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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/27896188/foot-syndactyly-a-clinical-and-demographic-analysis
#2
Jong Ho Kim, Byung Jun Kim, Sung Tack Kwon
BACKGROUND: Syndactyly of the foot is the second most common congenital foot anomaly. In East Asia, however, no large case study has been reported regarding the clinical features of isolated foot syndactyly. In this study, we report a review of 118 patients during the last 25 years. METHODS: We conducted a chart review of patients who underwent surgical correction for foot syndactyly between January 1990 and December 2014. Operations were performed with a dorsal triangular flap and a full-thickness skin graft...
November 2016: Archives of Plastic Surgery
https://www.readbyqxmd.com/read/27895538/syndactyly-release
#3
REVIEW
Tara L Braun, Jeffrey G Trost, William C Pederson
Syndactyly is one of the most common congenital hand anomalies treated by pediatric plastic surgeons. Established principles of syndactyly separation dictate the timing and order of syndactyly release, with the goals of surgery being the creation of an anatomically normal webspace, tension-free closure of soft tissue, and return of function to the fingers. Numerous surgical methods have been described, many of which involve the use of local flaps to reconstruct the commissure and full-thickness skin grafts for coverage of raw areas...
November 2016: Seminars in Plastic Surgery
https://www.readbyqxmd.com/read/27894834/a-podoscopic-and-descriptive-study-of-foot-deformities-in-patients-with-down-syndrome
#4
E Mansour, J J Yaacoub, Z Bakouny, A Assi, I Ghanem
INTRODUCTION: Subjects with Down syndrome (DS) are known to be affected by various foot deformities. Despite the fact that some of these deformities have been reported in the literature, a more comprehensive description would be of benefit. The aim of this study is to investigate the prevalence of known foot deformities in patients with DS and of other previously non-described foot anomalies in this population. HYPOTHESIS: Subjects with DS have an increased prevalence of foot deformities compared to control subjects...
November 25, 2016: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/27885298/klippel-trenaunay-syndrome-a-case-report
#5
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
#6
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/27868338/incomplete-timothy-syndrome-secondary-to-a-mosaic-mutation-of-the-cacna1c-gene-diagnosed-using-next-generation-sequencing
#7
Amandine Baurand, Sylvie Falcon-Eicher, Gabriel Laurent, Elisabeth Villain, Caroline Bonnet, Christel Thauvin-Robinet, Caroline Jacquot, Jean-Christophe Eicher, Jean-Baptiste Gourraud, Sébastien Schmitt, Stéphane Bézieau, Mathilde Giraud, Solenne Dumont, Paul Kuentz, Vincent Probst, Antoine Burguet, Florence Kyndt, Laurence Faivre
Autosomal dominant genetic diseases can occur de novo and in the form of somatic mosaicism, which can give rise to a less severe phenotype, and make diagnosis more difficult given the sensitivity limits of the methods used. We report the case of female child with a history of surgery for syndactyly of the hands and feet, who was admitted at 6 years of age to a pediatric intensive care unit following cardiac arrest. The electrocardiogram (ECG) showed a long QT interval that on occasions reached 500 ms. Despite the absence of facial dysmorphism and the presence of normal psychomotor development, a diagnosis of Timothy syndrome was made given the association of syndactyly and the ECG features...
November 21, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27865944/misoprostol-exposure-during-the-first-trimester-of-pregnancy-is-the-malformation-risk-varying-depending-on-the-indication
#8
Marine Auffret, Nathalie Bernard-Phalippon, Joëlle Dekemp, Patrick Carlier, Marie Gervoise Boyer, Thierry Vial, Sophie Gautier
OBJECTIVE: To report the prospective follow-up of pregnancies exposed to misoprostol during the first trimester and analyse the teratogenic risk depending on the indication for use. STUDY DESIGN: Prospective observational study of 265 women exposed to misoprostol during the first 12 weeks of pregnancy and followed until the delivery. Women were included if they or their physician had contacted a French pharmacovigilance centre before 22 weeks of gestation (WG) to obtain information on the risk of misoprostol exposure, and if there had been misoprostol exposure before 13 WG...
November 11, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/27859469/fraser-syndrome-features-suggestive-of-prenatal-diagnosis-in-a-review-of-38-cases
#9
Aude Tessier, Mélie Sarreau, Fanny Pelluard, Gwenaelle André, Sophie Blesson, Martine Bucourt, Pierre Dechelotte, Laurence Faivre, Thierry Frébourg, Alice Goldenberg, Valérie Goua, Corinne Jeanne-Pasquier, Fabien Guimiot, Annie Laquerriere, Nicole Laurent, Mathilde Lefebvre, Philippe Loget, Martine Maréchaud, Charlotte Mechler, Marie-Josée Perez, Jean Christophe Sabourin, Alain Verloes, Sophie Patrier, Anne-Marie Guerrot
OBJECTIVE: Fraser syndrome (FS) is a rare malformation recessive disorder. Major criteria are cryptophtalmos, syndactyly, respiratory, genital and urinary tract anomalies. Few antenatal presentations have been reported. METHOD: We analyzed the prenatal and postnatal fetal phenotype in 38 cases of FS, including 25 pregnancy termination cases, 8 intra-uterine death cases and 4 cases that died after birth. RESULTS: Including both prenatal and postnatal fetal phenotypic evaluation, all cases presented dysmorphic features with nose and ear dysplasia...
