额骨干骺端发育不良：新生儿影像学诊断

Frontometaphyseal dysplasia: neonatal radiographic diagnosis.

作者信息

Glass R B, Rosenbaum K N

机构信息

Department of Diagnostic Imaging and Radiology, Children's National Medical Center, Washington, District of Columbia, USA.

出版信息

Am J Med Genet. 1995 May 22;57(1):1-5. doi: 10.1002/ajmg.1320570102.

DOI:10.1002/ajmg.1320570102

PMID:7645585

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.

摘要

额面干骺端发育异常（FMD）是一种影响骨骼和结缔组织的罕见遗传综合征。这种病症的特征是颅骨骨质增生和眶上嵴突出；长骨干骺端呈喇叭口状。额面干骺端发育异常是一种X连锁显性性状，男性表现更为严重，女性表现差异极大。新生儿期诊断困难。我们报告了2例具有额面干骺端发育异常影像学表现的男婴。