Congenital ptosis

Congenital ptosis is characterized by superior eyelid drop present at birth.

Scoliosis

The presence of an abnormal lateral curvature of the spine.


Total: 2

                       


(per page)
PMID (PMCID)
26691049
 MIXED_SAMPLE Child
Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations.
AlBakri A, Karaoui M, Alkuraya FS, Khan AO.
J AAPOS. 2015;19(6):577-9.
We report 2 siblings with congenital ptosis and scoliosis who were considered for ptosis surgery but were found to harbor underlying recessive RYR1 mutations.
26691049
 MIXED_SAMPLE Child
Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations.
AlBakri A, Karaoui M, Alkuraya FS, Khan AO.
J AAPOS. 2015;19(6):577-9.
Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations.