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Polydactyly

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https://www.readbyqxmd.com/read/28884880/a-novel-missense-variant-in-the-gli3-zinc-finger-domain-in-a-family-with-digital-anomalies
#1
J Aaron Crapster, Louanne Hudgins, James K Chen, Natalia Gomez-Ospina
Mutations in GLI3, which encodes a transcription factor of the Hedgehog signaling pathway, cause several developmental anomalies linked to inappropriate tissue patterning. Here, we report a novel missense variant in the fifth zinc finger domain of GLI3 (c.1826G>A; p.(Cys609Tyr)) initially identified in a proband with preaxial polydactyly type IV, developmental delay, sensorineural hearing loss, skeletal, and genitourinary anomalies. Additional family members exhibited various digital anomalies such as preaxial polydactyly, syndactyly, and postaxial polydactyly either in isolation or combined...
September 8, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28870638/exome-sequencing-for-the-differential-diagnosis-of-ciliary-chondrodysplasias-example-of-a-wdr35-mutation-case-and-review-of-the-literature
#2
Dinu Antony, Narayanan Nampoory, Chiara Bacchelli, Motasem Melhem, Kaman Wu, Chela T James, Philip L Beales, Mike Hubank, Daisy Thomas, Anant Mashankar, Kazem Behbehani, Miriam Schmidts, Osama Alsmadi
Exome sequencing is becoming widely popular and affordable, making it one of the most desirable methods for the identification of rare genetic variants for clinical diagnosis. Here, we report the clinical application of whole exome sequencing for the ultimate diagnosis of a ciliary chondrodysplasia case presented with an initial clinical diagnosis of Asphyxiating Thoracic Dystrophy (ATD, Jeune Syndrome). We have identified a novel homozygous missense mutation in WDR35 (c.206G > A), a gene previously associated with Sensenbrenner Syndrome, Ellis-van Creveld syndrome and Short-rib polydactyly syndrome type V...
September 1, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28868271/prenatal-diagnosis-of-mosaic-tetrasomy-18p-in-a-case-without-sonographic-abnormalities
#3
Javad Karimzad Hagh, Thomas Liehr, Hamid Ghaedi, Mir Majid Mossalaeie, Shohreh Alimohammadi, Faegheh Inanloo Hajiloo, Zahra Moeini, Sadaf Sarabi, Davood Zare-Abdollahi
Small supernumerary marker chromosomes (sSMC) are still a major problem in clinical cytogenetics as they cannot be identified or characterized unambiguously by conventional cytogenetics alone. On the other hand, and perhaps more importantly in prenatal settings, there is a challenging situation for counseling how to predict the risk for an abnormal phenotype, especially in cases with a de novo sSMC. Here we report on the prenatal diagnosis of a mosaic tetrasomy 18p due to presence of an sSMC in a fetus without abnormal sonographic signs...
2017: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/28855715/santos-syndrome-is-caused-by-mutation-in-the-wnt7a-gene
#4
Leandro U Alves, Silvana Santos, Camila M Musso, Suzana Am Ezquina, John M Opitz, Fernando Kok, Paulo A Otto, Regina C Mingroni-Netto
We have recently described a family with a condition (Santos syndrome (SS; MIM 613005)) characterized by fibular agenesis/hypoplasia, hypoplastic femora and grossly malformed/deformed clubfeet with severe oligodactyly, ungual hypoplasia/anonychia, sometimes associated with mild brachydactyly and occasional pre-axial polydactyly. Autosomal dominant inheritance with incomplete penetrance was suggested, but autosomal recessive inheritance could not be ruled out, due to the high frequency of consanguineous matings in the region where the family lived...
August 31, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28836344/insights-on-the-role-of-hox-genes-in-the-emergence-of-the-pentadactyl-ground-state
#5
REVIEW
Yacine Kherdjemil, Marie Kmita
Tetrapods are characterized by the presence of digits at the distal end of their limbs, which have emerged during the transition from fins to limbs. While variations in digit number are observed in extant tetrapods, most have five digits per limb and divergence from this pentadactyl ground state is always a reduction in digit number. Paleontological data revealed that stem-group tetrapods were polydactylous indicating that the evolution from fish fin to modern tetrapod limbs involved two major transitions; the emergence of digits and the shift from polydactyly to pentadactyly...
August 24, 2017: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/28826948/digit-like-bony-anomaly-of-the-hindfoot-a-case-report
#6
Anna-Kathrin Leucht, Martin Wiewiorski
We report the case of an asymptomatic digit-like bony anomaly located on the plantar aspect of the calcaneus, which was incidentally found on radiographs of a 50-year-old male with a tibial shaft fracture. To the best of our knowledge, this is the first description of such an anomaly in the foot. The differential diagnosis includes accessory ossicles, polydactyly, heel spur, heterotopic ossification, osteochondroma, and pelvic digits.
August 18, 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/28822893/on-top-and-side-to-side-plasties-for-thumb-polydactyly
#7
Noha M Al-Qattan, Mohammad M Al-Qattan
INTRODUCTION: "On-top" and "side-to-side" plasties are techniques used for treating thumb duplications in which one thumb is adequate proximally and the other thumb contains a better pulp and nail distally. The detailed functional results of these techniques have not been reported in the literature. We report on two cases. PRESENTATION OF CASES: The first case had Wassel type VI duplication. The ulnar duplicate had a functioning interphalangeal joint and the radial duplicate had a functioning carpometacarpal joint...
August 8, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28820841/oblique-osteotomy-for-the-correction-of-the-zigzag-deformity-of-wassel-type-iv-polydactyly
#8
Byung Jun Kim, Jun Ho Choi, Sung Tack Kwon
BACKGROUND: Surgical treatment of the Wassel type IV polydactyly of the thumb is technically challenging, especially when it has a diamond-shape or zigzag deformity. However, we obtained good operative results by performing oblique osteotomy with autologous fat graft in 30 patients with zigzag deformity polydactyly. METHODS: Following removal of the radial-sided extra digit, the radially-deviated distal phalanx (DP) was corrected by performing oblique osteotomy at the proximal phalanx (PP)...
August 8, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28815892/preaxial-polydactyly-in-an-individual-with-wiedemann-steiner-syndrome-caused-by-a-novel-nonsense-mutation-in-kmt2a
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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...
October 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28710291/two-types-of-etiological-mutation-in-the-limb-specific-enhancer-of-shh
#15
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...
September 7, 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
#16
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 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 immunohistochemistry was performed on polydactyly and adult cadaveric nail units, and on hair follicles in scalp nevus sebaceous 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
#17
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
#18
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
#19
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
#20
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
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