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Pancreatic insufficiency in Toriello–Carey syndrome: Report of a second patient
Author(s) -
ElChammas Khalil I.,
Venkatasubramani Narayanan,
Veith Regan,
Sekhri Neha,
Rhead William,
Toriello Helga V.,
Goday Praveen S.
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35304
Subject(s) - exocrine pancreatic insufficiency , medicine , diarrhea , adrenal insufficiency , pancreas , pediatrics , gastroenterology
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. © 2012 Wiley Periodicals, Inc.