Baller-Gerold syndrome associated with congenital portal venous malformation.

Abstract

(jMed Genet 1998;35:767-769)

Case Report Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report

“…The fetus aborted was found to have bilateral short upper forearms and bilateral absence of thumbs. The fetus had an identical presentation to the BGS patient previously reported (Savarirayan et al, 1998;Markose et al, 1999;Lype et al, 2008). Therefore, we believe this fetus had BGS.…”

A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association

“…Secondly, the observation of cytogenetic characteristics consistent with Fanconi anaemia in several subjects with the VATER-hydrocephalus presentation11-13and the identification of an FAC gene mutation in one such family14 is quite distinct from uncomplicated VATER association, in which cytogenetic studies are generally unremarkable. Finally, the scope for diagnostic confusion offered by the VATER-hydrocephalus phenotype, in particular with Baller-Gerold syndrome, Fanconi anaemia, and Roberts syndrome, has been underlined by the experience of several authors,11 12 15 18 20 25 26 some families having gone through the full spectrum of these diagnostic entities before the true diagnosis became apparent 13…”

“…14 18 However, the complex aetiology of the VATER-hydrocephalus phenotype is signalled by reports consistent with X linked inheritance18 and by variations in the phenotype reported, which have included abnormal ears, branchial arch defects, aqueduct stenosis, pancreatic hypoplasia, and abnormal lung lobulation 1617 19 Savarirayan et al ,20 in describing a case of Baller-Gerold syndrome, emphasise the potential for diagnostic error in making a diagnosis of Baller-Gerold syndrome or VACTERL association in children with this spectrum of anomalies without first excluding conditions such as Fanconi anaemia and Roberts syndrome, for which diagnostic tests are available. As recognised by Winter and Baraitser,19 “it seems very likely that there is genetic heterogeneity amongst the group of infants with hydrocephaly and features of VATER”.…”

Noncirrhotic portal hypertension in a child with velocardiofacial syndrome

“…Congenital abnormalities of the umbilical and portal venous system (UPVS) are rare and have been reported associated with biliary duct atresia, heterotaxy, cardiac malformations, and multiple malformation syndromes including chromosome anomalies [Savarirayan et al, 1998; Massin et al, 1999; Rahemtullah et al, 2001; Shinkai et al, 2001]. Congenital absence of the portal vein (PV) results in portosystemic shunt and is distinguished from PV hypoplasia, atresia or stenosis.…”

“…Such developmental abnormalities have been hypothesized to be due to excessive obliteration of the normal regression of the umbilical vein and ductus venosus after birth [Marks, 1969; Corness et al, 2006]. Several syndromes have been reported associated with congenital abnormalities of the UPVS, most commonly trisomy 21, but these associations are rare [Savarirayan et al, 1998; Rahemtullah et al, 2001; Volpe et al, 2002; Pipitone et al, 2003]. Variceal dilatation of the extrahepatic umbilical vein has been noted in one fetus diagnosed with 22q11.2 deletion [Rahemtullah et al, 2001].…”