Splenogonadal fusion limb defect syndrome: Report of five new cases and review

Splenogonadal fusion (SGF) is a rare congenital malformation in which the s pleen is abnormally connected to the gonad. SGF may occur as an isolated co ndition or may be associated with other malformations, especially with term inal limb defects in what is called splenogonadal fusion limb defect (SGFLD ) syndrome, In this article, we report on 5 new cases of SGFLD and we revie w the 25 cases reported since 1889, Most eases reviewed here have a combina tion of severe limb and ore-mandibular defects, suggesting that SGFLD may b e related to the broader group of Hanhart complex, In addition, several cas es have limb malformations and facial anomalies, which suggest that SGFLD o verlaps with both femur-fibulaulna dysostosis and femoral-facial syndrome, The hypothesis of a vascular disruptive event, occuring between the 5th and the 7th weeks of gestation, could explain the limb defects, the mandibular hypoplasia, and the fusion of the spleen to the gonad observed in SGFLD. H owever, this heterogenous and polytopic condition could also be the consequ ence of a primary field defect. All the cases to date reported have been sp oradic and the recurrence risk is probably low. However, a recent case of R oberts syndrome with SGF was reported that suggests careful examination of chromosomal status, Am. J. Med. Genet. 86:347-358, 1999. (C) 1999 Wiley-Lis s, Inc.