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https://www.readbyqxmd.com/read/29799531/-focal-dermal-hypoplasia-goltz-syndrome
#1
Guadalupe X Corona-Guerra, Marisol Ochoa-Apreza
Background: Focal dermal hypoplasia or Goltz syndrome is a rare X-linked dominant inherited genodermatosis, affecting both the ectodermal and mesodermal tissue. Clinical manifestations include skin abnormalities, defects in eyes, teeth, nails, mouth, soft tissues and skeleton. The diagnosis is based on clinical findings and is suspected in individuals with ectodermal abnormalities and characteristic malformations in the extremities. The management is multidisciplinary and, like the prognosis, depends on the specific alterations that each patient presents...
2018: Boletín Médico del Hospital Infantil de México
https://www.readbyqxmd.com/read/29620206/genetic-analysis-of-a-congenital-split%C3%A2-hand-split%C3%A2-foot-malformation-4-pedigree
#2
Xiao Yang, Xinfu Lin, Yaobin Zhu, Jiewei Luo, Genhui Lin
In the present study whole-exome sequencing using the Complete Genomics platform was employed to scan a proband from a split‑hand/split‑foot malformation (SHFM) 4 family. The missense mutation c.728G>A (p.Arg243Gln) in the TP63 gene was revealed to be associated with SHFM. Sanger sequencing confirmed the sequences of the proband and his father. The father was diagnosed with SHFM and harbored a CGG‑to‑CAG mutation in exon 5, which produced a R243Q substitution in the zinc binding site and dimerization site of TP63...
June 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29616174/management-of-severely-atrophic-maxilla-in-ectrodactyly-ectodermal-dysplasia-cleft-syndrome
#3
Adi Rachmiel, Shahar Turgeman, Omri Emodi, Dror Aizenbud, Dekel Shilo
Background: Ectrodactyly ectodermal dysplasia-cleft syndrome is a rare genetic syndrome with an incidence of 1/90,000 live births, characterized by cleft lip and palate, severely hypoplastic maxilla, and hypodontia. Patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome suffer from a severely hypoplastic maxilla that is highly difficult to treat using traditional orthognathic methods. In this study, we propose using distraction osteogenesis to achieve a major advancement while maintaining good stability and minimal relapse...
February 2018: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/29610615/surgical-management-of-facial-features-of-robinow-syndrome-a-case-report
#4
Aida M Mossaad, Moustapha A Abdelrahman, Mostafa A Ibrahim, Hatem H Al Ahmady
BACKGROUND: Robinow Syndrome is an extremely rare genetic disorder characterised by abnormalities in head, face and external genitalia. This disorder exists in dominant pattern with moderate symptoms and recessive pattern with more physical and skeletal abnormalities. It was first introduced by Menihard Robinow in 1969. It was related to chromosome 9q22 ROR2 gene related to bone and cartilage growth aspects. CASE PRESENTATION: A 17-year-old Egyptian male presented to National Research Centre Orodental genetics Clinic with typical features of short stature and facial dysmorphism weighted 50 Kg and measured 150 cm height complaining of facial dis figurement...
March 15, 2018: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29525789/a-novel-porcn-frameshift-mutation-leading-to-focal-dermal-hypoplasia-a-case-report
#5
Ceren D Durmaz, John McGrath, Lu Liu, Halil G Karabulut
Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is a rare, multisystemic, X-linked dominant genodermatosis characterized by defective development of mesodermal and ectodermal tissues. Major clinical features of the disorder are skin manifestations, skeletal defects, and developmental eye abnormalities. FDH is caused by heterozygous mutations in the PORCN gene located at Xp11.23, and 90% of individuals with FDH are females. Here, we report a female patient with cutaneous changes, multiple eye anomalies, short stature, and ectrodactyly of the right foot...
