Abstract
Objective: This study presents seven cases of a rare but distinctive form of spondyloepimetaphyseal dysplasia with joint laxity-leptodactylic or Hall type to emphasize the characteristic clinical and radiological findings. Materials and methods: A multiinstitutional retrospective review was performed on seven patients. The patient population consisted of one family with an affected mother and two siblings and four unrelated patients; there were one adult, aged 40 years, and six children, ranging in age from 3 to 12 years. The gender ratio of females to males was 5 to 2. We reviewed the clinical data and skeletal surveys and focused on radiographs of the pelvis, knees, hands, and spine. Results: The outstanding clinical features were short stature, midface hypoplasia, and multiple dislocations and/or ligamentous laxity of the large joints, particularly at the knees with a genu valgum or varum deformity. Of seven patients, six patients showed normal intellect but one patient had mild mental retardation. The main radiological features included small, irregular epiphyses, metaphyseal irregularity with vertical striations that was a constant finding at the knees, constricted femoral necks, delayed ossification of the carpal bones, and slender metacarpals. Progressive thoracolumbar scoliosis was evident with aging; however, the vertebral bodies appeared normal in height or mild platyspondyly was noted. Conclusion: In view of the orthopedic management of multiple joint dislocations and ligamentous laxity of the large joints, awareness of this disease entity and diagnostic precision solely based on radiological findings is of importance, particularly as the disorder is currently more common than initially reported.
| Original language | English |
|---|---|
| Pages (from-to) | 803-811 |
| Number of pages | 9 |
| Journal | Skeletal Radiology |
| Volume | 38 |
| Issue number | 8 |
| DOIs | |
| Publication status | Published - 2009 Aug 1 |
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Keywords
- Joint laxity
- Multiple dislocations
- Short stature
- Skeletal dysplasia
- Sponastrime dysplasia
- Spondyloepimetaphyseal dysplasia
ASJC Scopus subject areas
- Radiology Nuclear Medicine and imaging
Cite this
A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type : Radiological characteristics in seven new patients. / Kim, Ok Hwa; Cho, Tae Joon; Song, Hae Ryong; Chung, Chin Youb; Miyagawa, Shin Ichiro; Nishimura, Gen; Superti-Furga, Andrea; Unger, Sheila.
In: Skeletal Radiology, Vol. 38, No. 8, 01.08.2009, p. 803-811.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type
T2 - Radiological characteristics in seven new patients
AU - Kim, Ok Hwa
AU - Cho, Tae Joon
AU - Song, Hae Ryong
AU - Chung, Chin Youb
AU - Miyagawa, Shin Ichiro
AU - Nishimura, Gen
AU - Superti-Furga, Andrea
AU - Unger, Sheila
PY - 2009/8/1
Y1 - 2009/8/1
N2 - Objective: This study presents seven cases of a rare but distinctive form of spondyloepimetaphyseal dysplasia with joint laxity-leptodactylic or Hall type to emphasize the characteristic clinical and radiological findings. Materials and methods: A multiinstitutional retrospective review was performed on seven patients. The patient population consisted of one family with an affected mother and two siblings and four unrelated patients; there were one adult, aged 40 years, and six children, ranging in age from 3 to 12 years. The gender ratio of females to males was 5 to 2. We reviewed the clinical data and skeletal surveys and focused on radiographs of the pelvis, knees, hands, and spine. Results: The outstanding clinical features were short stature, midface hypoplasia, and multiple dislocations and/or ligamentous laxity of the large joints, particularly at the knees with a genu valgum or varum deformity. Of seven patients, six patients showed normal intellect but one patient had mild mental retardation. The main radiological features included small, irregular epiphyses, metaphyseal irregularity with vertical striations that was a constant finding at the knees, constricted femoral necks, delayed ossification of the carpal bones, and slender metacarpals. Progressive thoracolumbar scoliosis was evident with aging; however, the vertebral bodies appeared normal in height or mild platyspondyly was noted. Conclusion: In view of the orthopedic management of multiple joint dislocations and ligamentous laxity of the large joints, awareness of this disease entity and diagnostic precision solely based on radiological findings is of importance, particularly as the disorder is currently more common than initially reported.
AB - Objective: This study presents seven cases of a rare but distinctive form of spondyloepimetaphyseal dysplasia with joint laxity-leptodactylic or Hall type to emphasize the characteristic clinical and radiological findings. Materials and methods: A multiinstitutional retrospective review was performed on seven patients. The patient population consisted of one family with an affected mother and two siblings and four unrelated patients; there were one adult, aged 40 years, and six children, ranging in age from 3 to 12 years. The gender ratio of females to males was 5 to 2. We reviewed the clinical data and skeletal surveys and focused on radiographs of the pelvis, knees, hands, and spine. Results: The outstanding clinical features were short stature, midface hypoplasia, and multiple dislocations and/or ligamentous laxity of the large joints, particularly at the knees with a genu valgum or varum deformity. Of seven patients, six patients showed normal intellect but one patient had mild mental retardation. The main radiological features included small, irregular epiphyses, metaphyseal irregularity with vertical striations that was a constant finding at the knees, constricted femoral necks, delayed ossification of the carpal bones, and slender metacarpals. Progressive thoracolumbar scoliosis was evident with aging; however, the vertebral bodies appeared normal in height or mild platyspondyly was noted. Conclusion: In view of the orthopedic management of multiple joint dislocations and ligamentous laxity of the large joints, awareness of this disease entity and diagnostic precision solely based on radiological findings is of importance, particularly as the disorder is currently more common than initially reported.
KW - Joint laxity
KW - Multiple dislocations
KW - Short stature
KW - Skeletal dysplasia
KW - Sponastrime dysplasia
KW - Spondyloepimetaphyseal dysplasia
UR - http://www.scopus.com/inward/record.url?scp=68249125387&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=68249125387&partnerID=8YFLogxK
U2 - 10.1007/s00256-009-0671-4
DO - 10.1007/s00256-009-0671-4
M3 - Article
VL - 38
SP - 803
EP - 811
JO - Skeletal Radiology
JF - Skeletal Radiology
SN - 0364-2348
IS - 8
ER -