title: [Dubowitz syndrome. A diagnosis not to be missed].
abstract: Dubowitz syndrome is a rare hereditary disorder whose main features are intra-uterine and post-natal growth retardation, characteristic facies, microcephaly, mental retardation and poor feeding. Because of the eczema which was present in half of the cases after 4 years of age, it cannot be mistaken for the more frequent fetal alcohol syndrome. We report 5 cases, among whom two sibs, confirming the recessive autosomal mode of inheritance and the necessity for genetic counseling.
authors.affiliation: Centre de Génétique, CHU Nord, Amiens.
authors.forename: M
authors.initials: M
authors.lastname: Mathieu
authors.forename: P
authors.initials: P
authors.lastname: Berquin
authors.forename: S
authors.initials: S
authors.lastname: Epelbaum
authors.forename: C
authors.initials: C
authors.lastname: Lenaerts
authors.forename: C
authors.initials: C
authors.lastname: Piussan
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D004392:Dwarfism / Q000150:complications / Q000235:genetics; D004485:Eczema; D005145:Face / Q000002:abnormalities*; D005260:Female; D005317:Fetal Growth Retardation; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics; D013577:Syndrome
vernacular_title: Le syndrome de Dubowitz. Un diagnostic à ne pas méconnaître.