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https://www.readbyqxmd.com/read/29748102/complete-first-ray-polydactyly-a-case-report
#1
Joshua L Moore, Alison Joseph
Polydactyly has been described as the most common congenital deformity in children. However, it is less common in the foot, with surgical treatment for the deformity less commonly described in reported studies. We present a rare case of polydactyly, with complete first ray duplication, in an infant female. The purpose of our report was to outline a surgical plan and to discuss our results when treating this rare presentation of polydactyly.
May 7, 2018: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/29739620/a-threshold-model-for-polydactyly
#2
Axel Lange, Hans L Nemeschkal, Gerd B Müller
We present a cellular automaton-based model for threshold behaviors in vertebrate digit patterning and polydactyly formation. The rules of the model follow classical reactor-diffusion algorithms. Yet it is not physical diffusion that is taken as the required natural agent but the propagation of cellular states, which can be represented by the same differential equations. The bistable cellular states in the model correspond to mesenchymal limb bud cells that can be either "on" or "off" for the cartilage differentiation pathway...
April 25, 2018: Progress in Biophysics and Molecular Biology
https://www.readbyqxmd.com/read/29722020/atrioventricular-canal-defect-and-genetic-syndromes-the-unifying-role-of-sonic-hedgehog
#3
REVIEW
M C Digilio, F Pugnaloni, A De Luca, G Calcagni, A Baban, M L Dentici, P Versacci, B Dallapiccola, M Tartaglia, B Marino
The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" demonstrated that the distinct morphology and combination of AVCD features in some of these syndromes is reminiscent of the cardiac phenotype found in heterotaxy, a malformation complex previously associated with functional cilia abnormalities and aberrant Hedgehog (Hh) signaling...
May 3, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29716976/visual-diagnosis-visual-impairment-polydactyly-and-obesity-red-flags-in-a-child
#4
Hitesh Agrawal, Gunjan Dokania, Hugh D Allen
No abstract text is available yet for this article.
May 2018: Pediatrics in Review
https://www.readbyqxmd.com/read/29704304/loss-of-function-ift27-variants-associated-with-an-unclassified-lethal-fetal-ciliopathy-with-renal-agenesis
#5
Chloé Quélin, Philippe Loget, Lucile Boutaud, Nadia Elkhartoufi, Joelle Milon, Sylvie Odent, Mélanie Fradin, Florence Demurger, Laurent Pasquier, Sophie Thomas, Tania Attié-Bitach
Ciliopathies comprise a group of clinically heterogeneous and overlapping disorders with a wide spectrum of phenotypes ranging from prenatal lethality to adult-onset disorders. Pathogenic variants in more than 100 ciliary protein-encoding genes have been described, most notably those involved in intraflagellar transport (IFT) which comprises two protein complexes, responsible for retrograde (IFT-A) and anterograde transport (IFT-B). Here we describe a fetus with an unclassified severe ciliopathy phenotype including short ribs, polydactyly, bilateral renal agenesis, and imperforate anus, with compound heterozygosity for c...
April 27, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29666954/clinical-characteristics-of-a-japanese-patient-with-bardet-biedl-syndrome-caused-by-bbs10-mutations
#6
Kentaro Kurata, Katsuhiro Hosono, Akiko Hikoya, Akihiko Kato, Hirotomo Saitsu, Shinsei Minoshima, Tsutomu Ogata, Yoshihiro Hotta
PURPOSE: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by retinal dystrophy, renal dysfunction, central obesity, mental impairment, polydactyly, and hypogonadism. Only limited information on BBS is available from Japanese patients. In addition, there are currently no reports of Japanese patients with BBS caused by BBS10 mutations. The purpose of this study was to present the characteristics of a Japanese patient with BBS caused by BBS10 mutations. PATIENT AND METHODS: The patient was a 22-year-old Japanese woman...
