Document Detail


Holt-Oram syndrome.
MedLine Citation:
PMID:  17502954     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The Holt-Oram syndrome or atriodigital dysplasia is an autosomal dominant disorder with near complete penetrance and variable expression, caused by mutations of the TBX5 gene (12q24.1), affecting one in 100 000 live births. 60% of cases are familial and 40% sporadic. We present the case of a 24 years old male patient with a personal history of bilateral coxa vara surgically corrected on the right at the age of 8 years, complicated by osteochondritis, short stature (160 cm), underweight (37 kg, BMI 14.45 kg/cm(2)), triangular face, micrognathia, down slanting palpebral fissures, hypertelorism, low set ears, scoliosis, narrow shoulders, shortened left arm, left thumb agenesia, limited supination, abnormal toes, hypoplastic muscles, atrial septal defect ostium secundum type, incomplete right bundle branch block, hypoacusia and normal intelligence.
Authors:
Corina Lichiardopol; C Militaru; B Popescu; G Hila; F Mixich
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie     Volume:  48     ISSN:  1220-0522     ISO Abbreviation:  Rom J Morphol Embryol     Publication Date:  2007  
Date Detail:
Created Date:  2007-05-15     Completed Date:  2007-07-27     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9112454     Medline TA:  Rom J Morphol Embryol     Country:  Romania    
Other Details:
Languages:  eng     Pagination:  67-70     Citation Subset:  IM    
Affiliation:
Department of Endocrinology, University of Medicine and Pharmacy of Craiova, Romania. corinalich@gmail.com
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Adult
Heart Defects, Congenital / genetics*
Humans
Male
Mutation
Syndrome
T-Box Domain Proteins / genetics*
Upper Extremity Deformities, Congenital / genetics*
Chemical
Reg. No./Substance:
0/T-Box Domain Proteins; 0/T-box transcription factor 5

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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