Work

Frontometaphyseal dysplasia: Neonatal radiographic diagnosis

Year: 1995
Type: article
Study design: Case Report
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.
Language: English
Subfield: Genetics
Open Access status: green
OpenAlex ID: W1526977350
FWCI: 13.85
Cites: 42
Cited by: 188
Related to: 10