RT Journal Article
SR Electronic
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
FD Prince Sultan Military Medical City
SP 1122
OP 1126
VO 22
IS 12
A1 Fatma S. Al-Batniji
A1 Madeha A. Mahmoud
A1 Pieter J. Van Dijken
A1 Rizgullah H. Al-Asiri
A1 Abdulrahman F. Al-Swaid
A1 Abdulrahman M. Al-Marshedy
YR 2001
UL http://smj.org.sa/content/22/12/1122.abstract
AB 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.