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

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 suffer...

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Detalles Bibliográficos
Autores principales: Kim, Seong Woo, Kim, Jiyong, Jeon, Ha Ra, Park, Min Jung, Kim, Yoon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Academy of Rehabilitation Medicine 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5108722/
https://www.ncbi.nlm.nih.gov/pubmed/27847725
http://dx.doi.org/10.5535/arm.2016.40.5.938
Descripción
Sumario: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.

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