Faden Maha A, Krakow Deborah, Ezgu Fatih, Rimoin David L, Lachman Ralph S
Clinical Genetics, Department of Pediatrics, Riyadh Medical Complex Hospital, Riyadh, Kingdom of Saudi Arabia.
Am J Med Genet A. 2009 Jun;149A(6):1334-45. doi: 10.1002/ajmg.a.32253.
Erlenmeyer flask bone deformity (EFD) is a long-standing term used to describe a specific abnormality of the distal femora. The deformity consists of lack of modeling of the di-metaphysis with abnormal cortical thinning and lack of the concave di-metaphyseal curve resulting in an Erlenmeyer flask-like appearance. Utilizing a literature review and cohort study of 12 disorders we found 20 distinct disorders were associated with EFD. We interrogated the International Skeletal Dysplasia Registry (ISDR) radiographic database (1988-2007) to determine which skeletal dysplasias or syndromes were highly associated with EFD, whether it was a uniform finding in these disorders, and if forms of EFD could be differentiated. EFD was classified into three groups. The first catogory was the typical EFD shaped bone (EFD-T) resultant from absent normal di-metaphyseal modeling with relatively normal appearing radiographic trabecular bone. EFD-T was identified in: frontometaphyseal dysplasia, craniometaphyseal dysplasia, craniodiaphyseal dysplasia, diaphyseal dysplasia-Engelmann type, metaphyseal dysplasia-Pyle type, Melnick-Needles osteodysplasty, and otopalatodigital syndrome type I. The second group was the atypical type (EFD-A) due to absence of normal di-metaphyseal modeling with abnormal radiographic appearance of trabecular bone and was seen in dysosteosclerosis and osteopetrosis. The third group was EFD-marrow expansion type (EFD-ME) in which bone marrow hyperplasia or infiltration leads to abnormal modeling (e.g., Gaucher disease). Further, radiographic review determined that it was not always a consistent finding and that there was variability in both appearance and location within the skeleton. This analysis and classification aided in differentiating disorders with the finding of EFD.
锥瓶样骨畸形（EFD）是一个长期使用的术语，用于描述股骨远端的一种特定异常。该畸形表现为干骺端塑形不良，伴有皮质异常变薄，且缺乏干骺端凹形曲线，从而呈现出锥瓶样外观。通过对12种疾病的文献综述和队列研究，我们发现有20种不同的疾病与EFD相关。我们查阅了国际骨骼发育异常登记处（ISDR）的放射学数据库（1988 - 2007年），以确定哪些骨骼发育异常或综合征与EFD高度相关，该表现是否在这些疾病中一致，以及能否区分EFD的不同形式。EFD被分为三组。第一类是典型的EFD形骨（EFD-T），由正常干骺端塑形缺失导致，放射学上小梁骨外观相对正常。EFD-T见于：额干骺端发育异常、颅干骺端发育异常、颅骨干骺端发育异常、骨干发育异常 - 恩格尔曼型、干骺端发育异常 - 派尔型、梅尼克 - 尼德尔斯骨发育异常和I型耳腭指综合征。第二类是非典型类型（EFD-A），由于正常干骺端塑形缺失，小梁骨放射学外观异常，见于骨硬化症和骨质石化症。第三组是EFD - 骨髓扩张型（EFD-ME），其中骨髓增生或浸润导致异常塑形（如戈谢病）。此外，放射学检查确定该表现并非总是一致的，且在骨骼中的外观和位置存在变异性。这种分析和分类有助于鉴别伴有EFD表现的疾病。
