Summary
A 5-year-old girl with the Costello syndrome is reported. Her clinical manifestations included growth and developmental delay, a distinct facial appearance with sparse and curly hair, nasal papillomata, and dark loose skin of the hands and feet. These manifestations, especially nasal papilloma, an age-dependent anomaly, are distinct in the Costello syndrome.
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Kondo, I., Tamanaha, K. & Ashimine, K. The costello syndrome: Report of a case and review of the literature. Jap J Human Genet 38, 433–436 (1993). https://doi.org/10.1007/BF01907991
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DOI: https://doi.org/10.1007/BF01907991
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The costello syndrome: A boy with thick mitral valves and arrhythmias
Japanese Journal of Human Genetics (1993)