A 23 years old primi presented with baby with Holt-Oram syndrome, also called as heart hand syndrome.
Which is an autosomal dominant syndrome with almost 50% recurrence rate.
This disease usually occurs due to mutations in the transcription factor TBX5, which is important in the development of both the heart and upper limbs.
This baby was around 20 weeks with absence of radius of right upper limb and hypo plastic heart.
Which is an autosomal dominant syndrome with almost 50% recurrence rate.
This disease usually occurs due to mutations in the transcription factor TBX5, which is important in the development of both the heart and upper limbs.
This baby was around 20 weeks with absence of radius of right upper limb and hypo plastic heart.
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