title: Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature.
abstract: Goltz-Gorlin syndrome is a highly variable disorder affecting many body parts of meso-ectodermal origin. Mutations in X-linked PORCN have been identified in almost all patients with a classical Goltz-Gorlin phenotype. The pentalogy of Cantrell is an infrequently described congenital disorder characterized by the combination of five anomalies: a midline supra-umbilical abdominal wall defect; absent or cleft lower part of the sternum; deficiency of the diaphragmatic pericardium; deficiency of the anterior diaphragm; and congenital heart anomalies. Etiology and pathogenesis are unknown. We report on an infant with findings fitting both Goltz-Gorlin syndrome (sparse hair; anophthalmia; clefting; bifid nose; irregular vermillion of both lips; asymmetrical limb malformations; caudal appendage; linear aplastic skin defects; unilateral hearing loss) and the pentalogy of Cantrell (absent lower sternum; anterior diaphragmatic hernia; ectopia cordis; omphalocele). The clinical diagnosis Goltz-Gorlin syndrome was confirmed molecularly by a point mutation in PORCN (c.727C>T). The presence of molecularly confirmed Goltz-Gorlin syndrome and pentalogy of Cantrell in a single patient has been reported twice before. The present patient confirms that the pentalogy of Cantrell can be caused in some patients by a PORCN mutation. It remains at present uncertain whether this can be explained by the type or localization of the mutation within PORCN, or whether the co-occurrence of the two entities is additionally determined by mutations or polymorphisms in other genes, environmental factors, and/or epigenetic influences.
authors.affiliation: Genetics Department, Wroclaw Medical University, Poland. smigiel@gen.am.wroc.pl
authors.forename: Robert
authors.initials: R
authors.lastname: Smigiel
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Jakubiak
authors.forename: Maria Paola
authors.initials: MP
authors.lastname: Lombardi
authors.forename: Wojciech
authors.initials: W
authors.lastname: Jaworski
authors.forename: Ryszard
authors.initials: R
authors.lastname: Slezak
authors.forename: Dariusz
authors.initials: D
authors.lastname: Patkowski
authors.forename: Raoul C
authors.initials: RC
authors.lastname: Hennekam
mesh_terms: D005260:Female; D005489:Focal Dermal Hypoplasia / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007223:Infant; D009154:Mutation; D012720:Severity of Illness Index