Macrocephaly-intellectual deficit-autism, syndrome
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Rare: < 1.106. Autosomal dominant transmission of a mutation of the PTEN gene (10q23.31).
Association of:
- macrocephaly (+ 2.5 to + 8 SD)
- facial dysmorphisma: broad forehead (prominent frontal bossing), hypertelorism, midface hypoplasia (flat facies), narrow biparietal diameter, long philtrum
- delay in psychomotor development leading to autistic behavior or mental retardation
- primary immunodeficiency (B or T lymphocytes): risk of opportunistic infections, increased tumoral risk.
Another mutation of the same gene causes Cowden syndrome (see this term)
Anesthetic Implications:
risk of difficult ventilation by mask; behavioral disorder, immunodeficiency.
References :
Updated: April 2019