November 17, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27785413/t-lymphoblastic-leukemia-lymphoma-in-macedonian-patients-with-nijmegen-breakage-syndrome
#10
S A Kocheva, K Martinova, Z Antevska-Trajkova, B Coneska-Jovanova, A Eftimov, A J Dimovski
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive chromosomal instability disorder characterized by microcephaly, immunodeficiency, radiosensitivity and a very high predisposition to malignancy. The gene responsible for the disease, NBS1, is located on chromosome 8q21 and encodes a protein called nibrin. After identification of the gene, a truncating 5 bp deletion, 657-661delACAAA, was identified as the disease-causing mutation in patients with the NBS. In this report, we describe two patients with NBS and T-lymphoblastic leukemia/lymphoma in a Macedonian family...
July 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/27759939/distal-limb-anomalies-in-patients-with-congenital-dyserythropoietic-anemia
#11
Achiya Zvi Amir, Gadi Horev, Joanne Yacobovich, Michael Bennett, Hannah Tamary
The congenital dyserythropoietic anemias (CDAs) are a group of rare genetic disorders characterized by ineffective erythropoiesis and the development of secondary hemochromatosis. Distal limb anomalies are a well-documented though rare feature of congenital dyserythropoietic anemia type I, that have not been reported so far in other types. We describe a patient with congenital dyserythropoietic anemia type II and four members of a family with clinical features of congenital dyserythropoietic anemia type III with distal limb anomalies...
October 19, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27694961/mutations-in-the-hect-domain-of-nedd4l-lead-to-akt-mtor-pathway-deregulation-and-cause-periventricular-nodular-heterotopia
#12
Loïc Broix, Hélène Jagline, Ekaterina L Ivanova, Stéphane Schmucker, Nathalie Drouot, Jill Clayton-Smith, Alistair T Pagnamenta, Kay A Metcalfe, Bertrand Isidor, Ulrike Walther Louvier, Annapurna Poduri, Jenny C Taylor, Peggy Tilly, Karine Poirier, Yoann Saillour, Nicolas Lebrun, Tristan Stemmelen, Gabrielle Rudolf, Giuseppe Muraca, Benjamin Saintpierre, Adrienne Elmorjani, Martin Moïse, Nathalie Bednarek Weirauch, Renzo Guerrini, Anne Boland, Robert Olaso, Cecile Masson, Ratna Tripathy, David Keays, Cherif Beldjord, Laurent Nguyen, Juliette Godin, Usha Kini, Patrick Nischké, Jean-François Deleuze, Nadia Bahi-Buisson, Izabela Sumara, Maria-Victoria Hinckelmann, Jamel Chelly
Neurodevelopmental disorders with periventricular nodular heterotopia (PNH) are etiologically heterogeneous, and their genetic causes remain in many cases unknown. Here we show that missense mutations in NEDD4L mapping to the HECT domain of the encoded E3 ubiquitin ligase lead to PNH associated with toe syndactyly, cleft palate and neurodevelopmental delay. Cellular and expression data showed sensitivity of PNH-associated mutants to proteasome degradation. Moreover, an in utero electroporation approach showed that PNH-related mutants and excess wild-type NEDD4L affect neurogenesis, neuronal positioning and terminal translocation...
November 2016: Nature Genetics
https://www.readbyqxmd.com/read/27637412/-congenital-malformations-of-the-forefoot
#13
B Salazard, C Philandrianos, A Gaudeuille
Malformations and deformations of the forefoot are a frequent reason for consultation. The most frequent malformations viewed at birth are syndactylies (second web space), clinodactylies (quintus varus, halllux), polydactylies (hallux, fifth toe). The macrodactylies, hypoplasia, amniotic bands are rare. The management of these defects requires knowledge of surgery adult foot, plastic surgery and especially collaboration with physiotherapists, podiatrists and orthotists. The fast growth of the foot the first year and the development of walking at one year require to start early the treatment of deformations and to anticipate the evolution of malformations...
October 2016: Annales de Chirurgie Plastique et Esthétique
https://www.readbyqxmd.com/read/27595943/oligodactyly-with-thumb
#14
Goo Hyun Baek, Jihyeung Kim
BACKGROUND: Oligodactyly of the hand is one of the rarest congenital anomalies of upper extremities and defined as the presence of fewer than five fingers on a hand. Although it usually occurs in association with hypoplasia or absence of ulna, it can occur without abnormality of the forearm bones. The purpose of this study is to present clinical features and radiographic characteristics of hand oligodactyly with thumb. METHODS: Five patients of oligodactyly with thumb who showed normal forearm bones, were evaluated...
