Literature DB >> 26174733

Preliminary experience with delayed non-operative therapy of multiple hand and wrist contractures in a woman with Freeman-Sheldon syndrome, at ages 24 and 28 years.

Rodger J McCormick1, Mikaela I Poling1, Augusto L Portillo1, Robert L Chamberlain1.   

Abstract

We describe two proof-of-concept trials of delayed non-operative therapy of multiple hand and wrist contractures in a woman with a severe expression of Freeman-Sheldon syndrome (FSS), at ages 24 and 28 years. Having presented as an infant to a university referral centre, passive correction was not accompanied by strengthening exercises, and correction was lost. FSS is described as a myopathic distal arthrogryposis; diagnosis requires the following: microstomia, whistling face appearance, H-shaped chin dimpling, nasolabial folds, and multiple hand and foot contractures. Spinal deformities, metabolic and gastroenterological problems, other craniofacial characteristics, and visual and auditory impairments, are frequent findings. To avoid possible FSS-associated complications of malignant hyperthermia and difficult intubation, and to reduce or eliminate need for surgery, we proceeded with passive manipulation without anaesthesia or sedation. We believe this is the first report of attempted non-operative correction of multiple hand and wrist contractures in an adult with FSS. 2015 BMJ Publishing Group Ltd.

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Year:  2015        PMID: 26174733      PMCID: PMC4513577          DOI: 10.1136/bcr-2015-210935

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  11 in total

1.  p.R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome.

Authors:  Mohammad Al-Haggar; Soheir Yahia; Kristy Damjanovich; Nermin Ahmad; Iman Hamada; Pinar Bayrak-Toydemir
Journal:  Indian J Pediatr       Date:  2010-10-06       Impact factor: 1.967

2.  Cranio-carpo-tarsal dystrophy.

Authors:  E A Freeman; J H Sheldon
Journal:  Arch Dis Child       Date:  1938-09       Impact factor: 3.791

3.  Laryngomalacia, choanal atresia and renal anomaly in a newborn with Freeman-Sheldon syndrome phenotype.

Authors:  A Tastekin; M Ikbal; R Ors
Journal:  Genet Couns       Date:  2004

4.  Genotype-phenotype relationships in Freeman-Sheldon syndrome.

Authors:  Anita E Beck; Margaret J McMillin; Heidi I S Gildersleeve; Kathryn M B Shively; Andy Tang; Michael J Bamshad
Journal:  Am J Med Genet A       Date:  2014-09-25       Impact factor: 2.802

5.  Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.

Authors:  Reha M Toydemir; Ann Rutherford; Frank G Whitby; Lynn B Jorde; John C Carey; Michael J Bamshad
Journal:  Nat Genet       Date:  2006-04-16       Impact factor: 38.330

6.  De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

Authors:  Jessica X Chong; Margaret J McMillin; Kathryn M Shively; Anita E Beck; Colby T Marvin; Jose R Armenteros; Kati J Buckingham; Naomi T Nkinsi; Evan A Boyle; Margaret N Berry; Maureen Bocian; Nicola Foulds; Maria Luisa Giovannucci Uzielli; Chad Haldeman-Englert; Raoul C M Hennekam; Paige Kaplan; Antonie D Kline; Catherine L Mercer; Malgorzata J M Nowaczyk; Jolien S Klein Wassink-Ruiter; Elizabeth W McPherson; Regina A Moreno; Angela E Scheuerle; Vandana Shashi; Cathy A Stevens; John C Carey; Arnaud Monteil; Philippe Lory; Holly K Tabor; Joshua D Smith; Jay Shendure; Deborah A Nickerson; Michael J Bamshad
Journal:  Am J Hum Genet       Date:  2015-02-12       Impact factor: 11.025

7.  Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally.

Authors:  Homa Tajsharghi; Eva Kimber; Anna-Karin Kroksmark; Ragnar Jerre; Mar Tulinius; Anders Oldfors
Journal:  Arch Neurol       Date:  2008-08

8.  Clinical characteristics and natural history of Freeman-Sheldon syndrome.

Authors:  David A Stevenson; John C Carey; Janice Palumbos; Ann Rutherford; Joyce Dolcourt; Michael J Bamshad
Journal:  Pediatrics       Date:  2006-03       Impact factor: 7.124

9.  The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle.

Authors:  Alice W Racca; Anita E Beck; Margaret J McMillin; F Steven Korte; Michael J Bamshad; Michael Regnier
Journal:  Hum Mol Genet       Date:  2015-03-03       Impact factor: 6.150

Review 10.  Myosinopathies: pathology and mechanisms.

Authors:  Homa Tajsharghi; Anders Oldfors
Journal:  Acta Neuropathol       Date:  2012-08-05       Impact factor: 17.088

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  3 in total

Review 1.  Identification and Recent Approaches for Evaluation and Management of Rehabilitation Concerns for Patients with Freeman-Burian Syndrome: Principles for Global Treatment.

Authors:  Mikaela I Poling; Craig R Dufresne; Rodger J McCormick
Journal:  J Pediatr Genet       Date:  2020-05-07

2.  Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features.

Authors:  Robert L Chamberlain; Mikaela I Poling; Augusto L Portillo; Andrés Morales; Rigoberto R T Ramirez; Rodger J McCormick
Journal:  BMJ Case Rep       Date:  2015-10-22

Review 3.  Freeman-Burian syndrome.

Authors:  Mikaela I Poling; Craig R Dufresne; Robert L Chamberlain
Journal:  Orphanet J Rare Dis       Date:  2019-01-10       Impact factor: 4.123

  3 in total

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