Swanenburg de Veye H F, Heineman-de-Boer J A, Beemer F A
University Hospital for children and youth, Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands.
Genet Couns. 1991;2(1):21-5.
In this article, a boy is presented with the Johanson-Blizzard syndrome and high intelligence. In the literature, a wide range of intellectual abilities of children with the Johanson-Blizzard syndrome is reported. To obtain optimal conditions for the development of a child with the Johanson-Blizzard syndrome, early diagnosis of potential problems that may prevent this normal growth and development is recommended. The acquisition of more knowledge concerning the hypothetic reasons for intellectual impairment is of vital importance for families involved, in the light of genetic counseling.
本文介绍了一名患有乔汉森-暴雪综合征且智力较高的男孩。在文献中，报道了乔汉森-暴雪综合征患儿广泛的智力水平。为了为患有乔汉森-暴雪综合征的儿童创造最佳的发育条件，建议尽早诊断可能阻碍其正常生长发育的潜在问题。鉴于遗传咨询，了解更多有关智力障碍假设原因的知识对相关家庭至关重要。
