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https://www.readbyqxmd.com/read/28086757/a-combination-of-genetic-and-biochemical-analyses-for-the-diagnosis-of-pi3k-akt-mtor-pathway-associated-megalencephaly
#1
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/28081373/loss-of-function-of-evc2-in-dental-mesenchyme-leads-to-hypomorphic-enamel
#2
H Zhang, H Takeda, T Tsuji, N Kamiya, T Kunieda, Y Mochida, Y Mishina
Ellis-van Creveld (EvC) syndrome is an autosomal-recessive skeletal dysplasia, characterized by short stature and postaxial polydactyly. A series of dental abnormalities, including hypomorphic enamel formation, has been reported in patients with EvC. Despite previous studies that attempted to uncover the mechanism leading to abnormal tooth development, little is known regarding how hypomorphic enamel is formed in patients with EvC. In the current study, using Evc2/ Limbin mutant mice we recently generated, we analyzed enamel formation in the mouse incisor...
December 1, 2016: Journal of Dental Research
https://www.readbyqxmd.com/read/28059850/jejunal-atresia-and-unilateral-postaxial-polydactyly-second-report-of-a-rare-association
#3
Patricia Miranda, Anne Slavotinek
No abstract text is available yet for this article.
January 4, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28035386/microduplication-of-7q36-3-encompassing-the-shh-long%C3%A2-range-regulator-zrs-in-a-patient-with-triphalangeal-thumb%C3%A2-polysyndactyly-syndrome-and-congenital-heart-disease
#4
Zhenghua Liu, Ni Yin, Lianghui Gong, Zhiping Tan, Bangliang Yin, Yifeng Yang, Cheng Luo
Triphalangeal thumb‑polysyndactyly syndrome (TPT‑PS) is an autosomal dominant disorder with complete penetrance and a variable expression consisting of opposable triphalangeal thumbs, duplication of the distal thumb phalanx, pre‑axial polydactyly and duplication of the big toes (hallux). The causative gene of TPT‑PS has been mapped to 7q36.3. Sonic hedgehog (SHH) expressed in the zone of polarizing activity (ZPA) has an important role in defining the anterior‑posterior axis and numbers of digits in limb bud development...
February 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28035313/rare-case-of-tibial-hemimelia-preaxial-polydactyly-and-club-foot
#5
Guinevere Granite, John E Herzenberg, Ronald Wade
A seven-month old female presented with left tibial hemimelia (or congenital tibial aplasia; Weber type VIIb, Jones et al type 1a), seven-toed preaxial polydactyly, and severe club foot (congenital talipes equinovarus). Definitive amputation surgery disarticulated the lower limb at the knee. This case report describes the anatomical findings of a systematic post-amputation examination of the lower limb's superficial dissection, X-rays, and computed tomography (CT) scans. From the X-rays and CT scans, we found curved and overlapping preaxial supernumerary toes, hypoplastic first metatarsal, lack of middle and distal phalanges in one supernumerary toe, three tarsal bones, hypoplastic middle phalanx and no distal phalanx for fourth toe, and no middle or distal phalanges for fifth toe...
December 16, 2016: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/28027321/elevated-fibroblast-growth-factor-signaling-is-critical-for-the-pathogenesis-of-the-dwarfism-in-evc2-limbin-mutant-mice
#6
Honghao Zhang, Nobuhiro Kamiya, Takehito Tsuji, Haruko Takeda, Greg Scott, Sudha Rajderkar, Manas K Ray, Yoshiyuki Mochida, Benjamin Allen, Veronique Lefebvre, Irene H Hung, David M Ornitz, Tetsuo Kunieda, Yuji Mishina
Ellis-van Creveld (EvC) syndrome is a skeletal dysplasia, characterized by short limbs, postaxial polydactyly, and dental abnormalities. EvC syndrome is also categorized as a ciliopathy because of ciliary localization of proteins encoded by the two causative genes, EVC and EVC2 (aka LIMBIN). While recent studies demonstrated important roles for EVC/EVC2 in Hedgehog signaling, there is still little known about the pathophysiological mechanisms underlying the skeletal dysplasia features of EvC patients, and in particular why limb development is affected, but not other aspects of organogenesis that also require Hedgehog signaling...
