Borderline normal intelligence in the Smith‐Lemli‐Opitz (RSH) syndrome
RB Lowry, SL Yong, JM Opitz - American journal of medical …, 1980 - Wiley Online Library
RB Lowry, SL Yong, JM Opitz
American journal of medical genetics, 1980•Wiley Online LibraryWe report two sibs with the Smith‐Lemli‐Optiz (RSH) syndrome and intelligence in the
borderline normal range. The proposita has all the features of the syndrome; however, her
brother shows fewer signs, indicating that considerable variability of expression may exist for
this autosomal recessive trait. Nearly all previous cases had severe to profound mental
retardation. The incidence of the syndrome in British Columbia is approximately 1/40,000
live births, giving a heterozygote frequency of about 1/100.
borderline normal range. The proposita has all the features of the syndrome; however, her
brother shows fewer signs, indicating that considerable variability of expression may exist for
this autosomal recessive trait. Nearly all previous cases had severe to profound mental
retardation. The incidence of the syndrome in British Columbia is approximately 1/40,000
live births, giving a heterozygote frequency of about 1/100.
Abstract
We report two sibs with the Smith‐Lemli‐Optiz (RSH) syndrome and intelligence in the borderline normal range. The proposita has all the features of the syndrome; however, her brother shows fewer signs, indicating that considerable variability of expression may exist for this autosomal recessive trait. Nearly all previous cases had severe to profound mental retardation. The incidence of the syndrome in British Columbia is approximately 1/40,000 live births, giving a heterozygote frequency of about 1/100.
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