Carakushansky G, Paiva I S, Kahn E, Ribeiro M G
Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
J Pediatr (Rio J). 2001 Sep-Oct;77(5):425-30. doi: 10.2223/jped.286.
To share knowledge and information about the peculiarities of the Freeman-Sheldon syndrome, especially concerning the high risk of recurrence of its recessive type in siblings, and to stress the importance of genetic counseling for families after the birth of an affected child. DESCRIPTION: The authors describe and comment two pediatric cases of the Freeman-Sheldon syndrome in siblings born to healthy parents. These two cases present significant peculiarities that contradict the findings of the medical literature, obtained through bibliographic research about the subject. The cases described here corroborate the existence of a recessive type of the Freeman-Sheldon syndrome. In spite of the fact that some authors suggest a high frequency of severe neurological impairment in this type of syndrome, the two cases we analyzed did not show any apparent manifestation of such sequelae. COMMENTS: The Freeman-Sheldon syndrome is heterogeneous not only in its clinical presentation but also in its genetic transmission. It is very important to be informed about the existence of more than one form of hereditary transmission of this syndrome, since genetic counseling should take into consideration all possibilities. In these cases, the use of empiric risks of recurrence would be justified.
分享有关弗里曼-谢尔登综合征特点的知识和信息，特别是其隐性类型在兄弟姐妹中复发的高风险，并强调在患病儿童出生后对家庭进行遗传咨询的重要性。
作者描述并评论了两例健康父母所生的患有弗里曼-谢尔登综合征的兄弟姐妹的儿科病例。这两例病例呈现出显著的特点，与通过对该主题的文献研究得出的医学文献结果相矛盾。这里描述的病例证实了弗里曼-谢尔登综合征隐性类型的存在。尽管一些作者认为这种综合征类型中严重神经功能障碍的发生率较高，但我们分析的这两例病例并未显示出此类后遗症的任何明显表现。
弗里曼-谢尔登综合征不仅在临床表现上具有异质性，在遗传传递方面也是如此。了解该综合征存在多种遗传传递形式非常重要，因为遗传咨询应考虑到所有可能性。在这些情况下，使用经验性复发风险是合理的。