December 2016: PLoS Genetics
https://www.readbyqxmd.com/read/28027268/reply-office-based-postaxial-polydactyly-excision-in-neonates-infants-and-children
#7
Christopher L Carpenter, Trajan A Cuellar, Michael T Friel
No abstract text is available yet for this article.
January 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/27998989/inpp5e-regulates-phosphoinositide-dependent-cilia-transition-zone-function
#8
Jennifer M Dyson, Sarah E Conduit, Sandra J Feeney, Sandra Hakim, Tia DiTommaso, Alex J Fulcher, Absorn Sriratana, Georg Ramm, Kristy A Horan, Rajendra Gurung, Carol Wicking, Ian Smyth, Christina A Mitchell
Human ciliopathies, including Joubert syndrome (JBTS), arise from cilia dysfunction. The inositol polyphosphate 5-phosphatase INPP5E localizes to cilia and is mutated in JBTS. Murine Inpp5e ablation is embryonically lethal and recapitulates JBTS, including neural tube defects and polydactyly; however, the underlying defects in cilia signaling and the function of INPP5E at cilia are still emerging. We report Inpp5e(-/-) embryos exhibit aberrant Hedgehog-dependent patterning with reduced Hedgehog signaling. Using mouse genetics, we show increasing Hedgehog signaling via Smoothened M2 expression rescues some Inpp5e(-/-) ciliopathy phenotypes and "normalizes" Hedgehog signaling...
January 2, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/27992982/-prevalence-of-birth-defects-in-risaralda-2010-2013
#9
Gloria Liliana Porras-Hurtado, Olga Mercedes León-Castañeda, Jaime Molano-Hurtado, Sandra Lorena Quiceno, Harry Pachajoa, Juan José Montoya
INTRODUCTION: The data regarding birth defects at local levels in developing countries like Colombia are scarce. OBJECTIVE: To describe the profile of congenital abnormalities in the province of Risaralda, Colombia. MATERIALS AND METHODS: We included the information on infants with structural and functional abnormalities at birth between June, 2010, and December, 2013, from records of the Instituto Nacional de Salud, and compared it with those of children born in the same period in a local clinic participating in the Collaborative Study of Congenital Malformations...
December 1, 2016: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/27984625/-progress-of-research-on-the-pathogenesis-of-obesity-in-bardet-biedl-syndrome
#10
Hongdan Sheng, Zongli Wang, Tao Shen
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disease characterized by retinopathy, obesity, and polydactyly. So far 21 candidate genes have been discovered, and mutations of such genes can all cause the BBS phenotype. As one of the main features of the disease, the obesity in BBS has been associated with leptin resistance and abnormal adipogenesis. However, its molecular etiology is not yet completely clear. Here the molecular mechanism of BBS-associated obesity is reviewed.
December 10, 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27925158/mutations-in-dync2h1-the-cytoplasmic-dynein-2-heavy-chain-1-motor-protein-gene-cause-short-rib-polydactyly-type-i-saldino-noonan-type
#11
Nora Badiner, Stephanie Paige Taylor, Kimberly Forlenza, Ralph S Lachman, Michael Bamshad, Deborah Nickerson, Daniel H Cohn, Deborah Krakow
The short-rib polydactyly syndromes (SRPS) are autosomal recessively inherited, genetically heterogeneous skeletal ciliopathies. SRPS phenotypes were historically categorized as types I-IV, with type I first delineated by Saldino and Noonan in 1972. Characteristic findings among all forms of SRP include short horizontal ribs, short limbs and polydactyly. The SRP type I phenotype is characterized by a very small thorax, extreme micromelia, very short, poorly mineralized long bones, and multiple organ system anomalies...
December 7, 2016: Clinical Genetics
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
#12
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/27910230/an-unusual-presentation-of-postaxial-polydactyly-of-the-foot
#13
Daniel López-López, Ricardo Becerro-de-Bengoa-Vallejo, Marta Elena Losa-Iglesias, Adolfo Laureano Bautista Casasnovas
A 6-month-old Caucasian baby is described with a postaxial polydactyly of the letf foot. Radiographic examination revealed the accessory digit was composed of soft tissue, some with a tiny osseous element, originated from around the metatarsophalangeal joint, defined by floating type (FT). The parents had consistent difficulty putting shoes. We encountered an exceedingly rare presentation of FT, to our inspection, had neither been previously related in published studies. To the best of our knowledge, this represents the unusual case of congenital deformity lesion on the left foot to be reported in the medical literature...
