Open AccessTricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia
Author(s) -
Badr Alsaleem,
Mohammed Hasosah,
Amna Basheer M. Ahmed,
Maher M. Al Hatlani,
Aziz Alanazi,
Abulrahman A Alhussaini,
Ali Asery,
Khalid Alghamdi,
Muhanad Alruwaithi,
Musa Khormi,
Ahmed Al Sarkhy,
Ali Saleh Alshamrani
Publication year - 2022
Publication title -
the saudi journal of gastroenterology/saudi journal of gastroenterology
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.608
H-Index - 32
eISSN - 1998-4049
pISSN - 1319-3767
DOI - 10.4103/sjg.sjg_200_21
Subject(s) - medicine , diarrhea , pediatrics , hyperpigmentation , exome sequencing , parenteral nutrition , skin hyperpigmentation , malnutrition , retrospective cohort study , short stature , psychomotor retardation , dermatology , phenotype , pathology , genetics , alternative medicine , biology , gene
Trichohepatoenteric syndrome (THES) is a very rare disorder that is characterized by intractable congenital diarrhea, woolly hair, intrauterine growth restriction, facial dysmorphism, and short stature. Our knowledge of THES is limited due to the small number of reported cases.