Frontometaphyseal dysplasia: Neonatal radiographic diagnosis
- 22 May 1995
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 57 (1) , 1-5
- https://doi.org/10.1002/ajmg.1320570102
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.Keywords
This publication has 5 references indexed in Scilit:
- Restrictive Chest Bellows Disease and Frontometaphyseal DysplasiaChest, 1993
- Frontometaphyseal dysplasia—evidence for X-linked inheritanceAmerican Journal of Medical Genetics, 1980
- Frontometaphyseal DysplasiaAmerican Journal of Diseases of Children, 1976
- FRONTOMETAPHYSEAL DYSPLASIARadiologic Clinics of North America, 1972
- Frontometaphyseal DysplasiaAmerican Journal of Diseases of Children, 1969