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https://www.readbyqxmd.com/read/28422522/molecular-genetic-characterization-of-a-chinese-family-with-severe-split-hand-foot-malformation
#1
Lihua Cao, Wei Yang, Shusen Wang, Chen Chen, Xue Zhang, Yang Luo
AIMS: Split hand/foot malformation (SHFM) is a congenital limb malformation characterized by underdeveloped or absent central digital rays, clefts of the hands and feet, and variable syndactyly of the remaining digits. SHFM is a genetically heterogeneous disease; the aim of this study was to identify pathogenic variations in a Chinese family with SHFM. MATERIALS AND METHODS: Haplotype analyses with microsatellite markers covering the five SHFM loci were performed to localize the causative locus...
April 19, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28372639/single-stage-separation-of-3-and-4-finger-incomplete-simple-syndactyly-with-contiguous-gull-wing-flaps-a-technique-to-minimize-or-avoid-skin-grafting
#2
Xiaofei Tian, Jun Xiao, Tianwu Li, Wei Chen, Qiu Lin, Harvey Chim
PURPOSE: Staged separation of 3- and 4-finger syndactyly is commonly performed owing to concerns about vascular supply to the central digit and availability of flap skin. We performed single-stage separation of patients with incomplete syndactyly of multiple digits with adjacent contiguous dorsal gullwing flaps and avoided skin grafts in the majority of cases. METHODS: Seventy-four webs of 31 patients with more than 2-finger incomplete syndactyly were included. Median age at surgical separation was 12 months (range, 5-123 months)...
April 2017: Journal of Hand Surgery
https://www.readbyqxmd.com/read/28371864/a-multicentre-study-of-patients-with-timothy-syndrome
#3
Mark A Walsh, Christian Turner, Katherine W Timothy, Neil Seller, Dominic L Hares, Andrew F James, Jules C Hancox, Orhan Uzun, Dean Boyce, Alan G Stuart, Paul Brennan, Caroline Sarton, Karen McGuire, Ruth A Newbury-Ecob, Karen Mcleod
Aims: Timothy syndrome (TS) is an extremely rare multisystem disorder characterized by marked QT prolongation, syndactyly, seizures, behavioural abnormalities, immunodeficiency, and hypoglycaemia. The aim of this study was to categorize the phenotypes and examine the outcomes of patients with TS. Methods and results: All patients diagnosed with TS in the United Kingdom over a 24-year period were reviewed. Fifteen centres in the British Congenital Arrhythmia Group network were contacted to partake in the study...
March 24, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28363298/postburn-contractures-of-the-hand
#4
REVIEW
Matthew Brown, Kevin C Chung
Postburn contractures are a common occurrence after severe burn injuries. It is important to understand the pathologic condition and anatomy of specific postburn deformities in order to provide comprehensive surgical care. Postburn contractures can result in a flexion contracture, boutonniere deformity, burn syndactyly, metacarpophalangeal extension contracture, wrist contracture, or claw hand. A patient evaluation is performed before proceeding to the operating room. Surgery sequences require proper incision design, release of the skin, and deeper contracted structures and coverage with an appropriate flap or graft...
May 2017: Hand Clinics
https://www.readbyqxmd.com/read/28324176/bhlha9-regulates-apical-ectodermal-ridge-formation-during-limb-development
#5
Kensuke Kataoka, Takahide Matsushima, Yoshiaki Ito, Tempei Sato, Shigetoshi Yokoyama, Hiroshi Asahara
Split hand/foot malformation (SHFM) and SHFM combined with long-bone deficiency (SHFLD) are congenital dysgeneses of the limb. Although six different loci/mutations (SHFM1-SHFM6) have been found from studies on families with SHFM, the causes and associated pathogenic mechanisms for a large number of patients remain unidentified. On the basis of the identification of a duplicated gene region involving BHLHA9 in some affected families, BHLHA9 was identified as a novel SHFM/SHFLD-related gene. Although Bhlha9 is predicted to participate in limb development as a transcription factor, its precise function is unclear...
