title: Megacystis, megacolon, and malrotation: a new syndromic association?
abstract: Chronic intestinal pseudo-obstruction (CIPO) can occur as a consequence of neuropathies including diffuse Intestinal Neuronal Dysplasia (IND), a relatively rare enteric nervous system (ENS) abnormality. Although various authors reported of diffuse IND associated either with intestinal malrotation or megacystis, the co-existence of these three entities in the same patient has never been described before. The aim of this paper is to report for the first time in literature a series of patient with such association, focusing on one who carries a de novo duplication of chromosome 12, suggesting a new syndromic association (megacolon, megacystis, malrotation).
authors: Department of Pediatric Surgery, Giannina Gaslini Institute, Genoa, Italy. apinipr@tin.it
authors: A
authors: A
authors: Pini Prato
authors: V
authors: V
authors: Rossi
authors: M
authors: M
authors: Fiore
authors: S
authors: S
authors: Avanzini
authors: G
authors: G
authors: Mattioli
authors: F
authors: F
authors: Sanfilippo
authors: A
authors: A
authors: Michelazzi
authors: S
authors: S
authors: Borghini
authors: N
authors: N
authors: Disma
authors: G
authors: G
authors: Montobbio
authors: A
authors: A
authors: Barabino
authors: P
authors: P
authors: Nozza
authors: I
authors: I
authors: Ceccherini
authors: S
authors: S
authors: Gimelli
authors: V
authors: V
authors: Jasonni
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D058674:Chromosome Duplication; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D004386:Duodenum / Q000002:abnormalities; D017615:Enteric Nervous System / Q000002:abnormalities*; D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D041981:Gastrointestinal Tract / Q000002:abnormalities* / Q000601:surgery; D006801:Humans; D007081:Ileostomy; D008531:Megacolon / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D013577:Syndrome; D014102:Torsion Abnormality / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D001743:Urinary Bladder / Q000002:abnormalities