Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2020 Jul;32(3):E64-E69.
doi: 10.1097/PEP.0000000000000714.

Physical Therapy Management of Wiedemann-Steiner Syndrome From Birth to 3 Years

Carmel Mendoza  1
Affiliations
Case Reports

Physical Therapy Management of Wiedemann-Steiner Syndrome From Birth to 3 Years

Carmel Mendoza. Pediatr Phys Ther. 2020 Jul.

Abstract

Purpose: To investigate Wiedemann-Steiner syndrome (WSS), its correlation to hypotonia and developmental delay, and to determine the relative intervention strategies that may be useful during early intervention from birth to 3 years.

Methods: A literature search using PEDro and PubMed was conducted using key words "Wiedemann-Steiner syndrome," "hypotonia," and "developmental delay" and a case study is presented.

Results: A 36-month-old child with WSS received PT intervention beginning at 2 months old. Addition of orthotics and treadmill walking was added at 13 and 19 months, respectively. The child progressed through developmental sequences from rolling, sitting, standing, and walking although consistently scored with motor delay of -2 SD.

Conclusions: Fifty-seven percent of children diagnosed with WSS have hypotonia, and 90% have developmental delay. The diagnosis of WSS should require physical therapy services through early intervention programs due to its high correlation with motor developmental delay and disability. Determination of progress should be measured with achievement of function rather than norm-referenced outcome measures.Video Abstract: For more insights from the authors, access Supplemental Digital Content 1, available at: http://links.lww.com/PPT/A292.

PubMed Disclaimer

References

    1. Stellacci E, Onesimo R, Bruselles A, et al. Congenital Immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missence mutation in KMT2A. Am J Med Genet A. 2016;170(9):2389–2393. doi:10.1002/ajmd.a.37681.
    1. Steiner CE, Marques AP. Growth deficiency, mental retardation and unusual facies. Clin Dysmorphol. 2000;9(2):155–156.
    1. Wiedemann HR, Kunze J, Grosse FR, Dibbern HA. A syndrome of abnormal facies, short stature, and psychomotor retardation. In: Kahler SG, ed. Atlas of Clinical Syndromes: A Visual Aid to Diagnosis for Clinicians and Practicing Physicians. 2nd ed. London, England: Wolfe Publishing Ltd; 1989:198–199.
    1. Aggarwal A, Rodriquez-Buritica DF, Northrup H. Wiedemann-Steiner syndrome: novel pathogenic variant and review of literature. Eur J Med Genet. 2017;60(6):285–288. doi:10.1016/j.ejmg.2017.03.006.
    1. Mendelsohn BA, Pronold M, Long R, Smaoui N, Slavotinek AM. Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL). Am J Med Genet A. 2014;164A(8):2079–2083. doi:10.1002/ajmg.a.36590.

Publication types

Supplementary concepts