Literature DB >> 3719442

Freeman-Sheldon syndrome: report of three cases and the anaesthetic implications.

R S Laishley, W L Roy.   

Abstract

The Freeman-Sheldon syndrome is a rare congenital myopathy and dysplasia. Fibrotic contractures of the facial muscles result in the characteristic "whistling face". Difficulties with intubation may be attributed in part to microstomia and micrognathia. In addition to other deformities, limb myopathy results in ulnar flexion contractures of the hand and equinovarus/valgus deformities of the feet. Intravenous access may be difficult because of limb deformities and thickened subcutaneous tissues. Limbs may be encased in plaster casts or splints limiting the available sites for venepuncture. Three case reports of children with Freeman-Sheldon syndrome are presented. The pathophysiology and anaesthetic problems encountered are discussed.

Entities:  

Mesh:

Year:  1986        PMID: 3719442     DOI: 10.1007/bf03010755

Source DB:  PubMed          Journal:  Can Anaesth Soc J        ISSN: 0008-2856


  5 in total

1.  Cranio-carpo-tarsal dystrophy.

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

2.  Cranio-carop-tarsal dysplasia or the whistling face syndrome. I. Clinical considerations.

Authors:  S Weinstein; R J Gorlin
Journal:  Am J Dis Child       Date:  1969-04

3.  Cranio-carpo-tarsal dysplasia. Report of a case in father and son.

Authors:  F C Fraser; H Pashayan; M E Kadish
Journal:  JAMA       Date:  1970-02-23       Impact factor: 56.272

4.  The whistling face syndrome, or craniocarpotarsal dysplasia. Report of two cases in a father and son and review of the literature.

Authors:  H Malkawi; M Tarawneh
Journal:  J Pediatr Orthop       Date:  1983-07       Impact factor: 2.324

5.  Electromyography of oral-facial musculature in craniocarpaltarsal dysplasia (Freeman-Sheldon syndrome).

Authors:  J J Sauk; J R Delaney; C Reaume; R Brandjord; C J Witkop
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

  5 in total
  9 in total

Review 1.  Freeman-Sheldon syndrome: case report and review of the literature.

Authors:  Jain Ashish; R Muralidhar; P Vijayalakshmi; Sundaram Meenakshi
Journal:  Int Ophthalmol       Date:  2011-10-07       Impact factor: 2.031

Review 2.  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

3.  Anaesthetic implications of the trismus pseudocamptodactyly (Dutch-Kentucky or Hecht Beals) syndrome.

Authors:  H Vaghadia; D Blackstock
Journal:  Can J Anaesth       Date:  1988-01       Impact factor: 5.063

4.  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

5.  Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa.

Authors:  A M Ali; R M Mbwasi; G Kinabo; E-J Kamsteeg; B C Hamel; M C J Dekker
Journal:  Case Rep Genet       Date:  2017-05-11

6.  The Obv-Eas Method: An Easy Way to Facilitate Fiberoptic Intubation in Pediatric Patients: Case of an Infant with Freeman-Sheldon Syndrome.

Authors:  Ozkan Onal; Irem Gumus; Mehmet Sari; Muhammed Emin Zora; Mehmet Ali Acar
Journal:  Anesth Pain Med       Date:  2018-09-18

Review 7.  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

8.  Emergent Cesarean Delivery in a Patient With Freeman-Sheldon Syndrome Complicated by Preeclampsia, Acute Pulmonary Embolism, and Pulmonary Edema: A Case Report.

Authors:  Mohamed Fayed; Mark A Giska; Rebekah C Shievitz; Ami Attali; Joshua Younger
Journal:  Cureus       Date:  2021-12-29

9.  Freeman-Sheldon Syndrome with Stiff Knee Gait - A Case Report.

Authors:  Sandeep Sehrawat; Sumit Sural; Pon Aravindhan A Sugumar; Shahrukh Khan; Santanu Kar; Madhan Jeyaraman
Journal:  J Orthop Case Rep       Date:  2021-11
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.