March 21, 2017: Journal of Bone and Mineral Metabolism
https://www.readbyqxmd.com/read/28322501/multigenerational-pedigree-with-star-syndrome-a-novel-fam58a-variant-and-expansion-of-the-phenotype
#6
Nicole J Boczek, Teresa Kruisselbrink, Margot A Cousin, Patrick R Blackburn, Eric W Klee, Ralitza H Gavrilova, Brendan C Lanpher
STAR syndrome is a rare X-linked dominant disorder characterized by toe Syndactyly, Telecanthus, Anogenital malformations, and Renal malformations, and is caused by loss-of-function variants in FAM58A. Our proband presented with the hallmark features of STAR syndrome, as well as some additional less typical features including tethered cord and hearing loss. The proband's mother and maternal half-sister had similar clinical histories, but had variability in phenotypic severity. Clinical whole exome sequencing revealed a novel pathogenic nonsense variant, c...
March 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28319210/oculo-dento-digital-dysplasia-oddd-due-to-a-gja1-mutation-report-of-a-case-with-emphasis-on-dental-manifestations
#7
Christina Hadjichristou, Violetta Christophidou-Anastasiadou, Athina Bakopoulou, George A Tanteles, Maria A Loizidou, Kyriacos Kyriacou, Andreas Hadjisavvas, Konstantinos Michalakis, Argyris Pissiotis, Petros Koidis
Oculo-dento-digital dysplasia (ODDD) is a congenital disorder manifesting with multiple phenotypic abnormalities involving the face, eyes, teeth, and limbs in addition to neurologic symptomatology. This report aims to present a female patient with ODDD who was referred due to extensive oral restorative needs. The presence of hypoplastic enamel triggered further evaluation. Characteristic facies with hypoplastic alae nasi and syndactyly offered greater insight into the phenotype of the syndrome. Clinical suspicion was confirmed by genetic sequencing revealing heterozygous mutation in GJA1...
March 20, 2017: International Journal of Prosthodontics
https://www.readbyqxmd.com/read/28316926/apert-syndrome-with-s252w-fgfr2-mutation-and-characterization-using-phenomizer-an-indian-case-report
#8
Fulesh Kunwar, Shikha Tewari, Sonal R Bakshi
Human genetic disease needs differential diagnosis to optimize clinical management, enable prenatal detection, and genetic counselling. The current methods of robust DNA sequencing also require next generation phenotyping to match with for better interpretation of genotypic and phenotypic heterogeneity commonly observed. We report use of human ontology based phenotypic characterization with Phenomizer that gives statistical score for possible diagnoses based on which, the gene mutation was studied. A case of craniosynostosis which refers to a group of syndromes characterized by a premature fusion of skull was studied...
January 2017: Journal of Oral Biology and Craniofacial Research
https://www.readbyqxmd.com/read/28251593/frontonasal-dysplasia-oral-features-restorative-and-orthodontic-dental-treatment-in-a-child
#9
R A Valério, C Scatena, F R R Santos, F L Romano, A M Queiroz, F W G Paula-Silva
BACKGROUND: Frontonasal dysplasia is a complex rare malformation, characterised by abnormalities involving the central portion of the face, especially the eyes, nose and forehead. It can manifest independently or associated with other abnormalities as part of some syndromes. CASE REPORT: The purpose of this case report was to describe a 5-year-old patient, diagnosed with frontonasal dysplasia. Among the abnormalities characterised with this disorder were ocular hypertelorism, broad nose tip with median notch, median facial cleft, bifid anterior skull, low set hairline, Poland's syndactyly and ankyloglossia...
March 1, 2017: European Archives of Paediatric Dentistry: Official Journal of the European Academy of Paediatric Dentistry
https://www.readbyqxmd.com/read/28223754/almost-unilateral-focal-dermal-hypoplasia
#10
Solam Lee, Sung Jay Choe, Sung Ku Ahn
Focal dermal hypoplasia, caused by mutations in PORCN, is an X-linked ectodermal dysplasia, also known as Goltz syndrome. Only seven cases of unilateral or almost unilateral focal dermal hypoplasia have been reported in the English literature and there have been no previously reported cases in the Republic of Korea. A 19-year-old female presented with scalp defects, skin lesions on the right leg and the right trunk, and syndactyly of the right fourth and fifth toes. Cutaneous examination revealed multiple atrophic plaques and a brown and yellow mass with fat herniation and telangiectasia that was mostly located on the lower right leg...
