DR Medhat MRCP

Fragile X syndrome :
- Trinucleotide repeat disorder (CGG)
• Features :
مهم جدا 1) Learning difficulties
2) Large ears
3) Macroorchidism
4) Prognathism
5) Speech delays
6) Prominent forehead
7) Double-jointedness
8) Autism
9) Occasional self-mutilation.
10) The face is typically long and narrow, with a high arched palate and large ears.
11) OTHERS :
Hyperextensible joints
Hypotonia, and
Heart problems, including mitral valve prolapse.
12) In post pubertal males, abnormally large testes are a distinctive feature.
13) The following can occur In young children:
Delayed motor development
Hyperactivity
Behavioural problems
Toe walking, and
Occasional seizures
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