Melnick-Needles, syndrome

[MIM 309 350]

Rare. Dominant X-linked transmission of mutations of the filamin A (FLNA) gene. Generalized bone dysplasia with curvature of long bones, sclerosis of the bones of the base of the skull, ribbon-shaped ribs. The eyes are prominent; micrognathia. Mental development is normal.

Phenotype close tothe oto-palato-digital syndromes 1 and 2.


Anesthetic implications:

difficult intubation; eye protection.


References :


Updated: January 2019