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Quoted phrase not found in phrase index: "Congenital deformity of upper limb"
Page 1
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, W… See abstract for full author list ➔ van der Sluijs PJ, et al. Genet Med. 2019 Jun;21(6):1295-1307. doi: 10.1038/s41436-018-0330-z. Epub 2018 Nov 8. Genet Med. 2019. PMID: 30349098 Free PMC article.

CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p < 0.001) in ARID1B-CSS patients. .

…
CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and sma …
Cleft hand.
Ogino T. Ogino T. Hand Clin. 1990 Nov;6(4):661-71. Hand Clin. 1990. PMID: 2176655 Review.
When the cleft is closed at approximately 1 year of age, spontaneous correction of the flexion deformity of the ring finger is sometimes observed....
When the cleft is closed at approximately 1 year of age, spontaneous correction of the flexion deformity of the ring finger is someti …
Oligodactyly with Thumb.
Baek GH, Kim J. Baek GH, et al. J Hand Surg Asian Pac Vol. 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. J Hand Surg Asian Pac Vol. 2016. PMID: 27595943
BACKGROUND: Oligodactyly of the hand is one of the rarest congenital anomalies of upper extremities and defined as the presence of fewer than five fingers on a hand. ...We suggest a classification system of oligodactyly with thumb based on locations of missing digit …
BACKGROUND: Oligodactyly of the hand is one of the rarest congenital anomalies of upper extremities and defined as the presenc …
A multidisciplinary review of triphalangeal thumb.
Potuijt JWP, Galjaard RH, van der Spek PJ, van Nieuwenhoven CA, Ahituv N, Oberg KC, Hovius SER. Potuijt JWP, et al. J Hand Surg Eur Vol. 2019 Jan;44(1):59-68. doi: 10.1177/1753193418803521. Epub 2018 Oct 14. J Hand Surg Eur Vol. 2019. PMID: 30318985 Free PMC article. Review.
The findings of triphalangeal thumb can be predictive for other congenital anomalies as part of an underlying syndrome. ...Future initiatives involving multidisciplinary teams collaborating in the field of triphalangeal thumb research can lead to a better understand …
The findings of triphalangeal thumb can be predictive for other congenital anomalies as part of an underlying syndrome. ...Fut …
Holt-Oram syndrome.
Smith AT, Sack GH Jr, Taylor GJ. Smith AT, et al. J Pediatr. 1979 Oct;95(4):538-43. doi: 10.1016/s0022-3476(79)80758-1. J Pediatr. 1979. PMID: 480027
The autosomal dominant association of upper extremity skeletal defects with congenital heart disease is known as the Holt-Oram syndrome. We reviewed our experience with 39 affected patients of whom 15 were considered new mutations. Wide varieties of skeletal …
The autosomal dominant association of upper extremity skeletal defects with congenital heart disease is known as the Ho …
The Oberg-Manske-Tonkin (OMT) Classification of Congenital Upper Extremities: Update for 2020.
Goldfarb CA, Ezaki M, Wall LB, Lam WL, Oberg KC. Goldfarb CA, et al. J Hand Surg Am. 2020 Jun;45(6):542-547. doi: 10.1016/j.jhsa.2020.01.002. Epub 2020 Feb 21. J Hand Surg Am. 2020. PMID: 32093994 Review.
A new classification for congenital upper-extremity anomalies was first published in 2010. It has come to be known as the OMT classification highlighting the thought leaders behind it: Kerby Oberg, Paul Manske, and Michael Tonkin. ...We carefully reviewed all …
A new classification for congenital upper-extremity anomalies was first published in 2010. It has come to be known as t …
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
Angelozzi M, Karvande A, Molin AN, Ritter AL, Leonard JMM, Savatt JM, Douglass K, Myers SM, Grippa M, Tolchin D, Zackai E, Donoghue S, Hurst ACE, Descartes M, Smith K, Velasco D, Schmanski A, Crunk A, Tokita MJ, de Lange IM, van Gassen K, Robinson H, Guegan K, Suri M, Patel C, Bournez M, Faivre L, Tran-Mau-Them F, Baker J, Fabie N, Weaver K, Shillington A, Hopkin RJ, Barge-Schaapveld DQCM, Ruivenkamp CA, Bökenkamp R, Vergano S, Seco Moro MN, Díaz de Bustamante A, Misra VK, Kennelly K, Rogers C, Friedman J, Wigby KM, Lenberg J, Graziano C, Ahrens-Nicklas RC, Lefebvre V. Angelozzi M, et al. J Med Genet. 2022 Nov;59(11):1058-1068. doi: 10.1136/jmedgenet-2021-108375. Epub 2022 Mar 1. J Med Genet. 2022. PMID: 35232796 Free PMC article.
METHODS: We newly identified 17 patients with SOX4 variants, predicted variant pathogenicity using in silico tests and in vitro functional assays and analysed the patients' phenotypes. ...
METHODS: We newly identified 17 patients with SOX4 variants, predicted variant pathogenicity using in silico tests and in vitro funct …
Correction of "Wrist" Deformity in Radial Dysplasia: A Systematic Review and Meta-Analysis.
Murphy GRF, Logan MPO, Smith G, Sivakumar B, Smith P. Murphy GRF, et al. J Bone Joint Surg Am. 2017 Dec 20;99(24):2120-2126. doi: 10.2106/JBJS.17.00164. J Bone Joint Surg Am. 2017. PMID: 29257019 Free PMC article. Review.
This review aims to clarify the long-term outcomes of nonsurgical and surgical treatment of the "wrist" deformity. METHODS: The Embase, MEDLINE, PubMed, Cochrane Central, ClinicalTrials.gov, and World Health Organization International Clinical Trials Registry Platform (ICT …
This review aims to clarify the long-term outcomes of nonsurgical and surgical treatment of the "wrist" deformity. METHODS: The Embas …
Ulnar deficiency.
Miller JK, Wenner SM, Kruger LM. Miller JK, et al. J Hand Surg Am. 1986 Nov;11(6):822-9. doi: 10.1016/s0363-5023(86)80230-1. J Hand Surg Am. 1986. PMID: 3794237
To permit early determination of prognosis and decisions regarding treatment, four subtypes of this condition have been identified. Progressive ulnar deviation of the wrist was not observed in any case, and the fibrocartilaginous ulnar anlage was resected only to correct f …
To permit early determination of prognosis and decisions regarding treatment, four subtypes of this condition have been identified. Progress …
Upper limb function and deformity in cerebral palsy: a review of classification systems.
McConnell K, Johnston L, Kerr C. McConnell K, et al. Dev Med Child Neurol. 2011 Sep;53(9):799-805. doi: 10.1111/j.1469-8749.2011.03953.x. Epub 2011 Mar 24. Dev Med Child Neurol. 2011. PMID: 21434888 Free article. Review.
METHOD: We comprehensively searched electronic databases to identify upper limb classification tools and associated evidence of psychometric testing. ...INTERPRETATION: This review supports the use of the MACS and modified House functional system to classify uppe …
METHOD: We comprehensively searched electronic databases to identify upper limb classification tools and associated evidence o …
492 results