In:
Pakistan Armed Forces Medical Journal, Army Medical College, Vol. 72, No. SUPPL-3 ( 2022-11-23), p. S645-47
Abstract:
Holt Oram Syndrome (HOS) falls in rare prevalence category with probability of 0.7 in 100,000 live births. It is a rare autosomal dominant multiple malformation syndrome characterized by abnormalities affecting hands, wrists, arms,congenital heart defects and/or conduction problems. Genetic mutations observed in TBX5 gene is attributed as the main cause of HOS. Our patient in his late 40s was diagnosed with Holt Oram Syndrome. He presented with typical conditions of congenital heart abnormalities (ASD) and upper limb malformations.
Type of Medium:
Online Resource
ISSN:
2411-8842
,
0030-9648
DOI:
10.51253/pafmj.v72iSUPPL-3.9573
Language:
Unknown
Publisher:
Army Medical College
Publication Date:
2022
detail.hit.zdb_id:
2923742-7