Apert, Crouzon, and Pfeiffer Syndromes

Abstract

This study is based on our research analysis of 136 cases of Apert syndrome, 61 cases of Crouzon syndrome, and a large number of patients with Pfeiffer syndrome. For Apert syndrome, the following topics are discussed: growth and development; visceral anomalies; central nervous system; performance; craniofacial findings; upper and lower respiratory compromise; anomalies of the hands, feet, shoulders, elbows, hips, knees, rib cage, and spine, including histologic, radiographic, and longitudinal data; cutaneous manifestations; prenatal diagnosis; and molecular genetics. For Crouzon syndrome, the following topics are discussed: central nervous system; upper and lower respiratory compromise; cervical anomalies; radiographic findings; craniofacial abnormalities; ophthalmologic, aural, and oral findings; and molecular genetics. For Pfeiffer syndrome, the following topics are discussed: subtypes of Pfeiffer syndrome; craniofacial features; central nervous system; hands and feet; vertebral abnormalities;other skeletal findings; miscellaneous abnormalities; and molecular genetics.