Trichothiodystrophy: Report of a New Case With Severe Nervous System Impairment

Abstract

The authors report a 3-year-old girl affected by trichothiodystrophy and severe nervous system involvement: the patient showed hypotonia since birth, mental retardation, and anomalies of the central nervous system consisting of partial agenesis of the corpus callosum on computed tomographic scan. (J Child Neurol 1992;7:300-303).

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