Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: Description of seven patients and review of the literature

1991 ◽  
Vol 41 (3) ◽  
pp. 371-380 ◽  
Author(s):  
Ineke Van Der Burgt ◽  
Asgeir Haraldsson ◽  
Jan C. Oosterwijk ◽  
Anthonie J. van Essen ◽  
Corry Weemaes ◽  
...  
2001 ◽  
Vol 99 (4) ◽  
pp. 289-293 ◽  
Author(s):  
A. Castriota-Scanderbeg ◽  
B. Dallapiccola ◽  
R. Mingarelli ◽  
K. Kozlowski

2018 ◽  
pp. 33-64
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  

This chapter discusses metaphyseal eysplasias and explores metaphyseal chondrodysplasia (Schmid type), cartilage-hair hypoplasia, metaphyseal dysplasia (Spahr type), metaphyseal anadysplasia, Shwachman syndrome, metaphyseal chondrodysplasia (Jansen type), Eiken dysplasia, and chronic infantile neurologic cutaneous and articular syndrome (CINCA). Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.


2020 ◽  
Vol 5 (1) ◽  
pp. 326-338 ◽  
Author(s):  
Kristen Weidner ◽  
Joneen Lowman

Purpose We conducted a systematic review of the literature regarding adult telepractice services (screening, assessment, and treatment) from approximately 2014 to 2019. Method Thirty-one relevant studies were identified from a literature search, assessed for quality, and reported. Results Included studies illustrated feasibility, efficacy, diagnostic accuracy, and noninferiority of various speech-language pathology services across adult populations, including chronic aphasia, Parkinson's disease, dysphagia, and primary progressive aphasia. Technical aspects of the equipment and software used to deliver services were discussed. Some general themes were noted as areas for future research. Conclusion Overall, results of the review continue to support the use of telepractice as an appropriate service delivery model in speech-language pathology for adults. Strong research designs, including experimental control, across multiple well-described settings are still needed to definitively determine effectiveness of telepractice services.


1999 ◽  
Vol 19 (3) ◽  
pp. 328-335
Author(s):  
Shanop Shuangshoti Shuangshoti ◽  
Samruay Shuangshoti

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