Journal article
Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension with pigeon chest deformity
Pediatric blood & cancer, Vol.61(8), pp.1460-1462
08/2014
DOI: 10.1002/pbc.24945
PMID: 24420417
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. Pediatr Blood Cancer 2014; 61:1460–1462. © 2014 Wiley Periodicals, Inc.
Details
- Title: Subtitle
- Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension with pigeon chest deformity
- Creators
- Ayman A El‐Sheikh - University of Iowa Children's HospitalHasan Hashem - Case Western UniversityCarol Holman - University of Iowa Hospital and ClinicsYatin M Vyas - University of Iowa Children's Hospital
- Resource Type
- Journal article
- Publication Details
- Pediatric blood & cancer, Vol.61(8), pp.1460-1462
- DOI
- 10.1002/pbc.24945
- PMID
- 24420417
- ISSN
- 1545-5009
- eISSN
- 1545-5017
- Number of pages
- 3
- Language
- English
- Date published
- 08/2014
- Academic Unit
- Stead Family Department of Pediatrics; Pathology
- Record Identifier
- 9984093316702771
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