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

Abstract excerpt

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...

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