Microdeletion of 12p11.22-p11.21 resulting in a skeletal dysplasia characterized by significant metaphyseal abnormalities and osteolysis

2017 ◽  
Author(s):  
Jennifer Harrington ◽  
Andrew Howard ◽  
Malte Spielmann ◽  
Peter Kannu
Keyword(s):  
Skeletal Dysplasia

Skeletal dysplasia in Saul Wilson syndrome

2019 ◽  
Author(s):  
Merete Ljungberg ◽  
Hove Hanne Buciek
Keyword(s):  
Skeletal Dysplasia

Skeletal dysplasia

2017 ◽  
Author(s):  
Melita Irving
Keyword(s):  
Skeletal Dysplasia

TR[alpha] mutation causes a severe and thyroxine-resistant skeletal dysplasia

2014 ◽  
Author(s):  
J H Duncan Bassett ◽  
Alan Boyde ◽  
Tomas Zikmund ◽  
Holly Evans ◽  
Peter I Croucher ◽  
...  
Keyword(s):  
Skeletal Dysplasia

scholarly journals Complications and Revisions After Spine Surgery in Patients With Skeletal Dysplasia: Have We Improved?

2021 ◽  
pp. 219256822199478
Author(s):  
Karim Shafi ◽  
Francis Lovecchio ◽  
Maria Sava ◽  
Michael Steinhaus ◽  
Andre Samuel ◽  
...  
Keyword(s):  
Spine Surgery ◽  
Skeletal Dysplasia ◽  
Spinal Surgery ◽  
Cardiovascular Health ◽  
Surgical Complication ◽  
Case Series ◽  
Neurologic Complication ◽  
Complication Rates ◽  
Retrospective Case ◽  
Average Patient

Study Design: Retrospective case series. Objective: To report contemporary rates of complications and subsequent surgery after spinal surgery in patients with skeletal dysplasia. Methods: A case series of 25 consecutive patients who underwent spinal surgery between 2007 and 2017 were identified from a single institution’s skeletal dysplasia registry. Patient demographics, medical history, surgical indication, complications, and subsequent surgeries (revisions, extension to adjacent levels, or for pathology at a non-contiguous level) were collected. Charlson comorbidity indices were calculated as a composite measure of overall health. Results: Achondroplasia was the most common skeletal dysplasia (76%) followed by spondyloepiphyseal dysplasia (20%); 1 patient had diastrophic dysplasia (4%). Average patient age was 53.2 ± 14.7 years and most patients were in excellent cardiovascular health (88% Charlson Comorbidity Index 0-4). Mean follow up after the index procedure was 57.4 ± 39.2 months (range). Indications for surgery were mostly for neurologic symptoms. The most commonly performed surgery was a multilevel thoracolumbar decompression without fusion (57%). Complications included durotomy (36%), neurologic complication (12%), and infection requiring irrigation and debridement (8%). Nine patients (36%) underwent a subsequent surgery. Three patients (12%) underwent a procedure at a non-contiguous anatomic zone, 3 (12%) underwent a revision of the previous surgery, and another 3 (12%) required extension of their previous decompression or fusion. Conclusions: Surgical complication rates remain high after spine surgery in patients with skeletal dysplasia, likely attributable to inherent characteristics of the disease. Patients should be counseled on their risk for complication and subsequent surgery.

Clinical utility of a sponsored, no-cost skeletal dysplasia gene panel testing program: Results from 850 tests

2021 ◽  
Vol 132 (2) ◽  
pp. S98
Author(s):  
Guillermo Seratti ◽  
Vikram Pansare ◽  
Tiffany Yar Pang ◽  
Emanuela Izzo ◽  
William Mackenzie ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
Clinical Utility ◽  
Gene Panel ◽  
Testing Program ◽  
Panel Testing ◽  
Gene Panel Testing

Clinical utility of a sponsored, no-cost skeletal dysplasia gene panel testing program: results from 850 tests

2021 ◽  
Vol 132 ◽  
pp. S201
Author(s):  
Guillermo Seratti ◽  
Tiffany Pang ◽  
Vikram Pansare ◽  
Emanuela Izzo ◽  
William Mackenzie ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
Clinical Utility ◽  
Gene Panel ◽  
Testing Program ◽  
Panel Testing ◽  
Gene Panel Testing
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