Pancreatic insufficiency in Toriello-Carey syndrome: report of a second patient.

Published

Journal Article

Toriello-Carey syndrome is characterized by multiple congenital anomalies. Pancreatic insufficiency is suspected when patients present with poor weight gain, diarrhea, or maldigestion. The diagnosis is confirmed by low stool elastase and pancreatic stimulation testing. To our knowledge, only one patient with Toriello-Carey syndrome has been reported to have pancreatic insufficiency. We report on a second patient with Toriello-Carey syndrome and pancreatic insufficiency, and describe the management of pancreatic insufficiency in patients with this syndrome.

Full Text

Duke Authors

Cited Authors

  • El-Chammas, KI; Venkatasubramani, N; Veith, R; Sekhri, N; Rhead, W; Toriello, HV; Goday, PS

Published Date

  • May 2012

Published In

Volume / Issue

  • 158A / 5

Start / End Page

  • 1208 - 1211

PubMed ID

  • 22496049

Pubmed Central ID

  • 22496049

Electronic International Standard Serial Number (EISSN)

  • 1552-4833

Digital Object Identifier (DOI)

  • 10.1002/ajmg.a.35304

Language

  • eng

Conference Location

  • United States