Syndromes

Question 1

Rubinstein Tabyi Syndrome

Answer 1

1. M.D.
2. Epilepsy
3. Microcephaly and Short
4. Facial Abnormality
   Eye: Ptosis, Cataract, Coloboma, Slant palpebral fissure, Strabismus
   Maxilla hypoplasia
   Long nasal septum
   Low set ears
5. Hands and feet - Big thumbs and toes
6. CVS - VSD and PDA
   UG abnormality - developmental anomaly of kidneys
   Cryptorchism
   Risk of infections