A new autosomal recessive syndrome. Early onset of pancytopenia, distinct facial features, growth retardation and developmental delay

Authors

• Fatma S. Al-Batniji, Department of Pediatrics, Armed Forces Hospital, PO Box 7897, Riyadh 11159, Kingdom of Saudi Arabia. Tel. +966 (1) 4777714 Ext. 5452. Fax. +966 (1) 4762121.
• Madeha A. Mahmoud, Department of Pediatrics, Armed Forces Hospital, Riyadh, Kingdom of Saudi Arabia.
• Rizgullah H. Al-Asiri, Department of Pediatrics, Armed Forces Hospital, Riyadh, Kingdom of Saudi Arabia.
• Abdulrahman F. Al-Swaid, Department of Pediatrics, Armed Forces Hospital, Riyadh, Kingdom of Saudi Arabia.
• Abdulrahman M. Al-Marshedy, Department of Pediatrics, Armed Forces Hospital, Riyadh, Kingdom of Saudi Arabia.

Abstract

The association of dysmorphic features and failure of one or more bone marrow cell lines is well known. Examples are Fanconi9s 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.

Article Type

Case Report

First Page

1122

Last Page

1126

Recommended Citation

Al-Batniji, Fatma S.; Mahmoud, Madeha A.; Al-Asiri, Rizgullah H.; Al-Swaid, Abdulrahman F.; and Al-Marshedy, Abdulrahman M. (2001) "A new autosomal recessive syndrome. Early onset of pancytopenia, distinct facial features, growth retardation and developmental delay," Saudi Medical Journal: Vol. 22: Iss. 12, Article 14.
DOI: https://doi.org/10.15537/1658-3175.1570