Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Holt-Oram syndrome. 1750 54