Holt-Oram syndrome

Holt-Oram syndrome (HOS) is an autosomal dominant syndrome that results in congenital heart defects and upper limb anomalies: 

Genetics 

A large proportion of affected individuals have mutations in the TBX5 gene. It is thought to carry an autosomal dominant inheritance with full penetration but variable expression. However between 50 and 80% of cases may be due to new mutations.

Antenatal ultrasound

The diagnosis can be suspected amongst the differential if upper limb abnormalities are noted along with heart defects on fetal ultrasound. The limb defects can be asymmetrical.

General considerations include

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Article Information

rID: 7353
System: Chest
Synonyms or Alternate Spellings:
  • Holt Oram syndrome
  • Holt-Oram syndrome
  • Holt-Oram syndrome (HOS)

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Cases and Figures

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    Case 2: with hooked lateral clavicles
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    Case 2: with absent thumb
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    Case 2: with hypoplastic radius
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