Hyperbrachycephaly, short face, midface hypoplasia, fusion of cervical vertebrae, radiolucent bone defects, and severe destruction of periodontium--a new syndrome: craniofaciocervical osteoglyphic dysplasia.
A patient with an unusual combination of findings, which do not fit in any of the known syndromes, is presented. The patient, a 24.5-year-old male of normal growth and intelligence, manifests craniofacial dysmorphism, radiolucencies in the skull and in the cervical vertebrae, progressive alveolar bone loss and fusion of cervical vertebrae. The young man does not exhibit any other systemic, hematological, biochemical, chromosomal or immunological abnormality, except for IgA deficiency.
Bazopoulou-Kyrkanidou
E
E
Department of Oral Pathology and Surgery, Faculty of Dentistry, University of Athens, Greece.
Vrotsos
I
I
Kyrkanides
S
S
Tsichlakis
K
K
Tosios
K
K
Mandalenaki-Lambrou
K
K
Kondyli
A
A
Nassi
H
H
Sarri
C
C
Grigoriadou
M
M
D000328:Adult; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002508:Cephalometry; D002574:Cervical Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging; D003394:Craniofacial Dysostosis / Q000000981:diagnostic imaging / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D017098:IgA Deficiency / Q000235:genetics; D008297:Male; D010519:Periodontium / Q000002:abnormalities* / Q000000981:diagnostic imaging; D010641:Phenotype; D011859:Radiography; D013577:Syndrome