ABSTRACT
Stickler syndrome is an autosomal dominant, genetic connective tissue disorder characterized by ocular, orofacial, auditory, and skeletal anomalies. The diagnosis of Stickler syndrome is often missed in the newborn period and diagnosed as simply Pierre Robin sequence. For these patients, complications and disabilities could be lessened by further analysis of the family history.Neonatal caregivers are responsible for the immediate care of the newborn with Pierre Robin sequence. The prudent healthcare profession will explore the origin of the condition to provide optimal comprehensive care to the infant and family. This article reviews the physical findings of Stickler syndrome including differentiation between similar syndromes. A systematic review of physical findings is included along with treatment options.
Subject(s)
Connective Tissue Diseases/diagnosis , Connective Tissue Diseases/nursing , Craniofacial Abnormalities/diagnosis , Craniofacial Abnormalities/nursing , Nursing Assessment , Diagnosis, Differential , Humans , Infant , Infant, Newborn , Pierre Robin Syndrome/diagnosis , SyndromeABSTRACT
Stickler syndrome is one of the most common clinical syndromes in Europe although it is also one of the least known and consequently most misidentified. Because Stickler syndrome affects connective tissue, many different symptoms present, from vision to mobility difficulties. This article examines the main symptoms of the syndrome and includes an insightful personal account showing how it affects the whole family.
