An approach to congenital malformations of the head and neck.
It is easy to be overwhelmed when faced with the hundreds of cataloged anomalies of the head and neck region. For any individual defect there may be variation in phenotype, associated anomalies, and cause. To help organize these various disorders, dysmorphologists have grouped them into "syndromes", "sequences" and "associations" based on our level of understanding of their etiologies. Recently, completion of the human genome project has added a new level of complexity to the study of human malformations by providing a flood of new information about the genetic origins of established syndromes. The article describes the dysmorphologist's approach to the child with one or more anomalies and provides a glimpse into the future of human genetics.
Isaacson
Glenn
G
Department of Otolaryngology-Head & Neck Surgery, Temple University School of Medicine, 3400 North Broad Street, 1st Floor Kresge West, Philadelphia, PA 19140-5199, USA. glenn@ent.temple.edu
D002972:Cleft Palate / Q000209:etiology; D006257:Head / Q000002:abnormalities*; D006801:Humans; D009333:Neck / Q000002:abnormalities*; D013577:Syndrome; D014849:Waardenburg Syndrome / Q000175:diagnosis