A clinical study of the craniofacial features in Apert syndrome.
A clinical study of the craniofacial features in Apert syndrome is based on our experience with 136 cases. Characteristics included hyperacrobrachycephaly, steep wide forehead, flat occiput, common craniofacial asymmetry, ocular hypertelorism and proptosis, downslanting palpebral fissures, divergent upgaze and esotropic downgaze, a tendency towards large ears, and marked depression of the nasal bridge. The nose is short and wide with a bulbous tip, and the anterior facial height is reduced. Common features during infancy included horizontal grooves above the supraorbital ridges that disappear with age, a break in the continuity of the eyebrows, and a trapezoidal-shaped mouth at rest. Radiographic aspects of Apert syndrome were also assessed. Tables are provided which compare the craniofacial features of Apert and Crouzon syndromes.
Cohen
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MM
Division of Oral and Maxillofacial Pathology, Daihousie University, Halifax, Nova Scotia, Canada.
Kreiborg
S
S
D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging / Q000473:pathology*; D003394:Craniofacial Dysostosis / Q000473:pathology; D004431:Ear, External / Q000002:abnormalities; D004948:Esotropia / Q000473:pathology; D005094:Exophthalmos / Q000473:pathology; D005141:Eyelid Diseases / Q000473:pathology; D005145:Face / Q000002:abnormalities*; D005146:Facial Asymmetry / Q000473:pathology; D005147:Facial Bones / Q000002:abnormalities* / Q000473:pathology; D005546:Forehead / Q000002:abnormalities; D006801:Humans; D006972:Hypertelorism / Q000473:pathology; D007223:Infant; D009056:Mouth Abnormalities / Q000473:pathology; D009295:Nasal Bone / Q000002:abnormalities; D009666:Nose / Q000002:abnormalities; D009777:Occipital Bone / Q000002:abnormalities; D009915:Orbit / Q000002:abnormalities; D011859:Radiography; D012886:Skull / Q000002:abnormalities* / Q000473:pathology; D013285:Strabismus / Q000473:pathology