April 17, 2018: Japanese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29653020/developmental-toxicity-of-flucytosine-following-administration-to-pregnant-rats-at-a-specific-time-point-of-organogenesis
#7
Sakiko Fujii, Kaoru Yabe, Yuki Kariwano-Kimura, Masatoshi Furukawa, Kouta Itoh, Masao Matsuura, Masao Horimoto
To investigate the abnormalities that are specific to administration of flucytosine at one time point during embryonic organogenesis, flucytosine was administered orally to pregnant SD rats in a single dose on day 11 of pregnancy at 25 or 35 mg/kg. Fetuses on day 20 of pregnancy were externally, viscerally and skeletally examined. Maternal body weight gain and food consumption were suppressed the day after administration of a 35 mg/kg. Fetal examinations revealed various alterations in both dose groups: externally preaxial polydactyly in the hind limb; skeletally fused lumbar centrum, absent sacral centrum, supernumerary sacral vertebra, and absent ribs...
April 13, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29651423/zone-of-polarizing-activity-regulatory-sequence-mutations-duplications-with-preaxial-polydactyly-and-longitudinal-preaxial-ray-deficiency-in-the-phenotype-a-review-of-human-cases-animal-models-and-insights-regarding-the-pathogenesis
#8
REVIEW
Mohammad M Al-Qattan
Clinicians and scientists interested in developmental biology have viewed preaxial polydactyly (PPD) and longitudinal preaxial ray deficiency (LPAD) as two different entities. Point mutations and duplications in the zone of polarizing activity regulatory sequence (ZRS) are associated with anterior ectopic expression of Sonic Hedgehog (SHH) in the limb bud and usually result in a PPD phenotype. However, some of these mutations/duplications also have LPAD in the phenotype. This unusual PPD-LPAD association in ZRS mutations/duplications has not been specifically reviewed in the literature...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29605658/novel-mutations-in-the-ciliopathy-associated-gene-cplane1-c5orf42-cause-ofd-syndrome-type-vi-rather-than-joubert-syndrome
#9
Carine Bonnard, Mohammad Shboul, Seyed Hassan Tonekaboni, Alvin Yu Jin Ng, Sumanty Tohari, Kakaly Ghosh, Angeline Lai, Jiin Ying Lim, Ene Choo Tan, Louise Devisme, Morgane Stichelbout, Adila Alkindi, Nazreen Banu, Zafer Yüksel, Jamal Ghoumid, Nadia Elkhartoufi, Lucile Boutaud, Alessia Micalizzi, Maggie Siewyan Brett, Byrappa Venkatesh, Enza Maria Valente, Tania Attié-Bitach, Bruno Reversade, Ariana Kariminejad
Mutations in CPLANE1 (previously known as C5orf42) cause Oral-Facial-Digital Syndrome type VI (OFD6) as well as milder Joubert syndrome (JS) phenotypes. Seven new cases from five unrelated families diagnosed with pure OFD6 were systematically examined. Based on the clinical manifestations of these patients and those described in the literature, we revised the diagnostic features of OFD6 and include the seven most common characteristics: 1) molar tooth sign, 2) tongue hamartoma and/or lobulated tongue, 3) additional frenula, 4) mesoaxial polydactyly of hands, 5) preaxial polydactyly of feet, 6) syndactyly and/or bifid toe, and 7) hypothalamic hamartoma...
March 29, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29587601/experimental-evidence-that-preaxial-polydactyly-and-forearm-radial-deficiencies-may-share-a-common-developmental-origin
#10
Wee L Lam, Julia D H Oh, Edward J Johnson, Sandra Poyatos Pertinez, Chloe Stephens, Megan G Davey
Preaxial polydactyly is a congenital hand anomaly predominantly of sporadic occurrence, which is frequently associated with abnormalities of the Sonic hedgehog signalling pathway. In experimentally induced preaxial polydactyly, radial aplasia is also frequently observed. To determine if there is a correlation between preaxial polydactyly and radial aplasia, we induced ectopic Sonic hedgehog signalling during chicken limb development with application of a smoothened-agonist (SAG) or retinoic acid. Application of SAG caused malformations in 71% limbs including preaxial polydactyly (62%) and forearm abnormalities (43%)...
