A new autosomal recessive syndrome. Early onset of pancytopenia, distinct facial features, growth retardation and developmental delay
Author: Al Batniji FS, Mahmoud MA, Van Dijken PJ, Al Asiri RH, Al Swaid AF, Al Marshedy AM
Source:
Saudi medical journal, 22(12), 1122-1126.
The association of dysmorphic features and failure of one or more bone marrow
cell lines is well known. Examples are Fanconi's anemia and Diamond-Blackfan
anemiThis report describes 3 similarly affected children from consanguineous
parents, all showing low birth weight, severe growth retardation, distinct facial
features, microcephaly, mental retardation and onset of severe pancytopenia in
infancy without increased chromosomal breakage. We conclude that these cases
represent a new familial autosomal recessive bone marrow failure syndrome.