Pancreatic insufficiency in Toriello-Carey syndrome: report of a second patient. Am J Med Genet A 2012 May;158A(5):1208-11
Date
04/13/2012Pubmed ID
22496049DOI
10.1002/ajmg.a.35304Scopus ID
2-s2.0-84859991434 (requires institutional sign-in at Scopus site) 2 CitationsAbstract
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.
Author List
El-Chammas KI, Venkatasubramani N, Veith R, Sekhri N, Rhead W, Toriello HV, Goday PSAuthor
William Rhead MD, PhD Adjunct Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Abnormalities, MultipleChild
Developmental Disabilities
Exocrine Pancreatic Insufficiency
Heart Defects, Congenital
Humans
Male
Syndrome
