Tall Stature ✅ Flashcards
What is the most common cause of tall statue?
Familial tall stature
What does the increased likelihood that tall parents will produce tall children reflect?
The polygenetic inheritance of height
What should be considered when once parent is exceptionally tall?
The possibility of an autosomal dominant cause of tall stature
What management is required for familial tall stature?
Usually just explanation and reassurance
What management of familial tall stature can be used in rare circumstances?
- Suppression of final height by early induction of puberty
- Surgical epiphysiodesis to fuse the growth plates
How can early induction of puberty to suppress final height be achieved?
High dose oestrogen
How does early induction of puberty suppress final height?
It limits the pre-pubertal component of growth
Why has the use of early induction of puberty to suppress final height reduced?
Due to concerns about adverse longer term effects on fertility
What are the syndromic causes of tall statue?
- Marfan’s syndrome
- Sotos syndrome
- Beckwith-Wiedemann syndrome
What is the inheritance of Marfan’s syndrome?
Autosomal dominant
What is Marfan’s syndrome caused by?
Mutations in FBN1 gene
What does the FBN-1 gene encode?
The glycoprotein fibrillin-1
What does fibrillin-1 do?
Forms fibres in connective tissue
What are many of the features of Marfan’s syndrome linked o?
Connective tissue defects
What are the features of Marfan’s syndrome?
- Aortic root dilatation
- Mitral valve prolapse
- Ligmentous laxity
- Lens subluxation
- Scoliosis
- Striae
