title: Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?
abstract: A male infant was found to have bilateral exudative retinopathy at 6 months of age. A month later severe aplastic anaemia was diagnosed, eventually leading to the infant's death. Additional features of this seemingly new syndrome were intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation, ataxia because of cerebellar hypoplasia, cerebral calcifications, extensor hypertonia, and progressive psychomotor retardation.
authors.affiliation: Department of Paediatrics, Faculty of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates.
authors.forename: T
authors.initials: T
authors.lastname: Revesz
authors.forename: S
authors.initials: S
authors.lastname: Fletcher
authors.forename: L I
authors.initials: LI
authors.lastname: al-Gazali
authors.forename: P
authors.initials: P
authors.lastname: DeBuse
mesh_terms: D000741:Anemia, Aplastic / Q000235:genetics*; D001927:Brain Diseases / Q000209:etiology; D002114:Calcinosis / Q000209:etiology; D002531:Cerebellum / Q000002:abnormalities*; D005122:Exudates and Transudates; D005317:Fetal Growth Retardation; D006801:Humans; D007223:Infant; D008297:Male; D012163:Retinal Detachment / Q000235:genetics*; D013577:Syndrome; D013921:Thrombocytopenia / Q000235:genetics*