VACTERL-hydrocephaly, DK-phocomelia, and cerebro-cardio-radio-reno-rectal community

Abstract

Phenotypic manifestations of the autosomal recessive form of VACTERL-hydrocephaly syndrome (David-O'Callaghan syndrome) and the X-linked recessive form (Hunter-MacMurray) syndrome are almost identical. The absence of cardiovascular malformations in cases with undoubtedly X-linked inheritance may be the only exception. The comparison of patients with David-O'Callaghan syndrome and nonclassified sporadic cases of VACTERL-hydrocephaly showed two marked differences. First, radial involvement (usually bilateral) occurred in all familial but only in 22 of 36 sporadic cases. Therefore, radial noninvolvement may be evidence against a genetic origin of the complex in a sporadic case. Second, predominantly severe forms of cardiovascular malformations were found in cases of David-O'Callaghan syndrome, whereas in sporadic cases almost all cardiovascular malformations were simple defects with minimal, if any, hemodynamic disturbances. The similarity of the spectrum and frequency of main manifestations of David-O'Callaghan and von Voss-Cherstvoy syndromes allows us to think that both of these syndromes actually might be 2 forms of one genetic entity. There are some syndromes with abnormalities of the brain (different for each syndrome) sharing the same limb defects (mainly preaxial), congenital heart defects, abnormalities of kidneys, and anal atresia/ectopia. Baller-Gerold syndrome, Steinfeld syndrome, XK-aprosencephaly, and DK-phocomelia (von Voss-Cherstvoy) syndrome as well as Mendelian forms of VACTERL-hydrocephaly syndromes fit into this "cerebro-cardio-radio-reno-rectal community."

VACTERL-H syndrome: first trimester diagnosis

“…Lurie et al reported also that patients with autosomal recessive inheritance and sporadic cases of VACTERL-H association showed two differences: Firstly, radial bone involvement occurred in all familial but only in some sporadic cases. Secondly, cardiovascular malformations were more severe in patients with autosomal recessive inheritance (11). As proposed by the authors, both of our cases had radial aplasia as in other familial cases.…”

“…Phenotypic manifestations of the autosomal recessive form of VACTERL-H syndrome and the X linked recessive form have been reported to be almost identical, and Lurie et al suggested that the only exception might be the absence of cardiovascular malformations in cases with X linked inheritance (11). Atrial septal defect was one of the associated anomalies of our first case, as in other cases with the autosomal recessive form.…”

Distal 13q Deletion Syndrome and the VACTERL Association: Case report, literature review, and possible implications

“…The major findings in the VACTERL association include vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, urogenital anomalies, and cardiac and limb defects, although diagnosis requires the presence of only three [Czeizel and Ludányi, 1985; McMullen et al, 1996]. Phenotypically distinct syndromic and non‐syndromic forms occur, e.g., VACTERL‐hydrocephalus syndrome [Sujansky and Leonard, 1983; Lurie and Ferencz, 1997]. Although the etiology of the VACTERL association is unknown, a number of possible etiological factors have been reported including various cytogenetic abnormalities, maternal, diabetes, Fanconi anemia, CCG repeat expansion in the fragile X syndrome, and mitochondrial disorders [Auchterlonie and White, 1982; Weaver et al, 1986; Giampietro et al, 1996; Damian et al, 1996].…”

Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: A new X-linked dominant multiple congenital anomalies syndrome?

“…Rossbach et al [1996] drew attention to the similarities between the syndromes of VACTERL‐hydrocephaly, Fanconi anemia, and Baller‐Gerold syndrome. The name “cerebro‐cardio‐radio‐reno‐rectal community” was proposed by Lurie and Ferencz [1997] to include these syndromes and DK phocomelia (MURCS association or von Cherstvoy syndrome). Furthermore, the identification of a FAC gene mutation in twins suffering from VACTERL plus hydrocephaly [Cox et al, 1997] strengthens this hypothesis.…”