The Erlenmeyer Flask Bone Deformity In the Skeletal Dysplasias

被引:47
作者
Faden, Maha A. [1 ,2 ]
Krakow, Deborah [1 ,3 ,4 ]
Ezgu, Fatih [1 ]
Rimoin, David L. [1 ,3 ,5 ,6 ]
Lachman, Ralph S. [1 ,6 ,7 ]
机构
[1] Univ Calif Los Angeles, David Geffen Sch Med, Cedars Sinai Med Ctr, Inst Med Genet, Los Angeles, CA 90048 USA
[2] Riyadh Med Complex Hosp, Dept Pediat, Riyadh, Saudi Arabia
[3] Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90048 USA
[4] Univ Calif Los Angeles, David Geffen Sch Med, Dept Obstet & Gynecol, Los Angeles, CA 90048 USA
[5] Univ Calif Los Angeles, David Geffen Sch Med, Dept Internal Med, Los Angeles, CA 90048 USA
[6] Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90048 USA
[7] Univ Calif Los Angeles, David Geffen Sch Med, Dept Radiol, Los Angeles, CA 90048 USA
关键词
Erlenmeyer flask deformity; skeletal dysplasias; osteochondrodysplasias; NIEMANN-PICK-DISEASE; FAMILIAL METAPHYSEAL DYSPLASIA; RENAL TUBULAR-ACIDOSIS; POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA; AUTOSOMAL-DOMINANT OSTEOPETROSIS; MELNICK-NEEDLES-SYNDROME; CRANIOMETAPHYSEAL DYSPLASIA; FRONTOMETAPHYSEAL DYSPLASIA; OTOPALATODIGITAL SYNDROME; RADIOLOGICAL FINDINGS;
D O I
10.1002/ajmg.a.32253
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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 Erlemneyer 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. (C) 2009 Wiley-Liss, Inc.
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收藏
页码:1334 / 1345
页数:12
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