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489 results

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Quoted phrase not found in phrase index: "Brachydactyly-long thumb syndrome"
Page 1
Common Hand Conditions: A Review.
Currie KB, Tadisina KK, Mackinnon SE. Currie KB, et al. JAMA. 2022 Jun 28;327(24):2434-2445. doi: 10.1001/jama.2022.8481. JAMA. 2022. PMID: 35762992 Review.
IMPORTANCE: Carpal tunnel syndrome, trigger finger, de Quervain tenosynovitis, and basilar (carpometacarpal) joint arthritis of the thumb can be associated with significant disability. OBSERVATIONS: Carpal tunnel syndrome is characterized by numbness and ting …
IMPORTANCE: Carpal tunnel syndrome, trigger finger, de Quervain tenosynovitis, and basilar (carpometacarpal) joint arthritis of the …
The trisomy 18 syndrome.
Cereda A, Carey JC. Cereda A, et al. Orphanet J Rare Dis. 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. Orphanet J Rare Dis. 2012. PMID: 23088440 Free PMC article. Review.
The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. ...Typical minor anomalies include characteristic craniofacial features, cle …
The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chro …
Splinting for carpal tunnel syndrome.
Karjalainen TV, Lusa V, Page MJ, O'Connor D, Massy-Westropp N, Peters SE. Karjalainen TV, et al. Cochrane Database Syst Rev. 2023 Feb 27;2(2):CD010003. doi: 10.1002/14651858.CD010003.pub2. Cochrane Database Syst Rev. 2023. PMID: 36848651 Free PMC article. Review.
BACKGROUND: Carpal tunnel syndrome (CTS) is a compression neuropathy of the median nerve causing pain and numbness and tingling typically in the thumb, index and middle finger. ...
BACKGROUND: Carpal tunnel syndrome (CTS) is a compression neuropathy of the median nerve causing pain and numbness and tingling typic …
Diamond-Blackfan anemia.
Da Costa LM, Marie I, Leblanc TM. Da Costa LM, et al. Hematology Am Soc Hematol Educ Program. 2021 Dec 10;2021(1):353-360. doi: 10.1182/hematology.2021000314. Hematology Am Soc Hematol Educ Program. 2021. PMID: 34889440 Free PMC article.
Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome, characterized as a rare congenital bone marrow erythroid hypoplasia (OMIM#105650). ...Congenital malformations localized mostly in the cephalic area and in the extremities (thumbs), as well …
Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome, characterized as a rare congenital bone marrow erythroid …
Dermatological findings in Rubinstein-Taybi Syndrome.
Cammarata-Scalisi F, Diociaiuti A, Cárdenas Tadich A, Sandoval X, Oranges T, Filippeschi C, Araya Castillo M, Willoughby CE, Cerri A, Gervasini C, Callea M. Cammarata-Scalisi F, et al. Ital J Dermatol Venerol. 2023 Aug;158(4):316-320. doi: 10.23736/S2784-8671.23.07547-3. Epub 2023 Jun 7. Ital J Dermatol Venerol. 2023. PMID: 37282850 Free article. Review.
Rubinstein-Taybi Syndrome is a rare congenital multisystem syndrome inherited in an autosomal dominant pattern caused by mutations in CREBBP and EP300 genes in approximately 60% and 10% respectively. ...In this review, we discuss the genetics, diagnosis, and clinica …
Rubinstein-Taybi Syndrome is a rare congenital multisystem syndrome inherited in an autosomal dominant pattern caused by mutat …
Treatment for postpolio syndrome.
Koopman FS, Beelen A, Gilhus NE, de Visser M, Nollet F. Koopman FS, et al. Cochrane Database Syst Rev. 2015 May 18;(5):CD007818. doi: 10.1002/14651858.CD007818.pub3. Cochrane Database Syst Rev. 2015. PMID: 25984923 Review.
BACKGROUND: Postpolio syndrome (PPS) may affect survivors of paralytic poliomyelitis and is characterised by a complex of neuromuscular symptoms leading to a decline in physical functioning. ...Data from two single trials suggested that muscle strengthening of thumb …
BACKGROUND: Postpolio syndrome (PPS) may affect survivors of paralytic poliomyelitis and is characterised by a complex of neuromuscul …
Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988.
Rubinstein JH. Rubinstein JH. Am J Med Genet Suppl. 1990;6:3-16. doi: 10.1002/ajmg.1320370603. Am J Med Genet Suppl. 1990. PMID: 2118774 Review.
This presentation records the early history of the description of the broad thumb-hallux syndrome and attempts to update the current state of knowledge about this syndrome. ...The diagnosis was established in most cases by confirming the concurrence of the co …
This presentation records the early history of the description of the broad thumb-hallux syndrome and attempts to update the c …
The behavioral phenotype of Rubinstein-Taybi syndrome: A scoping review of the literature.
Awan N, Pearson E, Shelley L, Greenhill C, Tarver J, Waite J. Awan N, et al. Am J Med Genet A. 2022 Sep;188(9):2536-2554. doi: 10.1002/ajmg.a.62867. Epub 2022 Jun 21. Am J Med Genet A. 2022. PMID: 35730128 Free PMC article. Review.
Rubinstein-Taybi syndrome (RTS) is a rare genetic syndrome associated with growth delay, phenotypic facial characteristics, microcephaly, developmental delay, broad thumbs, and big toes. ...
Rubinstein-Taybi syndrome (RTS) is a rare genetic syndrome associated with growth delay, phenotypic facial characteristics, mi …
Distraction Lengthening of the Apert Thumb.
Upton J, McNamara CT, Ali B, Nuzzi LC, Taghinia AH, Labow BI. Upton J, et al. Plast Reconstr Surg. 2022 Apr 1;149(4):691e-699e. doi: 10.1097/PRS.0000000000008929. Plast Reconstr Surg. 2022. PMID: 35157629
BACKGROUND: The thumbs of patients with Apert syndrome are characteristically short and radially deviated, contributing to functional hand impairment. The authors report a two-staged technique for distraction lengthening of the Apert thumb using a robust coho …
BACKGROUND: The thumbs of patients with Apert syndrome are characteristically short and radially deviated, contributing to fun …
Clinical Presentations and Diagnostic Imaging of VACTERL Association.
Tonni G, Koçak Ç, Grisolia G, Rizzo G, Araujo Júnior E, Werner H, Ruano R, Sepulveda W, Bonasoni MP, Lituania M; “International Perinatology Research Group (IPRG)”. Tonni G, et al. Fetal Pediatr Pathol. 2023 Aug;42(4):651-674. doi: 10.1080/15513815.2023.2206905. Epub 2023 May 17. Fetal Pediatr Pathol. 2023. PMID: 37195727
Tracheo-esophageal fistula is seen in 50-80% of cases and renal malformations in 30% of patients. Limb defects including thumb aplasia/hypoplasia, polydactyly, and radial agenesis/hypoplasia are present in 40-50% of cases. ...Differential diagnosis should exclude similar d …
Tracheo-esophageal fistula is seen in 50-80% of cases and renal malformations in 30% of patients. Limb defects including thumb aplasi …
489 results