Leri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3

We report on a mother and her 5-year old son, both with a terminal deletion of the short arm of the X chromosome. By molecular genetic analysis the br eakpoint was located distal to steroid sulfatase gene, The boy manifested, due to nullisomy of this region, short stature (SHOX), chondrodysplasia pun ctata (ARSE), and mental retardation (putative mental retardation gene MRX 49), Short stature is present in mother and son, but both also had bilatera l Madelung deformity, a key finding in the Leri-Weill syndrome.We discuss t he phenotype in relationship to hitherto published cases with chromosomal a berrations and contiguous gene syndromes of Xp22,3, Am. J. Med. Genet. 83:3 67-371, 1999, (C) 1999 Wiley-Liss,Inc.