December 2, 2016: International Wound Journal
https://www.readbyqxmd.com/read/27895541/the-duplicated-thumb-a-review
#14
REVIEW
Renae D Van Wyhe, Jeffrey G Trost, John C Koshy, William C Pederson
Preaxial polydactyly is a common, often sporadic, congenital anomaly that must be addressed surgically early in life. Ideally, the surgeon seeks to accomplish three goals: construction of a thumb that is adequate in size, preservation of pinch function, and reconstruction of all components in one procedure. Although each case is unique, several classification systems attempt to describe the various types. In this article, the authors discuss the various classification systems, procedures, and outcomes after surgery for pediatric thumb duplication...
November 2016: Seminars in Plastic Surgery
https://www.readbyqxmd.com/read/27885298/klippel-trenaunay-syndrome-a-case-report
#15
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
#16
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/27874174/compound-heterozygous-mutations-in-the-ift140-gene-cause-opitz-trigonocephaly-c-syndrome-in-a-patient-with-typical-features-of-a-ciliopathy
#17
Christian Peña-Padilla, Christian R Marshall, Susan Walker, Stephen W Scherer, Gerónimo Tavares-Macías, Gladys Razo-Jiménez, Lucina Bobadilla-Morales, Elizabeth Acosta-Fernández, Alfredo Corona-Rivera, Roberto Mendoza-Londono, Jorge Román Corona-Rivera
We report on an infant with Opitz trigonocephaly C syndrome (OTCS), who also had manifestations of ciliopathy, including short ribs (non-asphyxiating), trident acetabular roofs, postaxial polydactyly cone-shaped epiphyses, and dysplasia of the renal, hepatic and pancreatic tissues. To investigate the molecular cause, we used an exome sequencing strategy followed by Sanger sequencing. Two rare variants, both predicted to result in loss of functional protein, were identified in the IFT140 gene; a substitution at the splice donor site of exon 24 (c...
November 22, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27853335/bardet-biedl-syndrome-with-end-stage-renal-disease
#18
Rajendrakumar Parakh, Dhananjaya Matapadi Nairy
Bardet-Biedl syndrome (BBS) is one of the rare autosomal recessive disorders that affect multiple organs of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. We present a case of BBS with features of hypogonadism and features such as marked central obesity, retinitis pigmentosa, polydactyly, renal abnormalities and mental retardation, along with a brief review of the literature. The patient had end stage renal disease and managed with dialysis...
November 2016: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/27833294/anterior-urethral-diverticulum-a-rare-presentation
#19
Annavarupu Gopalkrishna, Somendra Mohan Sharma, B Ananda
Congenital anomalies of the urogenital tract are the most common anomalies found in the foetus, neonates and infants, but anterior urethral valves and diverticula are rare. Here, we present a case with congenital anterior urethral diverticulum associated with patent ductus arteriosus and polydactyly.
May 2016: Indian Journal of Plastic Surgery: Official Publication of the Association of Plastic Surgeons of India
https://www.readbyqxmd.com/read/27833283/congenital-hand-anomalies-in-upper-egypt
#20
Tarek Abulezz, Mohamed Talaat, Asem Elsani, Karam Allam
BACKGROUND: Congenital hand anomalies are numerous and markedly variant. Their significance is attributed to the frequent occurrence and their serious social, psychological and functional impacts on patient's life. PATIENTS AND METHODS: This is a follow-up study of 64 patients with hand anomalies of variable severity. All patients were presented to Plastic Surgery Department of Sohag University Hospital in a period of 24 months. RESULTS: This study revealed that failure of differentiation and duplication deformities were the most frequent, with polydactyly was the most common anomaly encountered...
May 2016: Indian Journal of Plastic Surgery: Official Publication of the Association of Plastic Surgeons of India
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