title: A new autosomal recessive syndrome. Early onset of pancytopenia, distinct facial features, growth retardation and developmental delay.
abstract: 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.
authors.affiliation: Department of Pediatrics, Armed Forces Hospital, PO Box 7897, Riyadh 11159, Kingdom of Saudi Arabia.
authors.forename: F S
authors.initials: FS
authors.lastname: Al-Batniji
authors.forename: M A
authors.initials: MA
authors.lastname: Mahmoud
authors.forename: P J
authors.initials: PJ
authors.lastname: Van Dijken
authors.forename: R H
authors.initials: RH
authors.lastname: Al-Asiri
authors.forename: A F
authors.initials: AF
authors.lastname: Al-Swaid
authors.forename: A M
authors.initials: AM
authors.lastname: Al-Marshedy
mesh_terms: D017668:Age of Onset; D000741:Anemia, Aplastic; D001724:Birth Weight; D001855:Bone Marrow Diseases / Q000235:genetics*; D003241:Consanguinity; D002658:Developmental Disabilities; D019066:Facies; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D010198:Pancytopenia / Q000235:genetics*; D011247:Pregnancy; D013577:Syndrome