January 1, 2018: Journal of Hand Surgery, European Volume
https://www.readbyqxmd.com/read/29573897/documenting-combined-congenital-upper-limb-anomalies-using-the-oberg-manske-and-tonkin-classification-implications-for-epidemiological-research-and-outcome-comparisons
#11
Martijn Baas, Pieter R Zwanenburg, Steven E R Hovius, Christianne A van Nieuwenhoven
PURPOSE: Congenital upper limb anomalies (CULAs) exhibit a wide spectrum of phenotypic manifestations. To help the clinician evaluating this variety of CULAs, the Oberg, Manske, and Tonkin (OMT) classification was recently introduced. The OMT classification allows for documentation of combined hand anomalies. However, subsequent epidemiological and validation studies using the OMT scheme commonly registered only the main anomaly per arm. This study illustrates both the deficits of single diagnosis documentation as well as the merits of registering every anomaly for epidemiological research, outcome comparison, and overall applicability of the classification...
March 21, 2018: Journal of Hand Surgery
https://www.readbyqxmd.com/read/29547129/proliferation-of-nerve-fibres-as-a-novel-feature-of-pacifier-polydactyly
#12
Kazunari Sugita, Shigeto Yanagihara, Osamu Yamamoto
No abstract text is available yet for this article.
March 16, 2018: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/29543231/a-point-mutation-in-the-pre-zrs-disrupts-sonic-hedgehog-expression-in-the-limb-bud-and-results-in-triphalangeal-thumb-polysyndactyly-syndrome
#13
Jacob W P Potuijt, Martijn Baas, Rivka Sukenik-Halevy, Hannie Douben, Picard Nguyen, Deon J Venter, Renée Gallagher, Sigrid M Swagemakers, Steven E R Hovius, Christianne A van Nieuwenhoven, Robert-Jan H Galjaard, Peter J van der Spek, Nadav Ahituv, Annelies de Klein
PurposeThe zone of polarizing activity regulatory sequence (ZRS) is an enhancer that regulates sonic hedgehog during embryonic limb development. Recently, mutations in a noncoding evolutionary conserved sequence 500 bp upstream of the ZRS, termed the pre-ZRS (pZRS), have been associated with polydactyly in dogs and humans. Here, we report the first case of triphalangeal thumb-polysyndactyly syndrome (TPT-PS) to be associated with mutations in this region and show via mouse enhancer assays how this mutation leads to ectopic expression throughout the developing limb bud...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29490900/limb-hypertrophy-a-skin-vascular-malformation-and-bilateral-hydroureteronephrosis-in-a-neonate
#14
Grazia Morandi, Claudia Piona, Daniela Degani, May Chebl El Hachem, Nicoletta Resta, Carmela Richelli, Silvana Lauriola
The second daughter of two healthy non-consanguineous parents, born at 37 weeks, presented with a large 3×2 cm abdominal angiomatous formation on her left flank, associated with left leg hypertrophy, macrodactyly of both feet with syndactyly of the second and third finger of the right food and left polydactyly (figure 1). Her neurological development and cardiopulmonary function were normal; she had no gastrointestinal or skeletal problems. Her weight was 3195 g (75th-90th centile). edpract;archdischild-2017-314021v1/F1F1F1Figure 1Photos of the lower limbs and the left side of the abdomen reveal bilateral hypertrophy of the limbs, more evident in the left leg, macrodactyly of both feet with syndactyly of the second and third finger of the right foot and left polydactyly and a large abdominal angiomatous formation...
February 28, 2018: Archives of Disease in Childhood. Education and Practice Edition
https://www.readbyqxmd.com/read/29482704/ellis-van-creveld-syndrome-in-a-neonate
#15
Sughra Wahid, Saqib Aslam, Sadaf Minhas
Ellis-van Creveld syndrome is a rare form of skeletal and chondroectodermal dysplasia which affects all the three ectodermal, mesodermal, and endodermal derivatives. It has an autosomal recessive inheritance. This is caused by mutations in 1 of 2 genes, EVC 1 or EVC 2. This syndrome has a constellation of characteristic features that include bilateral post-axial polydactyly, mainly involving the upper limbs, hypoplastic nails and teeth, congenital heart defects, and chondroectodermal dysplasia. It is mainly a disorder of Amish population where incidence of this disease is 1/5000 and its incidence in non-Amish population is 7/1000000...
