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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1995 1
1997 1
1998 1
1999 1
2004 1
2005 4
2008 1
2011 1
2012 2
2014 1
2015 3
2017 1
2018 2
2019 2
2020 2
2021 4
2022 4
2023 1
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30 results

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Page 1
Spondylo-epi-metaphyseal dysplasia.
Cormier-Daire V. Cormier-Daire V. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):33-44. doi: 10.1016/j.berh.2007.12.009. Best Pract Res Clin Rheumatol. 2008. PMID: 18328979 Review.
The diagnosis is either based on the specificity of the skeletal manifestations or on the presence of characteristic extraskeletal features which may appear during the course of the disease, highlighting the importance of follow-up of SEMD patients. The complications are v …
The diagnosis is either based on the specificity of the skeletal manifestations or on the presence of characteristic extraskeletal features …
Orthopedic concerns of a child with short stature.
Liau ZQG, Wang Y, Lin HY, Cheong CK, Gupta S, Hui JHP. Liau ZQG, et al. Curr Opin Pediatr. 2022 Feb 1;34(1):82-91. doi: 10.1097/MOP.0000000000001081. Curr Opin Pediatr. 2022. PMID: 34840250 Review.
Advancements in clinical diagnostic tools and diversified treatment modalities today provides optimism in managing pediatric short stature. SUMMARY: Skeletal dysplasia can be treated with good prognosis if diagnosed and managed early. Thorough clinical, radiological, labor …
Advancements in clinical diagnostic tools and diversified treatment modalities today provides optimism in managing pediatric short stature. …
Quality of life, physical functioning, and psychosocial function among patients with achondroplasia: a targeted literature review.
Constantinides C, Landis SH, Jarrett J, Quinn J, Ireland PJ. Constantinides C, et al. Disabil Rehabil. 2022 Oct;44(21):6166-6178. doi: 10.1080/09638288.2021.1963853. Epub 2021 Aug 17. Disabil Rehabil. 2022. PMID: 34403286 Review.
Future research to better characterize QoL in ACH patients will assist clinicians to better evaluate the effectiveness of management programs including novel interventions.IMPLICATIONS FOR REHABILITATIONPatients with achondroplasia experience limitations in physical functioning a …
Future research to better characterize QoL in ACH patients will assist clinicians to better evaluate the effectiveness of management program …
Growth pattern in children with X-linked hypophosphatemia treated with burosumab and growth hormone.
Ertl DA, Le Lorier J, Gleiss A, Trabado S, Bensignor C, Audrain C, Zhukouskaya V, Coutant R, Berkenou J, Rothenbuhler A, Haeusler G, Linglart A. Ertl DA, et al. Orphanet J Rare Dis. 2022 Nov 12;17(1):412. doi: 10.1186/s13023-022-02562-9. Orphanet J Rare Dis. 2022. PMID: 36371259 Free PMC article.
Our data suggest that continuing treatment with rhGH after switching from conventional therapy to burosumab, if the height prognosis is compromised, might be beneficial for the final height....
Our data suggest that continuing treatment with rhGH after switching from conventional therapy to burosumab, if the height prognosis …
Genetic skeletal dysplasias: a guide to diagnosis and management.
Sewell MD, Chahal A, Al-Hadithy N, Blunn GW, Molloy S, Hashemi-Nejad A. Sewell MD, et al. J Back Musculoskelet Rehabil. 2015;28(3):575-90. doi: 10.3233/BMR-140558. J Back Musculoskelet Rehabil. 2015. PMID: 25391330 Review.
The latest classification lists 456 disorders under 40 group headings differentiated by specific clinical, radiographic and molecular criteria. Establishing an accurate diagnosis is important to predict final height, expected complications and treatment, and for specific g …
The latest classification lists 456 disorders under 40 group headings differentiated by specific clinical, radiographic and molecular criter …
RAB33B and PCNT variants in two Pakistani families with skeletal dysplasia and short stature.
Ain NU, Fatima Z, Naz S, Makitie O. Ain NU, et al. BMC Musculoskelet Disord. 2021 Jul 20;22(1):630. doi: 10.1186/s12891-021-04503-2. BMC Musculoskelet Disord. 2021. PMID: 34284742 Free PMC article.
Whole genome sequencing for probands from both families were performed followed by Sanger sequencing to confirm segregation of identified variants in the respective families. In-silico pathogenicity score prediction for identified variant and amino acid conservation analys …
Whole genome sequencing for probands from both families were performed followed by Sanger sequencing to confirm segregation of identified va …
Determinants of growth after kidney transplantation in prepubertal children.
Grohs J, Rebling RM, Froede K, Hmeidi K, Pavičić L, Gellermann J, Müller D, Querfeld U, Haffner D, Živičnjak M. Grohs J, et al. Pediatr Nephrol. 2021 Jul;36(7):1871-1880. doi: 10.1007/s00467-021-04922-2. Epub 2021 Feb 23. Pediatr Nephrol. 2021. PMID: 33620573 Free PMC article.
METHODS: Body height, leg length, sitting height, and sitting height index (as a measure of body proportions) were prospectively investigated in 148 prepubertal patients enrolled in the CKD Growth and Development study with a median follow-up of 5.0 years. We used linear mixed-ef …
METHODS: Body height, leg length, sitting height, and sitting height index (as a measure of body proportions) were prospectively investigate …
Lower limb lengthening in patients with disproportionate short stature with achondroplasia: a systematic review of the last 20 years.
Schiedel F, Rödl R. Schiedel F, et al. Disabil Rehabil. 2012;34(12):982-7. doi: 10.3109/09638288.2011.631677. Epub 2011 Nov 23. Disabil Rehabil. 2012. PMID: 22112021 Review.
Using PALEY'S multiplier method, the expected standing height, sitting height, and leg length can be predicted and an individualized treatment approach can be planned and operative procedures could be started in early childhood as PERETTI suggests. ...
Using PALEY'S multiplier method, the expected standing height, sitting height, and leg length can be predicted and an individualized …
Spinal manifestations of skeletal dysplasias.
Kornblum M, Stanitski DF. Kornblum M, et al. Orthop Clin North Am. 1999 Jul;30(3):501-20, x. doi: 10.1016/s0030-5898(05)70102-4. Orthop Clin North Am. 1999. PMID: 10393771 Review.
Skeletal dysplasias, disorders of abnormal bone and cartilage development, are a heterogeneous group, each disorder with its own genetics, prevalence, prognosis, and treatment. More than 150 distinct conditions have been identified. ...
Skeletal dysplasias, disorders of abnormal bone and cartilage development, are a heterogeneous group, each disorder with its own genetics, p …
30 results