Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations.

AlBakri, Amani

Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations. [electronic resource] - Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus Dec 2015 - 577-9 p. digital

Publication Type: Case Reports; Journal Article

1528-3933

10.1016/j.jaapos.2015.08.006 doi


Blepharoptosis--congenital
Child
Child, Preschool
Consanguinity
Female
Genes, Recessive
Humans
Male
Malignant Hyperthermia--diagnosis
Mutation
Radiography
Ryanodine Receptor Calcium Release Channel--genetics
Sacrum--abnormalities
Scoliosis--diagnostic imaging
Siblings