March 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29479449/meckel-gruber-syndrome-associated-with-anencephaly-an-unusual-reported-case
#16
Houda Nasser Al Yaqoubi, Nishat Fatema
Meckel-Gruber syndrome (MGS) is a rare and lethal ciliopathic disorder, with the incidence ranging between 1 in 13 000-400 000 live births. MGS is characterized by multisystem developmental malformations with the classical features of renal cystic dysplasia, occipital encephalocele and post-axial polydactyly. Except for occipital encephalocele, the CNS abnormalities associated with MGS that are less frequently reported include hydrocephaly, anencephaly or malformation of cerebellum. Our presented case of MGS is associated with anencephaly and other facial abnormalities...
February 2018: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/29458881/prenatal-diagnosis-of-short-rib-polydactyly-syndrome-type-iii-or-short-rib-thoracic-dysplasia-3-with-or-without-polydactyly-srtd3-associated-with-compound-heterozygous-mutations-in-dync2h1-in-a-fetus
#17
Chih-Ping Chen, Tsang-Ming Ko, Tung-Yao Chang, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Wayseen Wang
OBJECTIVE: We present the perinatal imaging findings and molecular genetic analysis in a fetus with short-rib polydactyly syndrome (SRPS) type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3). CASE REPORT: A 29-year-old, primigravid woman was referred for genetic counseling at 15 weeks of gestation because of abnormal ultrasound findings of short limbs, a narrow chest and bilateral polydactyly of the hands and feet, consistent with a diagnosis of SRPS type III...
February 2018: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29457131/keeping-an-eye-on-bardet-biedl-syndrome-a-comprehensive-review-of-the-role-of-bardet-biedl-syndrome-genes-in-the-eye
#18
Katie Weihbrecht, Wesley A Goar, Thomas Pak, Janelle E Garrison, Adam P DeLuca, Edwin M Stone, Todd E Scheetz, Val C Sheffield
Upwards of 90% of individuals with Bardet-Biedl syndrome (BBS) display rod-cone dystrophy with early macular involvement. BBS is an autosomal recessive, genetically heterogeneous, pleiotropic ciliopathy for which 21 causative genes have been discovered to date. In addition to retinal degeneration, the cardinal features of BBS include obesity, cognitive impairment, renal anomalies, polydactyly, and hypogonadism. Here, we review the genes, proteins, and protein complexes involved in BBS and the BBS model organisms available for the study of retinal degeneration...
September 2017: Medical Research Archives
https://www.readbyqxmd.com/read/29451301/intu-related-oral-facial-digital-syndrome-type-vi-a-confirmatory-report
#19
A-L Bruel, J Levy, N Elenga, A Defo, A Favre, H Lucron, Y Capri, L Perrin, S Passemard, Y Vial, A-C Tabet, L Faivre, C Thauvin-Robinet, A Verloes
Oral-facial-digital (OFD) syndromes are a subgroup of ciliopathies distinguished by the co-occurrence of hamartomas and/or multiple frenula of the oral region and digital anomalies. Several clinical forms of OFD syndromes are distinguished by their associated anomalies and/or inheritance patterns, and at least 20 genetic types of OFD syndromes have been delineated. We describe here a child with preaxial and postaxial polydactyly, lingual hamartoma, a congenital heart defect, delayed development and cerebellar peduncles displaying the molar tooth sign...
February 16, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29451098/the-association-between-preaxial-polydactyly-and-radial-longitudinal-deficiency-in-syndromic-cases-a-report-on-nine-families
#20
Mohammad M Al-Qattan
Preaxial polydactyly and radial longitudinal deficiency are usually viewed as two different entities. We present nine families with different disorders in which both preaxial polydactyly and radial longitudinal deficiency were seen in the phenotype. This indicates that both entities may be caused by the same developmental error or insult. The pathogenesis is complex and may be related to the interactions of two signalling loops: the first loop (named as the radial longitudinal deficiency loop) contains genes/proteins responsible for the development of the radial ray; and the second loop (named as the preaxial polydactyly loop) contains the Sonic Hedgehog involved in the pathogenesis of preaxial polydactyly...
January 1, 2018: Journal of Hand Surgery, European Volume
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