October 2016: Journal of Hand Surgery Asian-Pacific Volume
https://www.readbyqxmd.com/read/27593853/a-case-of-timothy-syndrome-with-adrenal-medullary-dystrophy
#15
Miho Kawaida, Tokiya Abe, Toshio Nakanishi, Yoko Miyahara, Hiroyuki Yamagishi, Michiie Sakamoto, Taketo Yamada
Timothy syndrome (TS) is a congenital long QT syndrome that is associated with syndactyly and mutations in CACNA1C, encoding an L-type voltage-dependent calcium channel, Cav1.2. Recently, TS has been associated with autism and other psychological disorders. This case indicated bradycardia by prenatal screening and was diagnosed as TS by the occurrence of syndactyly and QT prolongation at birth. Despite therapy with anti-arrhythmia reagents and a pacemaker, the patient died 2 months after birth and was autopsied...
October 2016: Pathology International
https://www.readbyqxmd.com/read/27580948/prevalence-of-congenital-limb-defects-data-from-birth-defects-registries-in-three-provinces-in-southern-thailand
#16
Somchit Jaruratanasirikul, Boonsin Tangtrakulwanich, Pornruedee Rachatawiriyakul, Hutcha Sriplung, Wannee Limpitikul, Pathikan Dissaneevate, Nattasit Khunnarakpong, Pongsak Tantichantakarun
This is the first population-based study in Thailand on the prevalence of congenital limb defects (CLD). Data were obtained from recently established birth defects registries in three southern Thailand provinces during 2009-2013. Entries in the birth defects registries included live births, stillbirths after 24 weeks gestational age, and terminations of pregnancy following a prenatal diagnosis of fetal anomaly. The total of 186 393 births recorded included 424 CLD cases, giving an average prevalence of 2...
September 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27580109/radiographic-and-computed-tomographic-evaluation-and-gait-analysis-of-brazilian-minipigs-with-syndactyly
#17
Pedro L T Justolin, Sheila C Rahal, Felipe S Agostinho, Maria J Mamprim, Carlos R Teixeira, Danuta P Doiche, Vivian R Babicsak
OBJECTIVE To characterize a population of Brazilian minipigs with naturally occurring syndactyly by use of plain radiographs and CT images and to evaluate kinetic and temporospatial variables by use of a pressure-sensing walkway. ANIMALS 10 Brazilian minipigs from 6 to 8 months of age (group 1, 5 healthy pigs [body weight, 10.5 to 18.5 kg]; group 2, 5 pigs with syndactyly [body weight, 7.5 to 18.0 kg]). PROCEDURES Forelimbs and hind limbs of all pigs were assessed by use of radiography and CT. Gait was analyzed by use of a pressure-sensing walkway...
September 2016: American Journal of Veterinary Research
https://www.readbyqxmd.com/read/27536472/the-modified-3-square-flap-method-for-reconstruction-of-toe-syndactyly
#18
Naoshige Iida, Ayako Watanabe
Bandoh reported the 3-square-flap method as a procedure for interdigital space reconstruction in patients with minor syndactyly. We recently modified this flap design so that it could be used in the treatment of toe syndactyly involving fusion of the areas distal to the proximal interphalangeal joint. With our method, the reconstructed interdigital space consists of 4 oblong flaps (A through D). Flaps A and D are designed on the dorsal side, flap B is designed on the frontal plane of the interdigital space, and flap C is designed on the plantar side...
July 2016: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/27534905/evaluation-of-the-maxillofacial-morphological-characteristics-of-apert-syndrome-infants
#19
Hitomi Kakutani, Yoshiaki Sato, Yuri Tsukamoto-Takakusagi, Fumio Saito, Akihiko Oyama, Junichiro Iida
Apert syndrome is a rare craniosynostosis syndrome characterized by irregular craniosynostosis, midface hypoplasia, and syndactyly of the hands and feet. Previous studies analyzed individuals with Apert syndrome and reported some facial and intraoral features caused by severe maxillary hypoplasia. However, these studies were performed by analyzing both individuals who had and those had not received a palate repair surgery, which had a high impact on the maxillary growth and occlusion. To highlight the intrinsic facial and intraoral features of Apert syndrome, 5 Japanese individuals with Apert syndrome from 5 years and 2 months to 9 years and 10 months without cleft palate were analyzed in this study...
August 17, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27504086/emergent-spatial-patterns-of-excitatory-and-inhibitory-synaptic-strengths-drive-somatotopic-representational-discontinuities-and-their-plasticity-in-a-computational-model-of-primary-sensory-cortical-area-3b
#20
Kamil A Grajski
Mechanisms underlying the emergence and plasticity of representational discontinuities in the mammalian primary somatosensory cortical representation of the hand are investigated in a computational model. The model consists of an input lattice organized as a three-digit hand forward-connected to a lattice of cortical columns each of which contains a paired excitatory and inhibitory cell. Excitatory and inhibitory synaptic plasticity of feedforward and lateral connection weights is implemented as a simple covariance rule and competitive normalization...
2016: Frontiers in Computational Neuroscience
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