Craniometaphyseal dysplasia: case report.
Craniometaphyseal dysplasia is a rare genetic bone remodeling disorder characterized by undertubulation of the long bones, especially in the lower extremities, causing deformities of the metaphyses of the long bones, and sclerosis of the skull base or cranial bone hyperostosis. The authors report a case of craniometaphyseal dysplasia in an 8-year-old Brazilian child, emphasizing the importance of precocious diagnosis of this rare genetic disorder.
Maia
L C
LC
Departamento de Saúde e Sociedade, Universidade Federal Fluminense, Niterói, RJ, Brasil. rorefa@microlink.com.br
Modesto
A
A
Carakushansky
G
G
de Souza
I P
IP
D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000235:genetics; D016723:Bone Remodeling / Q000235:genetics; D002648:Child; D005147:Facial Bones / Q000473:pathology*; D005260:Female; D005269:Femur / Q000473:pathology; D005500:Follow-Up Studies; D006801:Humans; D015576:Hyperostosis / Q000175:diagnosis; D008313:Malocclusion, Angle Class III / Q000175:diagnosis; D010026:Osteosclerosis / Q000175:diagnosis; D012886:Skull / Q000473:pathology*; D019291:Skull Base / Q000473:pathology; D013977:Tibia / Q000473:pathology