March 10, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29486400/generation-of-a-transgene-free-induced-pluripotent-stem-cells-line-unipdi002-a-from-oral-mucosa-epithelial-stem-cells-carrying-the-r304q-mutation-in-tp63-gene
#6
Marta Trevisan, Vanessa Barbaro, Silvia Riccetti, Giulia Masi, Luisa Barzon, Patrizia Nespeca, Gualtiero Alvisi, Enzo Di Iorio, Giorgio Palù
Transgene free UNIPDi002-A-human induced pluripotent stem cell (hiPSC) line was generated by Sendai Virus Vectors reprogramming from human oral mucosal epithelial stem cells (hOMESCs) of a patient affected by ectrodactyly-ectodermal dysplasia-clefting (EEC)-syndrome, carrying a mutation in exon 8 of the TP63 gene (R304Q). The UNIPDi002-A-hiPSC line retained the mutation of the parental R304Q-hOMESCs and displayed a normal karyotype. No residual expression of transgenes nor Sendai virus vector sequences were detected in the line at passage 8...
April 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29477592/induced-pluripotent-stem-cells-line-unipdi003-a-from-a-patient-affected-by-eec-syndrome-carrying-the-r279h-mutation-in-tp63-gene
#7
Marta Trevisan, Enzo Di Iorio, Giulia Masi, Silvia Riccetti, Luisa Barzon, Gualtiero Alvisi, Luciana Caenazzo, Vanessa Barbaro, Giorgio Palù
Oral mucosa epithelial stem cells from a patient affected by Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome carrying the R279H mutation in the TP63 gene were reprogrammed into human induced pluripotent stem cells (hiPSCs) with episomal vectors. The generated UNIPDi003-A-hPSC line retained the mutation of the parental cells and showed a normal karyotype upon long term culture. Analysis of residual transgenes expression showed that the episomal vectors were eliminated from the cell line. UNIPDi003-A-hiPSCs expressed the undifferentiated state marker alkaline phosphatase along with a panel of pluripotency markers, and formed embryoid bodies capable of expressing markers belonging to all the three germ layers...
April 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29408907/five-year-outcomes-of-boston-type-i-keratoprosthesis-as-primary-versus-secondary-penetrating-corneal-procedure-in-a-matched-case-control-study
#8
Kai B Kang, Faris I Karas, Ruju Rai, Joelle A Hallak, Joann J Kang, Jose de la Cruz, Maria S Cortina
Despite improved retention and reduced complication rates paving the way for the current expansion of applications and surge in prevalence for the Boston type I Keratoprosthesis (KPro), the most frequent indication for its implantation today remains prior graft failure. The purpose of this study is to evaluate the long-term outcomes of primary KPro and compare to secondary implantation in a matched cohort study. This study included patients who underwent KPro implantation in a single center by two surgeons between July 2008 and October 2014...
2018: PloS One
https://www.readbyqxmd.com/read/29384555/homozygous-sequence-variants-in-the-wnt10b-gene-underlie-split-hand-foot-malformation
#9
Asmat Ullah, Ajab Gul, Muhammad Umair, Irfanullah, Farooq Ahmad, Abdul Aziz, Abdul Wali, Wasim Ahmad
Split-hand/split-foot malformation (SHFM), also known as ectrodactyly is a rare genetic disorder. It is a clinically and genetically heterogeneous group of limb malformations characterized by absence/hypoplasia and/or median cleft of hands and/or feet. To date, seven genes underlying SHFM have been identified. This study described four consanguineous families (A-D) segregating SHFM in an autosomal recessive manner. Linkage in the families was established to chromosome 12p11.1-q13.13 harboring WNT10B gene. Sequence analysis identified a novel homozygous nonsense variant (p...
January 2018: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/29149698/ectrodactyly-in-a-chinese-patient-born-to-a-mother-with-neuromyelitis-optica-spectrum-disorder
#10
Yanyu Chang, Yaqing Shu, Xiaobo Sun, Chengfang Xu, Dan He, Ling Fang, Chen Chen, Xueqiang Hu, Allan Kermode, Wei Qiu
NMOSD develops primarily in women of childbearing age, and several previous studies have shown that the disorder may increase the risk of miscarriage. However, there are no reports, to our knowledge, of fetal malformation, other than neonatal hydrocephalus, related to NMOSD. We report a 30-year-old woman who experienced recurrent neuritis and who was seropositive for AQP4-IgG. She became pregnant, and the fetus was found to have ectrodactyly. Histological analysis of the placenta showed moderate inflammatory infiltration; however, whether fetal malformation in NMOSD is related to inflammation and AQP4-IgG remains to be determined...
