Hernia Research Today is a free monthly online journal that collates and summarizes the latest research about Hernia, including details on hiatal, inguinal, umbilical, abdominal, treatment.

Shprintzen-Goldberg omphalocele syndrome: a new patient with an expanded phenotype.

Zelante L, Germano M, Sacco M, Calvano S

Medical Genetics Service, IRCCS "CSS" Hospital, San Giovanni Rotondo (Fg), Italy. zelante@operapadrepio.it

Shprintzen and Goldberg [1979] described a new autosomal dominant syndrome characterized by omphalocele, scoliosis, pharyngeal and laryngeal hypoplasia, mild dysmorphic face, and learning disabilities. This condition was described in a father and three daughters, one of whom died in infancy, probably of airway narrowing. Here, we report on a second observation of this syndrome in a 6-year-old patient. In our case, omphalocele, imperforate anus, and feeding impairment were the main clinical problems in the neonatal period. Scoliosis appeared during the fourth year of age. The facial appearance is similar to the original patients and additional clinical findings are described which expand the phenotypic spectrum.

Published 26 January 2006 in Am J Med Genet A, 140(4): 383-4.
Full-text of this article is available online (may require subscription).

© 2004-2008 Hernia Research Today. All Rights Reserved.