| Ellis-van Creveld syndrome. | |
| | |
MedLine Citation:
|
PMID: 17392984 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Ellis-van Creveld syndrome is a rare autosomal recessive disorder caused by mutations in the EVC and EVC2 gene (4p16), characterized by chondrodystrophy, postaxial polydactyly, ectodermal dysplasia and cardiac anomalies. We present the case of a 24 years old female patient with unaffected parents and an affected sister, with a personal history of surgically corrected postaxial polydactyly of both hands and atriventricular canal. Clinical features were: a marked acromesomelic short stature (135 cm height), narrow thorax, genu valgum, club feet, brachydactyly, malposed toes, hypoplastic nails and teeth, diffuse alopecia, atrioventricular canal, hypoplastic mammary glands and a small goiter. Radiologic evaluation revealed short metacarpals and phalanges, capitat and hamat fusion on the left, left ulnar epiphysis with areas of osteolysis and osteocondensation, genu valgum, short fibulae, narrow thorax, cardiac enlargement with hilar congestion. Echocardiogram showed absence of the atrial sept and the basal portion of the ventricular sept and electrochardiogram--right bundle branch block, left anterior fascicular block and left ventricular hypertrophy. Free thyroxine, TSH and usual laboratory parameters were in the normal range with exception of ionic calcium which was low (3.8 mg/dL). |
| | |
Authors:
|
Corina Lichiardopol; C Militaru |
Related Documents
:
|
18157974 - Association of uncomplicated electrocardiographic conduction blocks with subsequent car... 8633814 - Transcatheter modification of the atrioventricular node in dogs, using radiofrequency e... 18475164 - Left bundle branch block and cardiovascular morbidity and mortality in hypertensive pat... 2125894 - Influence of ea on the electrical conductance in the marginal area of the acute ischemi... 3745704 - The plasma catecholamine response to ventricular tachycardia induction and external cou... 10080474 - Associations between a polymorphism in the gene encoding glycoprotein iiia and myocardi... |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie Volume: 47 ISSN: 1220-0522 ISO Abbreviation: Rom J Morphol Embryol Publication Date: 2006 |
Date Detail:
|
Created Date: 2007-03-29 Completed Date: 2007-06-05 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9112454 Medline TA: Rom J Morphol Embryol Country: Romania |
Other Details:
|
Languages: eng Pagination: 363-6 Citation Subset: IM |
Affiliation:
|
Department of Endocrinology, University of Medicine and Pharmacy of Craiova, Romania. corinalich@gmail.com |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adult Echocardiography Ellis-Van Creveld Syndrome / pathology* Female Hand / radiography Humans Radiography, Thoracic |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Former and present aspects in upper level of viscero-skull architecture.
Next Document: Skull base tumor invading both cavernous sinuses. Adenoid cystic carcinoma mimicking a meningioma.