TY - JOUR T1 - A new autosomal recessive syndrome. Early onset of pancytopenia, distinct facial features, growth retardation and developmental delay JF - Saudi Medical Journal JO - Saudi Med J SP - 1122 LP - 1126 VL - 22 IS - 12 AU - Fatma S. Al-Batniji AU - Madeha A. Mahmoud AU - Pieter J. Van Dijken AU - Rizgullah H. Al-Asiri AU - Abdulrahman F. Al-Swaid AU - Abdulrahman M. Al-Marshedy Y1 - 2001/12/01 UR - http://smj.org.sa/content/22/12/1122.abstract N2 - 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 anemia. This 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. ER -