PT  - JOURNAL ARTICLE
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
TI  - A new autosomal recessive syndrome. Early onset of pancytopenia, distinct facial features, growth retardation and developmental delay
DP  - 2001 Dec 01
TA  - Saudi Medical Journal
PG  - 1122--1126
VI  - 22
IP  - 12
4099  - http://smj.org.sa/content/22/12/1122.short
4100  - http://smj.org.sa/content/22/12/1122.full
SO  - Saudi Med J2001 Dec 01; 22
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.