January 2018: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29131674/congenital-malformations-resembling-vacterl-association-in-a-golden-retriever
#11
Araceli Gamito-Gómez, Rodrigo Gutierrez-Quintana, Annette Wessmann
A 2 mo old golden retriever presented with malformation of the left thoracic limb and a small circular indentation of the skin in the cranial thoracic spine. Radiographs showed a cleft between the second and fifth metacarpal bones of the left thoracic limb compatible with ectrodactyly and spina bifida affecting T4 and T5 vertebrae. Magnetic resonance imaging of the thoracic spine showed dorsal reposition of the spinal cord and a tract connecting from the dura mater to the skin. No other malformations were detected...
January 2018: Journal of the American Animal Hospital Association
https://www.readbyqxmd.com/read/29130604/expanding-the-phenotypic-spectrum-of-tp63-related-disorders-including-the-first-set-of-monozygotic-twins
#12
Tara Wenger, Dong Li, Margaret H Harr, Wen-Hann Tan, Renata Pellegrino, Zornitza Stark, Hakon Hakonarson, Elizabeth J Bhoj
Individuals with Tumor Protein P63 (TP63)-related disorders are known to present with a range of phenotypic features, including ectrodactyly, ectodermal dysplasia, cleft lip/palate, Rapp-Hodgkin, Hay-Wells, and limb-mammary syndromes. We present six individuals from three families, including a set of monozygotic twins, with pathogenic TP63 variants who had novel clinical findings. The twins were discordant for cleft lip and palate, and the type of hand malformations, but concordant for choanal atresia, and bilateral volar nail...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28977327/siblings-affected-by-ectrodactyly-ectodermal-dysplasia-and-cleft-lip-palate-eec-syndrome-presenting-normal-parents-germline-mosaicism
#13
Rafael Fabiano Machado Rosa, Samir Abou Ghaouche de Moraes, Leonardo Paludo Sulczinski, Filipe Augusto da Silva, Olga Gaio Milner, Silvana Rodrigues Streit Pires, Osvaldo Alfonso Pinto Artigalas, Rosana Cardoso Manique Rosa, Paulo Ricardo Gazzola Zen
OBJECTIVE: EEC is an acronym for an autosomal dominant syndrome clinically characterized by ectrodactyly (E), ectodermal dysplasia (E) and cleft lip/palate (C). Our aim was to describe a rare case of siblings affected by ectrodactyly, ectodermal dysplasia and cleft lip/palate (EEC) syndrome presenting normal parents. CASE DESCRIPTION: The patient was the third son of young and healthy parents. The parents did not present any minor or major anomaly of hands, feet or skin, hair and teeth...
April 2017: Revista Paulista de Pediatria: Orgão Oficial da Sociedade de Pediatria de São Paulo
https://www.readbyqxmd.com/read/28969156/patients-with-congenital-limb-anomaly-show-short-telomere-shutdown-of-telomerase-and-deregulated-expression-of-various-telomere-associated-proteins-in-peripheral-blood-mononuclear-cells-a-case-series
#14
Jayitri Mazumdar, Priyanka Chowdhury, Tunisha Bhattacharya, Badal Chandra Mondal, Utpal Ghosh
Congenital limb anomalies are outcome of improper bone formation during embryonic development when cells divide, differentiate with high rate. So, telomerase activity is essential to maintain telomere length for such highly dividing cells. Here, we report four cases of congenital limb anomalies with detailed structures of limbs along with other clinical manifestations of age less than two years. We compared telomere length, expression of telomerase and telomere-associated genes of Peripheral Blood Mononuclear Cells (PBMC) in patient and four age-matched normal individual...
August 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28825856/the-use-of-variant-maps-to-explore-domain-specific-mutations-of-fgfr1
#15
L A Lansdon, H V Bernabe, N Nidey, J Standley, M J Schnieders, J C Murray
Here we describe the genotype-phenotype correlations of diseases caused by variants in Fibroblast Growth Factor Receptor 1 ( FGFR1) and report a novel, de novo variant in FGFR1 in an individual with multiple congenital anomalies. The proband presented with bilateral cleft lip and palate, malformed auricles, and bilateral ectrodactyly of his hands and feet at birth. He was later diagnosed with diabetes insipidus, spastic quadriplegia, developmental delay, agenesis of the corpus callosum, and enlargement of the third cerebral ventricle...
