title: De Barsy syndrome: a review of the phenotype.
abstract: De Barsy syndrome is a rare, autosomal recessive syndrome characterised by a progeria-like appearance with distinctive facial features and cutis laxa. Ophthalmological, orthopaedic and neurological abnormalities are also typically present. The syndrome was first described by de Barsy et al. in 1967 and since that time approximately 27 further cases have been reported worldwide. We present a case that demonstrates the typical clinical and histological features of de Barsy syndrome. A female infant, the second child of first-cousin parents from a multiply consanguineous family of Pakistani origin, presented at birth with growth retardation, cutis laxa and a progeria-like appearance. She had thin, overlapping fingers and adducted thumbs, blue sclerae, cloudy corneas and myopia. She has failed to thrive and has marked developmental delay and abnormal athetoid movements. During the first year of life she developed pectus excavatum and her facial appearance became more aged. To our knowledge there are no previous reports of de Barsy syndrome in individuals of Pakistani origin.
authors.affiliation: Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Gladstone Road, Exeter Departments of Clinical Genetics Pathology, Sheffield Children's NHS Foundation Trust, Western Bank Electron Microscopy Unit, Department of Histopathology, Northern General Hospital, Sheffield, UK.
authors.forename: Emma C
authors.initials: EC
authors.lastname: Kivuva
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Parker
authors.forename: Marta C
authors.initials: MC
authors.lastname: Cohen
authors.forename: Bart E
authors.initials: BE
authors.lastname: Wagner
authors.forename: Glenda
authors.initials: G
authors.lastname: Sobey
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000473:pathology*; D044466:Asian People; D003483:Cutis Laxa / Q000473:pathology*; D005124:Eye Abnormalities / Q000473:pathology*; D019066:Facies; D005183:Failure to Thrive / Q000473:pathology; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007223:Infant; D008297:Male; D011371:Progeria / Q000473:pathology*; D012867:Skin / Q000473:pathology; D013577:Syndrome