Melnick-Needles, syndrome
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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