi Isojima, Takeshi Kasama, Ryo Mafune, Konomi Shimoda, Hiroki Yasudo, Hiroyuki Tanaka, Chie Takahashi, Akira Oka, Sachiko Kitanaka
Smith-Lemli-Opitz syndrome is an autosomal recessive disease caused by mutations in 7-dehydrocholesterol reductase (DHCR7), which is rarely observed in Japan. We report a Japanese case with 46,XY disorder of sex development and Y-shaped 2-3 toe syndactyly. DHCR7 gene analysis revealed compound heterozygous mutations including the novel mutation H442R. Early diagnosis led to starting cholesterol treatment at an early age.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28501462/ray-resection-in-paediatric-population
#16
S Martínez-Álvarez, A Maldonado-Morillo, I Vara-Patudo, C Martínez-González, C Miranda-Gorozarri
AIM: Evaluation of clinical and functional outcome of ray resection in paediatric population and description of key aspects of surgical technique. MATERIAL AND METHODS: We performed a retrospective review of all patients undergoing surgery between 2010-2015. INCLUSION CRITERIA: one or more ray resections of the hand and a minimum of one year follow-up. Evaluation of clinical characteristics, functional and cosmetic results, complications, need for psychological support and patient or family satisfaction...
May 10, 2017: Revista Española de Cirugía Ortopédica y Traumatología
https://www.readbyqxmd.com/read/28498426/identification-of-a-missense-hoxd13-mutation-in-a-chinese-family-with-syndactyly-type-i-c-using-exome-sequencing
#17
Hao Deng, Ting Tan, Quanyong He, Qiongfen Lin, Zhijian Yang, Anding Zhu, Liping Guan, Jingjing Xiao, Zhi Song, Yi Guo
Syndactyly is one of the most common hereditary limb malformations, and is characterized by the fusion of specific fingers and/or toes. Syndactyly type I‑c is associated with bilateral cutaneous or bony webbing of the third and fourth fingers and occasionally of the third to fifth fingers, with normal feet. The aim of the present study was to identify the genetic basis of syndactyly type I‑c in four generations of a Chinese Han family by exome sequencing. Exome sequencing was conducted in the proband of the family, followed by direct sequencing of other family members of the same ancestry, as well as 100 ethnically‑matched, unrelated normal controls...
July 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28496997/a-new-split-hand-foot-malformation-with-long-bone-deficiency-familial-case
#18
Carmela Fusco, Pasquelena De Nittis, Ali Abdullah Alfaiz, Maria Teresa Pellico, Bartolomeo Augello, Natascia Malerba, Leopoldo Zelante, Alexandre Reymond, Giuseppe Merla
Split hand/foot malformation with long bone deficiency (SHFLD) is a congenital limb anomaly where hands and/or feet cleft and syndactyly are associated with long bone defects, usually involving the tibia. Previously published data reported that 17p13.3 chromosomal duplication, including the BHLHA9 gene, has been associated with the distinct entity, termed SHFLD3 (OMIM 612576), inherited as an autosomal dominant trait. Here, we present a family with three members affected by SHFLD harboring BHLHA9 duplication...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28496510/constrictive-pericarditis-and-primary-amenorrhea-with-syndactyly-in-an-iranian-female-mulibrey-nanism-syndrome
#19
Tahereh Davarpasand, Maryam Sotoudeh Anvari, Mohammad Naderan, Mohammad Ali Boroumand, Hossein Ahmadi
Mulibrey nanism is a rare autosomal recessive syndrome caused by a mutation in the TRIM37 gene with severe growth retardation and multiple organ involvement. Early diagnosis is important because 50% of the patients develop congestive heart failure owing to constrictive pericarditis, and this condition plays a critical role in the final prognosis. A 37-year-old female patient presented with symptoms of dyspnea on exertion and shortness of breath. She had severe growth failure and craniofacial dysmorphic feature...
October 3, 2016: Journal of Tehran Heart Center
https://www.readbyqxmd.com/read/28477420/the-lrp4-r1170q-homozygous-knock-in-mouse-recapitulates-the-bone-phenotype-of-sclerosteosis-in-humans
#20
Eveline Boudin, Timur Yorgan, Igor Fijalkowski, Stephan Sonntag, Ellen Steenackers, Gretl Hendrickx, Silke Peeters, Annelies De Maré, Benjamin Vervaet, Anja Verhulst, Geert Mortier, Patrick D'Haese, Thorsten Schinke, Wim Van Hul
Sclerosteosis is a rare autosomal recessive bone disorder marked by hyperostosis of the skull and tubular bones. Initially, we and others reported that sclerosteosis was caused by loss-of-function mutations in SOST, encoding sclerostin. More recently, we identified disease causing mutations in LRP4, a binding partner of sclerostin, in three Sclerosteosis patients. Upon binding to sclerostin, LRP4 can inhibit the canonical WNT signaling which is known to be an important pathway in the regulation of bone formation...
May 6, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
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