Ann Rehabil Med.  2020 Oct;44(5):411-413. 10.5535/arm.20110.R.

Response: Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency (Ann Rehabil Med 2020;44:165-70)

• Park J
• Kang SW
• Choi WA
• Lee Y
• Cho HE

• KMID: 2508468
• DOI: http://doi.org/10.5535/arm.20110.R

Reference

1. Park J, Kang SW, Choi WA, Lee Y, Cho HE. Precise pulmonary function evaluation and management of a patient with Freeman-Sheldon syndrome associated with recurrent pneumonia and chronic respiratory insufficiency. Ann Rehabil Med. 2020; 44:165–70.

2. Poling MI, Dufresne CR, Chamberlain RL. Freeman-Burian syndrome. Orphanet J Rare Dis. 2019; 14:14.

3. Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet. 2006; 38:561–5.

4. Kang SW. Pulmonary rehabilitation in patients with neuromuscular disease. Yonsei Med J. 2006; 47:307–14.

5. Choi WA, Kang SW, Shin JC, Lee DY, Kim DH, Kim SD. Noninvasive respiratory management for patients with cervical spinal cord injury. J Korean Acad Rehabil Med. 2010; 34:518–23.

6. Branthwaite MA. Cardiorespiratory consequences of unfused idiopathic scoliosis. Br J Dis Chest. 1986; 80:360–9.

7. Vanek J, Janda J, Amblerova V, Losan F. Freeman-Sheldon syndrome: a disorder of congenital myopathic origin? J Med Genet. 1986; 23:231–6.

8. Attia A, Suleman M. Freeman–Sheldon syndrome with respiratory failure: a case report. Respir Med CME. 2008; 1:274–7.

9. Thomas MA, Fast A, Bach JR. Rehabilitation of the patient with disease of the motor unit. In : DeLisa JA, Gans BM, Bockenek WL, editors. Rehabilitation medicine: principles and practice. Philadelphia, PA: Lippincott-Raven;1998. p. 1545–73.

10. Bach JR, Rajaraman R, Ballanger F, Tzeng AC, Ishikawa Y, Kulessa R, et al. Neuromuscular ventilatory insufficiency: effect of home mechanical ventilator use v oxygen therapy on pneumonia and hospitalization rates. Am J Phys Med Rehabil. 1998; 77:8–19.