ABSTRACT
Xeroderma pigmentosum–Cockayne syndrome (XP–CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, spasticity, short stature, and hypogonadism. XP–CS does not include skeletal involvement, the facial phenotype of CS, or CNS demyelination and calcifications. We present a rare patient whose genome probably harbored a specific combination of mutations producing a rare double syndrome of XP–CS, with facial phenotype of CS, and CNS demyelination.
Subject(s)
Child , /epidemiology , /genetics , Demyelinating Diseases/epidemiology , Demyelinating Diseases/genetics , Facial Asymmetry/diagnosis , Facial Asymmetry/genetics , Female , Humans , Xeroderma Pigmentosum/epidemiology , Xeroderma Pigmentosum/geneticsABSTRACT
Ortner syndrome or cardiovocal syndrome refers to hoarseness of voice due to recurrent laryngeal nerve paralysis secondary to cardiovascular disease. We present three cases of Ortner syndrome in infants with congenital heart disease. All the three cases had moderate to severe pulmonary hypertension with moderately dilated pulmonary artery. We believe that the dilated pulmonary artery caused compression of the left recurrent laryngeal nerve resulting in hoarseness of voice.