Ann Rehabil Med.  2016 Oct;40(5):938-942. 10.5535/arm.2016.40.5.938.

Rehabilitation Treatment of a Child Diagnosed With Duplication of 1q42-q44: A Case Report

• Kim SW
• Kim J
• Jeon HR
• Park MJ
• Kim Y

• KMID: 2382927
• DOI: http://doi.org/10.5535/arm.2016.40.5.938

Abstract

Trisomy 1 is a rare chromosomal anomaly and has never been reported in Korea. Clinical features of trisomy 1 include macrocephaly, prominent forehead, flat nasal bridge, low set ears, and micrognathia, all of which result in a very distinguishable facial structure. A child with trisomy 1 also suffers from mental retardation and/or developmental delays. In this case report, the child was diagnosed with de novo trisomy 1 without receiving any treatment until visiting our hospital. The child suffered from foot and ankle deformities, leading her unable to stand independently. Here we report the surgical treatment and rehabilitation treatment that enabled the child to walk independently.

Keyword

Trisomy; Orthopedic procedures; Rehabilitation

MeSH Terms

Ankle
Child*
Congenital Abnormalities
Ear
Foot
Forehead
Humans
Intellectual Disability
Korea
Megalencephaly
Micrognathism
Orthopedic Procedures
Rehabilitation*
Trisomy

Figure

• 

  Fig. 1 Facial dysmorphic features. Trigonocephaly, large and prominent forehead, depressed nasal bridge, irregularly positioned teeth, and micrognathia were noted.

• 

  Fig. 2 Pre-operation condition of the left ankle. Equinus deformity and plantar flexion contracture were noted.

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  Fig. 3 Post-operation condition of the left ankle. The patient was able to contact both heels completely. She was able to stand and walk independently after the orthopedic surgery.

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