期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 179, 期 2, 页码 300-305出版社
WILEY
DOI: 10.1002/ajmg.a.60698
关键词
hypertrichosis; hypertrichosis cubiti; KMT2A; lysine methyltransferase; Wiedemann-Steiner syndrome
Wiedemann-Steiner syndrome is a genetic condition associated with dysmorphic facies, hypertrichosis, short stature, developmental delay, and intellectual disability. Congenital malformations of the cerebral, cardiac, renal, and optic structures have also been reported. Because the majority of reported individuals with this condition have been under age 20, the long-term prognosis is not well defined. Here we report on two further unrelated individuals diagnosed with Wiedemann-Steiner syndrome, one of whom is in her third decade of life. In addition, both individuals have novel KMT2A mutations. The information provided below about the outcome in Wiedemann-Steiner syndrome is important for families of affected individuals.
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