February 2017: Annals of Dermatology
https://www.readbyqxmd.com/read/28211989/timothy-syndrome-1-genotype-without-syndactyly-and-major-extracardiac-manifestations
#11
Róbert Sepp, Lidia Hategan, Attila Bácsi, Judit Cseklye, László Környei, János Borbás, Márta Széll, Tamás Forster, István Nagy, Zoltán Hegedűs
Timothy syndrome 1 (TS1) is a rare genetic disorder characterized by multisystem abnormalities including QT prolongation, congenital heart defects, facial dysmorphism, episodic hypoglycemia, and neurological symptoms. A morphological hallmark of TS1 is syndactyly, present in all cases. TS1 is caused by the canonical p.Gly406Arg mutation in the alternatively spliced exon 8A in the CACNA1C gene, encoding for the main cardiac L-type calcium channel. A variant case of TS1 is reported. The proband had intermittent fetal bradycardia with heart rate of 72 bpm...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28177159/connexin43-mutant-patient-derived-induced-pluripotent-stem-cells-exhibit-altered-differentiation-potential
#12
Jessica L Esseltine, Qing Shao, Courtney Brooks, Jacinda Sampson, Dean H Betts, Cheryle A Séguin, Dale W Laird
We present for the first time the generation of induced pluripotent stem cells (iPSCs) from a patient with a connexin-linked disease. The importance of gap junctional intercellular communication in bone homeostasis is exemplified by the autosomal dominant developmental disorder oculodentodigital dysplasia (ODDD), which is linked to mutations in the GJA1 (Cx43) gene. ODDD is characterized by craniofacial malformations, ophthalmic deficits, enamel hypoplasia, and syndactyly. In addition to harboring a Cx43 p...
February 8, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28149203/presentation-and-treatment-of-poland-anomaly
#13
REVIEW
Joseph A Buckwalter V, Apurva S Shah
Background: Poland anomaly is a sporadic, phenotypically variable congenital condition usually characterized by unilateral pectoral muscle agenesis and ipsilateral hand deformity. Methods: A comprehensive review of the medical literature on Poland anomaly was performed using a Medline search. Results: Poland anomaly is a sporadic, phenotypically variable congenital condition usually characterized by unilateral, simple syndactyly with ipsilateral limb hypoplasia and pectoralis muscle agenesis. Operative management of syndactyly in Poland anomaly is determined by the severity of hand involvement and the resulting anatomical dysfunction...
December 2016: Hand: Official Journal of the American Association for Hand Surgery
https://www.readbyqxmd.com/read/28134642/popliteal-pterygium-syndrome-with-syngnathia
#14
Andrea Sisti, Nicola Freda, Alessandro Giacomina, Gian Luca Gatti
Popliteal pterygium syndrome is a condition characterized by skin webs of skin on the popliteal fossa, which may impair mobility unless surgically repaired. Affected individuals may also have syndactyly on the fingers and/or toes. Most people with this disorder present cleft lip and cleft palate and they can have syngnathia, which is a congenital adhesion between maxilla and mandible by fibrous bands, which affects the opening of the mouth. The case that we report is about a 2-month-old male, who presented skin webs bilaterally on the popliteal fossa, syndactyly between the IV and the V toe of the right foot and between the III and the IV toe of the left foot, and genital malformations...
January 27, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28086757/a-combination-of-genetic-and-biochemical-analyses-for-the-diagnosis-of-pi3k-akt-mtor-pathway-associated-megalencephaly
#15
Yutaka Negishi, Fuyuki Miya, Ayako Hattori, Yoshikazu Johmura, Motoo Nakagawa, Naoki Ando, Ikumi Hori, Takao Togawa, Kohei Aoyama, Kei Ohashi, Shinobu Fukumura, Seiji Mizuno, Ayako Umemura, Yoko Kishimoto, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Makoto Nakanishi, Shinji Saitoh
BACKGROUND: Constitutive activation of the PI3K-AKT-mTOR pathway (mTOR pathway) underlies megalencephaly in many patients. Yet, prevalence of the involvement of the PI3K-AKT-mTOR pathway in patients with megalencephaly remains to be elucidated, and molecular diagnosis is challenging. Here, we have successfully established a combination of genetic and biochemical methods for diagnosis of mTOR pathway-associated megalencephaly, and have attempted to delineate the clinical characteristics of the disorder...
