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Frontometaphyseal dysplasia: neonatal radiographic diagnosis
1Department of Diagnostic Imaging and Radiology, Children's National Medical Center, Washington, District of Columbia, USA.
American Journal of Medical Genetics
|May 22, 1995
Abstract:
Frontometaphyseal dysplasia (FMD) is an uncommon genetic syndrome affecting bone and connective tissue. This condition is characterized by hyperostosis of the skull and prominence of the supraorbital ridges; long bones have flared metaphyses. Frontometaphyseal dysplasia is an X-linked dominant trait with more severe manifestations in males and with extreme variability in females. Diagnosis in the neonatal period is difficult. We present 2 newborn boys with the radiographic findings of FMD.