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Holt-Oram syndrome.
Rom J Morphol Embryol 2007; 48(1):67-70RJ

Abstract

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+Show Affiliations

Department of Endocrinology, University of Medicine and Pharmacy of Craiova, Romania. corinalich@gmail.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

17502954

Citation

Lichiardopol, Corina, et al. "Holt-Oram Syndrome." Romanian Journal of Morphology and Embryology = Revue Roumaine De Morphologie Et Embryologie, vol. 48, no. 1, 2007, pp. 67-70.
Lichiardopol C, Militaru C, Popescu B, et al. Holt-Oram syndrome. Rom J Morphol Embryol. 2007;48(1):67-70.
Lichiardopol, C., Militaru, C., Popescu, B., Hila, G., & Mixich, F. (2007). Holt-Oram syndrome. Romanian Journal of Morphology and Embryology = Revue Roumaine De Morphologie Et Embryologie, 48(1), pp. 67-70.
Lichiardopol C, et al. Holt-Oram Syndrome. Rom J Morphol Embryol. 2007;48(1):67-70. PubMed PMID: 17502954.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Holt-Oram syndrome. AU - Lichiardopol,Corina, AU - Militaru,C, AU - Popescu,B, AU - Hila,G, AU - Mixich,F, PY - 2007/5/16/pubmed PY - 2007/7/28/medline PY - 2007/5/16/entrez SP - 67 EP - 70 JF - Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie JO - Rom J Morphol Embryol VL - 48 IS - 1 N2 - 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. SN - 1220-0522 UR - https://www.unboundmedicine.com/medline/citation/17502954/Holt_Oram_syndrome_ L2 - http://www.rjme.ro/RJME/resources/files/480107067070.pdf DB - PRIME DP - Unbound Medicine ER -