Syndrome Identification [Case Reports]

What’s in a name? This question is often asked of a genetic counselor when a syndrome is newly delineated. The brief case reports that follow demonstrate the importance of establishing precise diagnoses. They also emphasize that many of these syndromes are recognizable only after careful physical examination of the proband and family members, consultation with other subspecialties (for example, neurology, radiology, orthopedics, dentistry, pathology), and a review of the medical literature