Freeman-Sheldon syndrome with respiratory failure: A case report

Respiratory Medicine CME

Volumn 1, Issue 4, 2008, Pages 274-277

  Attia, Adel ^a   Suleman, Moosa ^a   Nwasser, Abd Al aziz Al ^a  

^a IMAM ABDULRAHMAN BIN FAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

Freeman Sheldon syndrome

Indexed keywords

BRONCHODILATING AGENT; FUROSEMIDE; ILOPROST; SILDENAFIL;

ARTICLE; ASTHMA; BONE DYSPLASIA; CASE REPORT; CHRONIC RESPIRATORY FAILURE; COR PULMONALE; DYSPNEA; FEMALE; FREEMAN SHELDON SYNDROME; HUMAN; HYPOPITUITARISM; MYOPATHY; PATIENT COMPLIANCE; PHYSICIAN; PRIORITY JOURNAL; PULMONARY HYPERTENSION; SCHOOL CHILD; SCOLIOSIS; SYMPTOM;

EID: 54149099196     PISSN: 17550017     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.rmedc.2008.07.016     Document Type: Article

References (10)

1. Freeman E.A., and Sheldon J.H. Cranio-carpo-tarsal dystophy. Arch Dis Child 13 (1938) 277-283
2. Sauk J.J., Delaney J.R., Reaume C., Brandjord R., and Witkop C.J. Electromyography of the oral-facial musculature in craniocarpal tarsal dysplasia (Freeman-Sheldon syndrome). Clin Genet 6 (1974) 132-137
3. Fraser F.C., Pashayan H., and Kadish M.E. Cranio-carpodysplasia - report of a case in father and son. JAMA 211 (1970) 1374-1376
4. Malkawi H., and Tarawneh M. The whistling face syndrome, or craniocarpo-tarsal dysplasia. Report of two cases in a father and son and review of the literature. J Pediatr Orthop 3 (1983) 364-369
5. Walker B.A. Whistling face, Windmill-Vane-Hand syndrome, (cranio-carpo-tarsal dystrophy; Freeman-Sheldon syndrome). Birth defects. Original article series vol. 5 (1969), The National Foundation No. 2, p. 228-30
6. Weinstein S., and Gorlin R.J. Cranio-carpo-tarsal dysplasia or the whistling face syndrome, I: clinical considerations. Am J Dis Child 117 (1969) 427-433
7. Stevenson DA, Carey JC, Palumbos J, Rutherford A, Dolcourt J, Bamshad MJ. Clinical characteristics and natural history of Freeman-Sheldon syndrome, March; 2006.
8. Bamshad M., Jorde L.B., and Carey J.C. A revised and extended classification of the distal arthrogryposes. Am J Med Genet 65 4 (1996) 277-281
9. Vanek J., Janda J., Amblerova V., and Losan F. Freeman-Sheldon syndrome: a disorder of congenital myopathic origin?. J Med Genet 23 3 (1986) 231-236
10. Toydemir R.M., Rutherford A., Whitby F.G., Jorde L.B., Carey J.C., and Bamshad M.J. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet 38 5 (2006) 561-565