Literature DB >> 24431877

Freeman-sheldon syndrome presenting with microstomia: a case report and literature review.

Vivek Gurjar1, Anita Parushetti1, Minal Gurjar2.   

Abstract

Freeman-Sheldon syndrome (FSS), as first described by Freeman and Sheldon in 1938, is a morphologically well-defined syndrome that results in a dysmorphic status combining bone anomalies and joint contractures with characteristic facies. It is part of the nosologic group of pathologies currently known as distal arthrogryposis as reported by Hall et al. (Am J Med Genet 11:185-239, 1982 [1]). It is a rare disorder and its exact prevalence is unknown. Our objective is to report a case of FSS presenting with microstomia and add a brief review of the literature for similar cases.

Entities:  

Keywords:  Distal arthrogryposis type 2A; Freeman-Sheldon syndrome; Microstomia; Multiple congenital contracture

Year:  2012        PMID: 24431877      PMCID: PMC3847022          DOI: 10.1007/s12663-012-0392-4

Source DB:  PubMed          Journal:  J Maxillofac Oral Surg        ISSN: 0972-8270


  32 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.  Diagnostic criteria for the whistling face syndrome.

Authors:  R M Antley; N Uga; N J Burzynski; R S Baum; D Bixler
Journal:  Birth Defects Orig Artic Ser       Date:  1975

Review 3.  Freeman Sheldon syndrome: severe upper airway obstruction requiring neonatal tracheostomy.

Authors:  P J Robinson
Journal:  Pediatr Pulmonol       Date:  1997-06

4.  Freeman-Sheldon (whistling face) syndrome. Anaesthetic and airway management.

Authors:  H M Munro; P J Butler; E J Washington
Journal:  Paediatr Anaesth       Date:  1997       Impact factor: 2.556

5.  Autosomal recessive form of whistling face syndrome in sibs.

Authors:  B Dallapiccola; A Giannotti; A Lembo; L Saguì
Journal:  Am J Med Genet       Date:  1989-08

6.  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

7.  Two-stage correction of thumb adduction contracture in Freeman-Sheldon syndrome (craniocarpotarsal dysplasia).

Authors:  S M Wenner; R M Shalvoy
Journal:  J Hand Surg Am       Date:  1989-11       Impact factor: 2.230

8.  New evidence for genetic heterogeneity of the Freeman-Sheldon syndrome.

Authors:  J M Sánchez; C P Kaminker
Journal:  Am J Med Genet       Date:  1986-11

9.  [Hand deformities in Freeman-Sheldon syndrome and their surgical treatment].

Authors:  A K Martini; U Banniza von Bazan
Journal:  Z Orthop Ihre Grenzgeb       Date:  1983 Sep-Oct

10.  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

View more
  5 in total

1.  Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.

Authors:  Asaf Vivante; Hadas Ityel; Ben Pode-Shakked; Jing Chen; Shirlee Shril; Amelie T van der Ven; Nina Mann; Johanna Magdalena Schmidt; Reeval Segel; Adi Aran; Avraham Zeharia; Orna Staretz-Chacham; Omer Bar-Yosef; Annick Raas-Rothschild; Yuval E Landau; Richard P Lifton; Yair Anikster; Friedhelm Hildebrandt
Journal:  Pediatr Nephrol       Date:  2017-08-05       Impact factor: 3.714

Review 2.  Anomalies of the oral cavity in newborns.

Authors:  Federico Mecarini; Vassilios Fanos; Giangiorgio Crisponi
Journal:  J Perinatol       Date:  2020-01-10       Impact factor: 2.521

3.  Genetic diversity of MYH3 gene associated with growth and carcass traits in Chinese Qinchuan cattle.

Authors:  Fubiao Niu; Lijun Wang; Xiaolin Liu; Hongliang Wang; Jing Yang; Yu Liu; Ling Chen
Journal:  Mol Biol Rep       Date:  2013-09-25       Impact factor: 2.316

4.  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

5.  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
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.