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.