title: Wolf-Hirschhorn syndrome. Review of the literature and three case studies.
abstract: Wolf-Hirschhorn syndrome is a rare chromosomal abnormality caused by loss of material from the distal aspect of the short arm of chromosome 4. Characteristics include marked prenatal and postnatal growth retardation with psychomotor delay, profound mental deficiency, distinctive facies, and midline defects. Features that may affect the lower limb include lordosis, scoliosis, hypotonia, talipes equinovarus, and lesser-toe anomalies. This article reviews the literature on this rare syndrome and presents three case studies.
authors.affiliation: Fife Healthcare NHS Trust, Dunfermline, Scotland.
authors.forename: P
authors.initials: P
authors.lastname: Thomson
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D002648:Child; D002869:Chromosome Aberrations / Q000503:physiopathology; D025063:Chromosome Disorders; D002894:Chromosomes, Human, Pair 4; D003025:Clubfoot / Q000235:genetics / Q000503:physiopathology; D002658:Developmental Disabilities / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D008124:Locomotion; D008297:Male; D013577:Syndrome