Distal 13q deletion syndrome and the VACTERL association: Case report, literature review, and possible implications

We present a case of a child with del(13) (q31.1qter), VACTERL association, and penoscrotal transposition. Deletion of the distal long arm of chromoso me 13 is associated with variable phenotypes. These phenotypes are divided into three clusters; each cluster represents a specific deleted segment of 13q. Individuals with deletions of a critical region at 13q32 have multiple congenital malformations that include components of the VACTERL associatio n. Our patient had all six manifestations of VACTERL association. In additi on, he had complete penoscrotal transposition, a unique malformation report ed rarely in VACTERL association and only twice previously in deletion of d istal 13q. We reviewed all reported cases of distal 13q deletions to date. Of these 137 patients, 15 could be classified into the VACTERL association. Ours was the only patient with distal 13q deletion and all VACTERL associa tion features and also the only one with tracheoesophageal fistula. Neither holoprosencephaly nor the other central nervous system malformations that have been seen in individuals with distal 13q deletions were apparent in hi m. The patient presented here appears to be unique among individuals with d istal 13q deletion. His cluster of malformations strengthens the argument t hat distal 13q deletion is a cause for VACTERL association, and that this c ausal relationship implies a syndromic form of VACTERL. In addition, this c ase and those ascertained from the literature suggest that penoscrotal tran sposition should be considered part of both the distal 13q-deletion syndrom e and some forms of VACTERL association. (C) 2001 Wiley-Liss, Inc.