title: Congenital hypoplastic anemia: another example of autosomal dominant transmission.
abstract: Congenital hypoplastic anemia (CHA) or Blackfan-Diamond anemia (BDA) is a rare congenital abnormality of erythropoiesis characterized by normochromic, macrocytic anemia presenting in infancy or early childhood. Associated phenotypic abnormalities such as triphalangeal thumbs and cleft lip and/or palate are found in 70% of cases. Although most cases are sporadic, several reports suggest either autosomal dominant or autosomal recessive inheritance. We report on a 3 generation family with autosomal dominant inheritance of CHA.
authors.affiliation: Department of Pediatrics, University Hospital, Leiden, The Netherlands.
authors.forename: V
authors.initials: V
authors.lastname: Gojic
authors.forename: E T
authors.initials: ET
authors.lastname: van't Veer-Korthof
authors.forename: L J
authors.initials: LJ
authors.lastname: Bosch
authors.forename: W H
authors.initials: WH
authors.lastname: Puyn
authors.forename: A
authors.initials: A
authors.lastname: van Haeringen
mesh_terms: D000328:Adult; D005199:Fanconi Anemia / Q000235:genetics*; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree