Frontometaphyseal dysplasia: neonatal radiographic diagnosis.
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.
Glass
R B
RB
Department of Diagnostic Imaging and Radiology, Children's National Medical Center, Washington, District of Columbia, USA.
Rosenbaum
K N
KN
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000328:Adult; D002675:Child, Preschool; D003238:Connective Tissue / Q000002:abnormalities / Q000000981:diagnostic imaging; D005147:Facial Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging