title: Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension with pigeon chest deformity.
abstract: Congenital dyserythropoietic anemia (CDA) type-1 is a rare genetic disorder of ineffective erythropoiesis, which manifests in macrocytic anemia. We report a CDA1 patient who as a newborn presented with macrocytic anemia and persistent pulmonary hypertension of the newborn (PPHN) requiring mechanical ventilation. Post-infancy, the patient developed acral dysmorphism and pectus excavatum the latter rarely found in CDA1. Patient is a compound heterozygote for a known maternal-derived missense-mutation (c.1796A > G/p.Asn589Ser) and a novel paternal-derived deletion-mutation (c.1104_1106del/Phe365del) in CDAN1. This report highlights the importance of recognizing PPHN as a presenting symptom of CDA1 and expands the repertoire of the accompanying mutations and axial skeletal malformations.
authors.affiliation: Pediatric Hematology Oncology, University of Iowa Children's Hospital, Iowa City, Iowa.
authors.forename: Ayman A
authors.initials: AA
authors.lastname: El-Sheikh
authors.forename: Hasan
authors.initials: H
authors.lastname: Hashem
authors.forename: Carol
authors.initials: C
authors.lastname: Holman
authors.forename: Yatin M
authors.initials: YM
authors.lastname: Vyas
mesh_terms: D019943:Amino Acid Substitution; D000742:Anemia, Dyserythropoietic, Congenital / Q000150:complications / Q000235:genetics / Q000473:pathology; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D006976:Hypertension, Pulmonary / Q000150:complications / Q000235:genetics / Q000473:pathology; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D009687:Nuclear Proteins; D013909:Thorax / Q000002:abnormalities*
chemical_list: C470477:CDAN1 protein, human; D006023:Glycoproteins; D009687:Nuclear Proteins
keywords: CDA type I; PPHN; skeletal abnormalities