We report on the clinical, cytogenetic, and imaging findings in a patient with a 7q terminal
deletion. The 11-year-old girl had mental retardation, microcephaly, a distinctive face …

Prenatal diagnosis of the Currarino triad by means of obstetrical ultrasonography is
described. Three related cases are presented. A literature review regarding the therapeutic …

BACKGROUND Currarino syndrome is a rare hereditary condition with constipation as the
main symptom. The typical patient has a combination of sacral, anorectal, intraspinal and …

Abstract Background The Currarino triad is a rare hereditary syndrome comprising anorectal
malformation, sacral bony defect, and presacral mass. Most of the patients are diagnosed …

Background Despite variability at presentation, presacral masses in patients with and
without anorectal malformations (ARM) appear histologically similar. The purpose of this …

25 blastogenesis often involve two or more progenitor fields. This fact may explain the cause
of subgroups of ARM that form part of complex phenotypes due to developmental field …

Ring chromosome 7 is a rare but well documented chromosomal aberration in man. So far at
least 14 cases have been reported in the literature showing a variable but distinct pattern of …

PURPOSE: Currarino triad, which comprises> anorectal stenosis, anterior sacral defect, and
a presacral mass, is an uncommon cause of constipation in children and adults. The …

A fetus with severe sacral agenesis and intrauterine growth retardation, ascertained at
prenatal diagnosis, was found to be carrying an unbalanced form of a paternal balanced …

Objectives To present the prenatal diagnosis and perinatal findings of a de novo terminal
deletion of chromosome 7q. Case Amniocentesis was performed at 21‐weeks gestation …