منابع مشابه
VACTERL-H Association and Fanconi Anemia.
Patients with Fanconi anemia (FA) often have birth defects that suggest the diagnosis of VATER association. A review of 2,245 cases of FA reported in the literature from 1927 to 2012 identified 108 cases with at least 3 of the defining features of VATER association; only 29 had been so noted by the authors. The FA VATER signature was the significantly higher frequency of renal and limb (radial ...
متن کاملVACTERL Association
VACTERL association [3] is a term applied to a specific group of abnormalities involving structures derived from the mesoderm [4]. Although the defects of this disorder are clearly linked, VACTERL is called an association rather than a syndrome because the exact genetic cause is unknown. ?VACTERL? is an acronym, each letter standing for one of the defects associated with the condition: V for ve...
متن کاملFanconi anemia
What is it? Fanconi anemia (FA) is an autosomal recessive human disease characterized by congenital malformations, bone marrow failure and cancer. FA patients often develop leukemia and/or squamous cell carcinomas of the head and neck or gynecologic system. FA cells are hypersensitive to DNA crosslinking agents, such as mitomycin C (MMC) or diepoxybutane (DEB), and the syndrome is believed to r...
متن کاملVACTERL Association
VACTERL association [3] is a term applied to a specific group of abnormalities involving structures derived from the mesoderm [4]. Although the defects of this disorder are clearly linked, VACTERL is called an association rather than a syndrome because the exact genetic cause is unknown. ?VACTERL? is an acronym, each letter standing for one of the defects associated with the condition: V for ve...
متن کاملFrequency of Hypothyroidism in Fanconi Anemia
Background: Fanconi anemia (FA) is a rare, autosomal recessive (AR) and multifactorial disorder. A high prevalence of FA observed in Iran is perhaps due to the high rate of consanguineous marriages. This study investigates the extent of short stature in patients with FA, the frequency of hypothyroidism in FA and the correlation between height and hypothyroidism. Methods: Eighteen patients with ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Molecular Syndromology
سال: 2012
ISSN: 1661-8777,1661-8769
DOI: 10.1159/000346035