October 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28694368/ectrodactyly-in-limousin-calves
#16
(no author information available yet)
No abstract text is available yet for this article.
July 7, 2017: Veterinary Record
https://www.readbyqxmd.com/read/28691455/adult-syndrome-dental-features-of-a-very-rare-condition
#17
L Azzi, V Maurino, R Vinci, F Croveri, A Boggio, A Tagliabue, J Silvestre-Rangil
The Acro-Dermato-Ungual-Lacrimal-Tooth syndrome (ADULT syndrome) is one of the rarest ectodermal dysplasias and it is associated with several malformations involving especially the limbs. The most clinical features are the presence of ectrodactyly, syndactyly, hypermelanosis or multiple lentigines, onhycodysplasia, abnormalities in the lacrimal duct, recurrent conjuntivitis, photophobia, mammarian hypoplasia, hypotrichosis and frontal alopecia, hypohydrosis, cutaneous photosensitivity, nasal bridge prominence, exfoliative dermatitis and xerosis...
April 2017: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/28690486/adult-phenotype-and-rs16864880-in-the-tp63-gene-two-new-cases-and-review-of-the-literature
#18
Tânia Kawasaki de Araujo, Elaine Lustosa-Mendes, Ana P Dos Santos, Miriam Coelho Molck, Roberta Mazzariol Volpe-Aquino, Vera L Gil-da-Silva-Lopes
The TP63 gene has been described in 5 overlapping limb malformation disorders, including a rare autosomal dominant ectodermal disorder named acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome. This article describes 2 patients with ectrodactyly and variable features related to ectodermal dysplasia/ADULT syndrome, and the polymorphism rs16864880 in the TP63 gene, which was not present in their parents. The role of this variant in the genesis of this condition is discussed, based upon a review of 40 cases. The results suggested that rs16864880 may not be directly related to ADULT syndrome...
June 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28583501/otorhinolaryngologic-manifestations-of-hartsfield-syndrome-case-series-and-review-of-literature
#19
REVIEW
Jeremie D Oliver, Deanna C Menapace, Shelagh A Cofer
Diagnosis of Hartsfield syndrome includes recognition of three distinct clinical anomalies: holoprosencephaly, ectrodactyly, and bilateral cleft-lip and palate syndrome. A family including three male siblings all affected by Hartsfield syndrome presented to our institution for care. An autosomal dominant variant in Fibroblast Growth Factor Receptor 1 (FGFR1) was identified. This report focuses on otorhinolaryngologic manifestationsof Hartsfield syndrome, previously undescribed, including midline defects of holoprosencephaly, bilateral cleft-lip and palate, retrognathia, gastroesophageal reflux disease, external ear anomalies, eustachian tube dysfunction, and midface abnormalities, in addition to multidisciplinary, long-term management strategies...
July 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28513979/identification-of-a-de-novo-variant-in-chuk-in-a-patient-with-an-eec-aec-syndrome-like-phenotype-and-hypogammaglobulinemia
#20
Kriti D Khandelwal, Charlotte W Ockeloen, Hanka Venselaar, Cécile Boulanger, Bénédicte Brichard, Etienne Sokal, Rolph Pfundt, Tuula Rinne, Ellen van Beusekom, Marjon Bloemen, Gerrit Vriend, Nicole Revencu, Carine E L Carels, Hans van Bokhoven, Huiqing Zhou
The cardinal features of Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate (EEC), and Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndromes are ectodermal dysplasia (ED), orofacial clefting, and limb anomalies. EEC and AEC are caused by heterozygous mutations in the transcription factor p63 encoded by TP63. Here, we report a patient with an EEC/AEC syndrome-like phenotype, including ankyloblepharon, ED, cleft palate, ectrodactyly, syndactyly, additional hypogammaglobulinemia, and growth delay...
May 17, 2017: American Journal of Medical Genetics. Part A
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