Pancreatic insufficiency in Toriello-Carey syndrome: report of a second patient.
Publication
, Journal Article
El-Chammas, KI; Venkatasubramani, N; Veith, R; Sekhri, N; Rhead, W; Toriello, HV; Goday, PS
Published in: Am J Med Genet A
May 2012
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.
Duke Scholars
Published In
Am J Med Genet A
DOI
EISSN
1552-4833
Publication Date
May 2012
Volume
158A
Issue
5
Start / End Page
1208 / 1211
Location
United States
Related Subject Headings
- Syndrome
- Male
- Humans
- Heart Defects, Congenital
- Exocrine Pancreatic Insufficiency
- Developmental Disabilities
- Child
- Abnormalities, Multiple
- 3202 Clinical sciences
- 3105 Genetics
Citation
APA
Chicago
ICMJE
MLA
NLM
El-Chammas, K. I., Venkatasubramani, N., Veith, R., Sekhri, N., Rhead, W., Toriello, H. V., & Goday, P. S. (2012). Pancreatic insufficiency in Toriello-Carey syndrome: report of a second patient. Am J Med Genet A, 158A(5), 1208–1211. https://doi.org/10.1002/ajmg.a.35304
El-Chammas, Khalil I., Narayanan Venkatasubramani, Regan Veith, Neha Sekhri, William Rhead, Helga V. Toriello, and Praveen S. Goday. “Pancreatic insufficiency in Toriello-Carey syndrome: report of a second patient.” Am J Med Genet A 158A, no. 5 (May 2012): 1208–11. https://doi.org/10.1002/ajmg.a.35304.
El-Chammas KI, Venkatasubramani N, Veith R, Sekhri N, Rhead W, Toriello HV, et al. Pancreatic insufficiency in Toriello-Carey syndrome: report of a second patient. Am J Med Genet A. 2012 May;158A(5):1208–11.
El-Chammas, Khalil I., et al. “Pancreatic insufficiency in Toriello-Carey syndrome: report of a second patient.” Am J Med Genet A, vol. 158A, no. 5, May 2012, pp. 1208–11. Pubmed, doi:10.1002/ajmg.a.35304.
El-Chammas KI, Venkatasubramani N, Veith R, Sekhri N, Rhead W, Toriello HV, Goday PS. Pancreatic insufficiency in Toriello-Carey syndrome: report of a second patient. Am J Med Genet A. 2012 May;158A(5):1208–1211.
Published In
Am J Med Genet A
DOI
EISSN
1552-4833
Publication Date
May 2012
Volume
158A
Issue
5
Start / End Page
1208 / 1211
Location
United States
Related Subject Headings
- Syndrome
- Male
- Humans
- Heart Defects, Congenital
- Exocrine Pancreatic Insufficiency
- Developmental Disabilities
- Child
- Abnormalities, Multiple
- 3202 Clinical sciences
- 3105 Genetics