January 13, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28061881/moebius-sequence-a-multidisciplinary-clinical-approach
#16
Line Kjeldgaard Pedersen, Rikke Damkjær Maimburg, Jens Michael Hertz, Hans Gjørup, Thomas Klit Pedersen, Bjarne Møller-Madsen, John Rosendahl Østergaard
BACKGROUND: Moebius Sequence (MS) is a rare disorder defined by bilateral congenital paralysis of the abducens and facial nerves in combination with various odontological, craniofacial, ophthalmological and orthopaedic conditions. The aetiology is still unknown; but both genetic (de novo mutations) and vascular events in utero are reported. The purpose of present study was through a multidisciplinary clinical approach to examine children diagnosed with Moebius-like symptoms. Ten children underwent odontological, ophthalmological, obstetric, paediatric, orthopaedic, genetic, radiological and photographical evaluation...
January 6, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28052826/a-systematic-review-and-comparison-of-outcomes-following-simple-syndactyly-reconstruction-with-skin-grafts-or-a-dorsal-metacarpal-advancement-flap
#17
Matthew A Sullivan, Joshua M Adkinson
PURPOSE: Many techniques exist for simple syndactyly reconstruction. The most commonly used techniques involve either skin grafts or a dorsal metacarpal advancement flap. Our aim was to review and compare the outcomes of these 2 techniques systematically. METHODS: We reviewed articles from PubMed, MEDLINE, EMBASE, and Google Scholar published between January 1966 and January 2016. We identified studies that reported outcomes after reconstruction of simple syndactyly using skin grafts and those using only a dorsal metacarpal advancement flap...
January 2017: Journal of Hand Surgery
https://www.readbyqxmd.com/read/28029392/idiopathic-fenestrated-complex-syndactyly-in-a-unique-crisscross-fashion
#18
Benjamin R Williams, Ann E Van Heest
This case presents surgical treatment of a unique form of syndactyly: an isolated fenestrated, complex, crisscross syndactyly of the right middle and ring fingers. A 2-year-old boy presented with the ring finger lying dorsal and the middle finger lying volar, with the middle phalanges syndactylized. A surgical release was performed with a subsequent z-plasty, 2 years later, for scar elongation. At the age of 4, he has essentially full function of his hand with minimal limitations. This case demonstrates that 2 digits that were syndactylized in a coronal plane (ring finger dorsal and middle finger volar) can be successfully surgically separated...
October 28, 2016: Journal of Hand Surgery
https://www.readbyqxmd.com/read/28018909/a-review-of-selected-genes-with-known-effects-on-performance-and-health-of-cattle
#19
REVIEW
Eduardo Casas, Marcus E Kehrli
There are genetic conditions that influence production in dairy and beef cattle. The objective of this review was to describe relevant genetic conditions that have been associated with productivity and health in cattle. Genes or genomic regions that have been identified as a candidate for the condition will be included, and the genetic basis of the condition will be defined. Genes and genetic conditions included in this review are bovine leukocyte adhesion deficiency, deficiency of the uridine monophosphate synthase, bovine chronic interstitial nephritis, horn development, myostatin, complex vertebral malformation, leptin, osteopetrosis, apoptosis peptide activating factor 1, chondrodysplastic dwarfism, caseins, calpastatin, umbilical hernia, lactoglobulin, citrullinemia, cholesterol deficiency, prions, thyroglobulin, diacylglycerol acyltransferase, syndactyly, maple syrup urine disease, slick hair, Factor XI deficiency, and μ-Calpain...
2016: Frontiers in Veterinary Science
https://www.readbyqxmd.com/read/28018470/megalencephaly-capillary-malformation-polymicrogyria-syndrome-the-first-case-report-in-korea
#20
Yeon-Chul Choi, Mi-Sun Yum, Min-Jee Kim, Yun-Jung Lee, Tae-Sung Ko
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the distinctive neuroradiological and morphological features...
November 2016: Korean Journal of Pediatrics
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