Errington (“Dick”) Ellis
Ontology highlight
ABSTRACT:
SUBMITTER: Craft A
PROVIDER: S-EPMC1569961 | biostudies-literature |
REPOSITORIES: biostudies-literature
Similar Datasets
Project description: Not available
| S-EPMC1557964 | biostudies-literature
Project description: Not available
| S-EPMC1601975 | biostudies-literature
Project description:Chromatin enriched by immunopurification with antibodies against the Drosophila transcription factor spotted dick compared with pre immune sera on a cDNA microarray Keywords: parallel sample
2005-05-07 | GSE2632 | GEO
Project description:Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Prenatal abnormalities (that may be detected by ultrasound examination) include narrow thorax, shortening of long bones, hexadactyly and cardiac defects. After birth, cardinal features are short stature, short ribs, polydactyly, and dysplastic fingernails and teeth. Heart defects, especially abnormalities of atrial septation, occur in about 60% of cases. Cognitive and motor development is normal. This rare condition is inherited as an autosomal recessive trait with variable expression. Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative. EVC belongs to the short rib-polydactyly group (SRP) and these SRPs, especially type III (Verma-Naumoff syndrome), are discussed in the prenatal differential diagnosis. Postnatally, the essential differential diagnoses include Jeune dystrophy, McKusick-Kaufman syndrome and Weyers syndrome. The management of EVC is multidisciplinary. Management during the neonatal period is mostly symptomatic, involving treatment of the respiratory distress due to narrow chest and heart failure. Orthopedic follow-up is required to manage the bones deformities. Professional dental care should be considered for management of the oral manifestations. Prognosis is linked to the respiratory difficulties in the first months of life due to thoracic narrowness and possible heart defects. Prognosis of the final body height is difficult to predict.
| S-EPMC1891277 | biostudies-literature
Project description:Chromatin enriched by immunopurification with antibodies against the Drosophila transcription factor spotted dick compared with pre immune sera on a cDNA microarray
2010-06-10 | E-GEOD-2632 | biostudies-arrayexpress
Project description:Ellis-van Creveld syndrome (EVC) is a rare disorder (the incidence is estimated at around 7/1,000,000) characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac anomalies. Sagittal synostosis is characterized by a dolichocephalic head shape resulting from premature fusion of the sagittal suture. Both are rare disorders, which have never been reported together. We present a case of EVC and sagittal synostosis. We report the clinical features of a Hispanic boy with EVC and sagittal craniosynostosis who underwent cranial vault remodeling. The presentation of this patient is gone over in detail. A never before reported case of EVC and sagittal synostosis is presented in detail.
| S-EPMC4428735 | biostudies-other
Project description:Ellis-van Creveld syndrome is a rare autosomal-recessive disorder characterized by short limbs, post-axial polydactyly, ectodermal dysplasia, edentulous mandibular incisor region, absence of mucobuccal fold, congenitally missing teeth, slight serrations of the alveolar ridge and multiple small alveolar notches. The clinical report not only describes the classical oral and dental manifestations of Ellis-van Creveld syndrome but also presents unusual findings such as single-rooted and funnel-shaped primary first molars, single conical roots of primary second molars and taurodontisum, which must be considered in the differential diagnostic criteria to avoid misdiagnosis of syndromes. The article also discusses the differential diagnosis and preventive and therapeutic oral health care for these patients. The management of Ellis-van Creveld syndrome is multidisciplinary and, therefore, the oral health care provider should get updated with latest knowledge for timely referral to prevent the patient from further complications of heart defect and bony deformity.
| S-EPMC3354796 | biostudies-literature
Project description:Drosophila S2 cells treated with either GFP or spottes-dick dsRNA and incubated for 5 days. There are three replicates for each condition. Keywords = Spotted-dick Keywords: other
2005-05-06 | GSE2623 | GEO
Project description:Chondro-ectodermal dysplasia is a rare autosomal recessive disorder which affects the ectodermal, mesodermal and endodermal derivatives. There are numerous conditions reported under this title which include Ellis van Creveld syndrome. The oral findings include multiple gingivolabial frena, dental abnormality, malocclusion and hypodontia. The diagnosis of Ellis van Creveld syndrome is based on the presence of oral mucosal changes like notching of the lower alveolus, fusion of the upper lip and gingival mucosa; dental changes like oligodontia, conical shape of anterior teeth and occasional presence of neonatal teeth. The authors report a rare case of Ellis van Creveld syndrome occurring among two siblings with oral mucosal, dental and skeletal abnormalities.
| S-EPMC3207784 | biostudies-literature