Article: Defining a Diagnosis.

Understanding the medical terminology used in diagnosing children with anomalies and syndromes is important for understanding medical issues and communicating more accurately with healthcare providers.

Q Our 6-year-old daughter was diagnosed with Pierre Robin syndrome shortly after birth because she had congenital anomalies (a cleft palate and small lower jaw). She initially had breathing difficulties because her tongue obstructed her airway. When she started having visual problems, her pediatrician referred her to a pediatric ophthalmologist who diagnosed a detached retina and near-sightedness. That led to a genetics referral and a diagnosis of Stickler syndrome. ...

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